Incidental Mutation 'R2509:Shank1'
| ID |
251747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shank1
|
| Ensembl Gene |
ENSMUSG00000038738 |
| Gene Name |
SH3 and multiple ankyrin repeat domains 1 |
| Synonyms |
|
| MMRRC Submission |
040415-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R2509 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43959677-44009996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44001547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1089
(A1089T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107934]
[ENSMUST00000107935]
[ENSMUST00000107938]
|
| AlphaFold |
D3YZU1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000107934
AA Change: A1080T
|
| SMART Domains |
Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738
AA Change: A1080T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
ANK
|
212 |
242 |
5.75e-1 |
SMART |
|
ANK
|
246 |
275 |
3.6e-2 |
SMART |
|
ANK
|
279 |
309 |
3.44e1 |
SMART |
|
ANK
|
313 |
342 |
1.97e1 |
SMART |
|
ANK
|
346 |
375 |
3.97e-4 |
SMART |
|
ANK
|
379 |
407 |
5.69e2 |
SMART |
|
low complexity region
|
452 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
548 |
N/A |
INTRINSIC |
|
SH3
|
557 |
612 |
3.73e-16 |
SMART |
|
PDZ
|
663 |
752 |
2.12e-13 |
SMART |
|
Blast:PDZ
|
795 |
830 |
5e-11 |
BLAST |
|
low complexity region
|
920 |
941 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1023 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1123 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1220 |
N/A |
INTRINSIC |
|
low complexity region
|
1256 |
1275 |
N/A |
INTRINSIC |
|
low complexity region
|
1298 |
1323 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1404 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1466 |
N/A |
INTRINSIC |
|
low complexity region
|
1512 |
1532 |
N/A |
INTRINSIC |
|
low complexity region
|
1539 |
1555 |
N/A |
INTRINSIC |
|
low complexity region
|
1557 |
1570 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1614 |
N/A |
INTRINSIC |
|
low complexity region
|
1633 |
1667 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1720 |
N/A |
INTRINSIC |
|
low complexity region
|
1735 |
1746 |
N/A |
INTRINSIC |
|
low complexity region
|
1776 |
1787 |
N/A |
INTRINSIC |
|
low complexity region
|
1806 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1852 |
N/A |
INTRINSIC |
|
low complexity region
|
1893 |
1907 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1936 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1976 |
N/A |
INTRINSIC |
|
low complexity region
|
1988 |
2004 |
N/A |
INTRINSIC |
|
low complexity region
|
2009 |
2029 |
N/A |
INTRINSIC |
|
low complexity region
|
2059 |
2083 |
N/A |
INTRINSIC |
|
SAM
|
2092 |
2158 |
1.35e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107935
AA Change: A1081T
|
| SMART Domains |
Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738
AA Change: A1081T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
ANK
|
212 |
242 |
5.75e-1 |
SMART |
|
ANK
|
246 |
275 |
3.6e-2 |
SMART |
|
ANK
|
279 |
309 |
3.44e1 |
SMART |
|
ANK
|
313 |
342 |
1.97e1 |
SMART |
|
ANK
|
346 |
375 |
3.97e-4 |
SMART |
|
ANK
|
379 |
407 |
5.69e2 |
SMART |
|
low complexity region
|
452 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
548 |
N/A |
INTRINSIC |
|
SH3
|
557 |
612 |
3.73e-16 |
SMART |
|
low complexity region
|
648 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
672 |
761 |
2.12e-13 |
SMART |
|
Blast:PDZ
|
796 |
831 |
1e-10 |
BLAST |
|
low complexity region
|
921 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1052 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1139 |
N/A |
INTRINSIC |
|
low complexity region
|
1163 |
1176 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1221 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1405 |
N/A |
INTRINSIC |
|
low complexity region
|
1451 |
1467 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1533 |
N/A |
INTRINSIC |
|
low complexity region
|
1540 |
1556 |
N/A |
INTRINSIC |
|
low complexity region
|
1558 |
1571 |
N/A |
INTRINSIC |
|
low complexity region
|
1581 |
1615 |
N/A |
INTRINSIC |
|
low complexity region
|
1634 |
1668 |
N/A |
INTRINSIC |
|
low complexity region
|
1686 |
1721 |
N/A |
INTRINSIC |
|
low complexity region
|
1736 |
1747 |
N/A |
INTRINSIC |
|
low complexity region
|
1777 |
1788 |
N/A |
INTRINSIC |
|
low complexity region
|
1807 |
1824 |
N/A |
INTRINSIC |
|
low complexity region
|
1835 |
1853 |
N/A |
INTRINSIC |
|
low complexity region
|
1894 |
1908 |
N/A |
INTRINSIC |
|
low complexity region
|
1926 |
1937 |
N/A |
INTRINSIC |
|
low complexity region
|
1943 |
1977 |
N/A |
INTRINSIC |
|
low complexity region
|
1989 |
2005 |
N/A |
INTRINSIC |
|
low complexity region
|
2010 |
2030 |
N/A |
INTRINSIC |
|
low complexity region
|
2060 |
2084 |
N/A |
INTRINSIC |
|
SAM
|
2093 |
2159 |
1.35e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107938
AA Change: A1089T
|
| SMART Domains |
Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738
AA Change: A1089T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
Pfam:FERM_f0
|
73 |
156 |
6.6e-17 |
PFAM |
|
ANK
|
212 |
242 |
5.75e-1 |
SMART |
|
ANK
|
246 |
275 |
3.6e-2 |
SMART |
|
ANK
|
279 |
309 |
3.44e1 |
SMART |
|
ANK
|
313 |
342 |
1.97e1 |
SMART |
|
ANK
|
346 |
375 |
3.97e-4 |
SMART |
|
ANK
|
379 |
407 |
5.69e2 |
SMART |
|
low complexity region
|
452 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
548 |
N/A |
INTRINSIC |
|
SH3
|
557 |
612 |
3.73e-16 |
SMART |
|
low complexity region
|
648 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
672 |
761 |
2.12e-13 |
SMART |
|
Blast:PDZ
|
804 |
839 |
5e-11 |
BLAST |
|
low complexity region
|
929 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
964 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1089 |
N/A |
INTRINSIC |
|
low complexity region
|
1132 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1171 |
1184 |
N/A |
INTRINSIC |
|
low complexity region
|
1188 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1284 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1378 |
1413 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1475 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1541 |
N/A |
INTRINSIC |
|
low complexity region
|
1548 |
1564 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
low complexity region
|
1589 |
1623 |
N/A |
INTRINSIC |
|
low complexity region
|
1642 |
1676 |
N/A |
INTRINSIC |
|
low complexity region
|
1694 |
1729 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1755 |
N/A |
INTRINSIC |
|
low complexity region
|
1785 |
1796 |
N/A |
INTRINSIC |
|
low complexity region
|
1815 |
1832 |
N/A |
INTRINSIC |
|
low complexity region
|
1843 |
1861 |
N/A |
INTRINSIC |
|
low complexity region
|
1902 |
1916 |
N/A |
INTRINSIC |
|
low complexity region
|
1934 |
1945 |
N/A |
INTRINSIC |
|
low complexity region
|
1951 |
1985 |
N/A |
INTRINSIC |
|
low complexity region
|
1997 |
2013 |
N/A |
INTRINSIC |
|
low complexity region
|
2018 |
2038 |
N/A |
INTRINSIC |
|
low complexity region
|
2068 |
2092 |
N/A |
INTRINSIC |
|
SAM
|
2101 |
2167 |
1.35e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154776
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (105/109) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,200,102 (GRCm39) |
I497V |
probably benign |
Het |
| 4930571K23Rik |
C |
A |
7: 124,968,311 (GRCm39) |
|
noncoding transcript |
Het |
| Abca17 |
G |
T |
17: 24,508,587 (GRCm39) |
|
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,140,791 (GRCm39) |
R196Q |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,612,516 (GRCm39) |
I379V |
possibly damaging |
Het |
| Acot4 |
G |
A |
12: 84,088,647 (GRCm39) |
G165D |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,250,881 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
T |
C |
1: 179,598,258 (GRCm39) |
S945G |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,248,583 (GRCm39) |
R263C |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,615,846 (GRCm39) |
|
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,101,633 (GRCm39) |
K103R |
probably damaging |
Het |
| Cabp1 |
A |
T |
5: 115,310,843 (GRCm39) |
N211K |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,711,943 (GRCm39) |
D261V |
probably damaging |
Het |
| Car11 |
G |
A |
7: 45,350,783 (GRCm39) |
G93E |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,664,473 (GRCm39) |
I821T |
probably benign |
Het |
| Cast |
T |
C |
13: 74,885,735 (GRCm39) |
I277V |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,769,694 (GRCm39) |
K1165R |
probably null |
Het |
| Cenpk |
A |
G |
13: 104,370,675 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,394,169 (GRCm39) |
K353E |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,066 (GRCm39) |
Q1674R |
probably benign |
Het |
| Cnnm1 |
T |
A |
19: 43,430,325 (GRCm39) |
V481D |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,664,381 (GRCm39) |
M506V |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c50 |
G |
A |
19: 40,079,013 (GRCm39) |
V119I |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,234,447 (GRCm39) |
T1460A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,994,019 (GRCm39) |
D3379N |
probably benign |
Het |
| Dnajc4 |
C |
T |
19: 6,968,111 (GRCm39) |
R55H |
probably damaging |
Het |
| Ebf4 |
C |
T |
2: 130,148,482 (GRCm39) |
R98* |
probably null |
Het |
| Epha4 |
G |
A |
1: 77,488,339 (GRCm39) |
A47V |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,320,251 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,733,399 (GRCm39) |
F75S |
probably damaging |
Het |
| Fam168a |
G |
T |
7: 100,483,391 (GRCm39) |
|
probably null |
Het |
| Fat3 |
G |
A |
9: 15,836,310 (GRCm39) |
R4065W |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
| Gm5900 |
T |
A |
7: 104,599,571 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi1 |
A |
G |
7: 33,905,348 (GRCm39) |
S359P |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,768,149 (GRCm39) |
R22G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,774,923 (GRCm39) |
V158A |
probably damaging |
Het |
| Grin2c |
T |
A |
11: 115,141,894 (GRCm39) |
K842* |
probably null |
Het |
| Gsta5 |
T |
A |
9: 78,202,089 (GRCm39) |
M1K |
probably null |
Het |
| Hnf4a |
T |
A |
2: 163,408,161 (GRCm39) |
L329Q |
probably damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,267 (GRCm39) |
L92P |
probably damaging |
Het |
| Ido1 |
T |
A |
8: 25,074,501 (GRCm39) |
R290* |
probably null |
Het |
| Ifnlr1 |
G |
T |
4: 135,432,559 (GRCm39) |
D332Y |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,420,312 (GRCm39) |
N1108S |
probably benign |
Het |
| Igkv3-9 |
T |
A |
6: 70,565,728 (GRCm39) |
M109K |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,239,287 (GRCm39) |
D298G |
probably damaging |
Het |
| Iqck |
T |
G |
7: 118,475,505 (GRCm39) |
M98R |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,618,803 (GRCm39) |
V60A |
probably damaging |
Het |
| Krtap1-3 |
C |
T |
11: 99,481,653 (GRCm39) |
E165K |
unknown |
Het |
| Lair1 |
A |
G |
7: 4,013,782 (GRCm39) |
L155P |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,531,699 (GRCm39) |
S657P |
probably damaging |
Het |
| Mast4 |
G |
T |
13: 102,990,350 (GRCm39) |
S57Y |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,011,118 (GRCm39) |
H360R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
| Myh1 |
A |
G |
11: 67,096,423 (GRCm39) |
I301V |
probably benign |
Het |
| Nck2 |
T |
A |
1: 43,593,393 (GRCm39) |
V200E |
probably damaging |
Het |
| Odad4 |
T |
G |
11: 100,444,361 (GRCm39) |
L222R |
probably damaging |
Het |
| Or2y1b |
T |
G |
11: 49,209,048 (GRCm39) |
L225R |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,030 (GRCm39) |
Y248C |
possibly damaging |
Het |
| Or4c109 |
T |
G |
2: 88,817,775 (GRCm39) |
Y257S |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,837 (GRCm39) |
L30F |
probably benign |
Het |
| Or4k38 |
C |
T |
2: 111,166,076 (GRCm39) |
V116I |
probably damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,894 (GRCm39) |
H26Y |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,525 (GRCm39) |
L114P |
probably damaging |
Het |
| Otoa |
C |
T |
7: 120,759,695 (GRCm39) |
T1099I |
probably benign |
Het |
| Pask |
T |
A |
1: 93,258,485 (GRCm39) |
I288F |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,613,746 (GRCm39) |
W564R |
probably damaging |
Het |
| Pip4p1 |
A |
T |
14: 51,167,115 (GRCm39) |
Y129* |
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,274,389 (GRCm39) |
E240G |
probably damaging |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,383 (GRCm39) |
Y436C |
possibly damaging |
Het |
| Pramel27 |
G |
A |
4: 143,578,561 (GRCm39) |
V274I |
probably benign |
Het |
| Prkca |
T |
C |
11: 107,870,032 (GRCm39) |
Y37C |
probably damaging |
Het |
| Rad18 |
T |
G |
6: 112,652,883 (GRCm39) |
H238P |
possibly damaging |
Het |
| Rap1b |
T |
A |
10: 117,654,444 (GRCm39) |
Q1L |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,159,798 (GRCm39) |
Y178C |
probably benign |
Het |
| Rpl3l |
A |
T |
17: 24,951,360 (GRCm39) |
D87V |
possibly damaging |
Het |
| Scrn2 |
T |
C |
11: 96,923,992 (GRCm39) |
V292A |
possibly damaging |
Het |
| Sdad1 |
A |
G |
5: 92,453,684 (GRCm39) |
Y35H |
probably benign |
Het |
| Sez6l2 |
T |
C |
7: 126,552,944 (GRCm39) |
S177P |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,706 (GRCm39) |
P612S |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,042,468 (GRCm39) |
C817Y |
probably damaging |
Het |
| Spata22 |
C |
T |
11: 73,236,593 (GRCm39) |
P300S |
probably damaging |
Het |
| Sstr2 |
A |
T |
11: 113,515,749 (GRCm39) |
I223F |
probably damaging |
Het |
| Stom |
C |
T |
2: 35,210,354 (GRCm39) |
A217T |
probably damaging |
Het |
| Stpg1 |
T |
C |
4: 135,263,960 (GRCm39) |
V341A |
probably benign |
Het |
| Tagap |
A |
G |
17: 8,147,586 (GRCm39) |
T99A |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,387,162 (GRCm39) |
N207S |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,105 (GRCm39) |
V265A |
probably benign |
Het |
| Thyn1 |
A |
G |
9: 26,911,316 (GRCm39) |
R3G |
possibly damaging |
Het |
| Tia1 |
T |
A |
6: 86,401,312 (GRCm39) |
|
probably null |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,683,511 (GRCm39) |
T689A |
possibly damaging |
Het |
| Tmem11 |
A |
T |
11: 60,755,807 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
C |
3: 28,722,064 (GRCm39) |
V1310A |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,047,357 (GRCm39) |
S380P |
possibly damaging |
Het |
| Trim8 |
C |
T |
19: 46,503,734 (GRCm39) |
P429S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,687,756 (GRCm39) |
|
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,678,340 (GRCm39) |
Y793C |
probably benign |
Het |
| Vill |
G |
A |
9: 118,899,370 (GRCm39) |
V337M |
possibly damaging |
Het |
| Vps53 |
C |
A |
11: 75,957,661 (GRCm39) |
V364F |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,454,848 (GRCm39) |
I1396N |
unknown |
Het |
| Zfa-ps |
A |
C |
10: 52,420,339 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp426 |
T |
C |
9: 20,381,977 (GRCm39) |
T337A |
possibly damaging |
Het |
| Zfp536 |
T |
C |
7: 37,267,403 (GRCm39) |
E671G |
possibly damaging |
Het |
| Zfp985 |
A |
G |
4: 147,667,443 (GRCm39) |
T104A |
possibly damaging |
Het |
|
| Other mutations in Shank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Shank1
|
APN |
7 |
44,003,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01293:Shank1
|
APN |
7 |
44,003,660 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01319:Shank1
|
APN |
7 |
44,002,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01347:Shank1
|
APN |
7 |
43,991,544 (GRCm39) |
missense |
unknown |
|
|
IGL01621:Shank1
|
APN |
7 |
44,001,023 (GRCm39) |
missense |
unknown |
|
|
IGL01621:Shank1
|
APN |
7 |
43,991,889 (GRCm39) |
missense |
unknown |
|
|
IGL01964:Shank1
|
APN |
7 |
43,975,102 (GRCm39) |
missense |
unknown |
|
|
IGL02309:Shank1
|
APN |
7 |
43,962,266 (GRCm39) |
missense |
unknown |
|
|
IGL02325:Shank1
|
APN |
7 |
43,976,504 (GRCm39) |
nonsense |
probably null |
|
|
IGL02387:Shank1
|
APN |
7 |
44,006,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02958:Shank1
|
APN |
7 |
44,003,897 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
|
R0098:Shank1
|
UTSW |
7 |
43,962,709 (GRCm39) |
missense |
unknown |
|
|
R0197:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
|
R0326:Shank1
|
UTSW |
7 |
43,968,594 (GRCm39) |
missense |
unknown |
|
|
R0365:Shank1
|
UTSW |
7 |
44,003,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0883:Shank1
|
UTSW |
7 |
44,001,718 (GRCm39) |
missense |
unknown |
|
|
R1033:Shank1
|
UTSW |
7 |
44,006,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1390:Shank1
|
UTSW |
7 |
44,006,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Shank1
|
UTSW |
7 |
43,965,499 (GRCm39) |
missense |
unknown |
|
|
R1594:Shank1
|
UTSW |
7 |
43,976,647 (GRCm39) |
nonsense |
probably null |
|
|
R1713:Shank1
|
UTSW |
7 |
43,969,161 (GRCm39) |
missense |
unknown |
|
|
R1783:Shank1
|
UTSW |
7 |
44,002,161 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1869:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
|
R1870:Shank1
|
UTSW |
7 |
43,991,539 (GRCm39) |
nonsense |
probably null |
|
|
R1959:Shank1
|
UTSW |
7 |
43,974,801 (GRCm39) |
missense |
unknown |
|
|
R1962:Shank1
|
UTSW |
7 |
43,993,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2406:Shank1
|
UTSW |
7 |
44,006,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2509:Shank1
|
UTSW |
7 |
44,001,148 (GRCm39) |
missense |
unknown |
|
|
R3877:Shank1
|
UTSW |
7 |
43,994,416 (GRCm39) |
missense |
unknown |
|
|
R4041:Shank1
|
UTSW |
7 |
43,991,586 (GRCm39) |
missense |
unknown |
|
|
R4249:Shank1
|
UTSW |
7 |
43,969,160 (GRCm39) |
missense |
unknown |
|
|
R4303:Shank1
|
UTSW |
7 |
43,991,898 (GRCm39) |
missense |
unknown |
|
|
R4431:Shank1
|
UTSW |
7 |
43,969,076 (GRCm39) |
nonsense |
probably null |
|
|
R4525:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4527:Shank1
|
UTSW |
7 |
44,004,014 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4642:Shank1
|
UTSW |
7 |
43,962,565 (GRCm39) |
missense |
unknown |
|
|
R4722:Shank1
|
UTSW |
7 |
43,962,638 (GRCm39) |
nonsense |
probably null |
|
|
R4805:Shank1
|
UTSW |
7 |
43,993,135 (GRCm39) |
missense |
unknown |
|
|
R4874:Shank1
|
UTSW |
7 |
43,965,497 (GRCm39) |
missense |
unknown |
|
|
R4904:Shank1
|
UTSW |
7 |
43,983,464 (GRCm39) |
intron |
probably benign |
|
|
R4939:Shank1
|
UTSW |
7 |
43,975,586 (GRCm39) |
missense |
unknown |
|
|
R5394:Shank1
|
UTSW |
7 |
44,002,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5410:Shank1
|
UTSW |
7 |
44,001,246 (GRCm39) |
missense |
unknown |
|
|
R5556:Shank1
|
UTSW |
7 |
43,993,739 (GRCm39) |
intron |
probably benign |
|
|
R5620:Shank1
|
UTSW |
7 |
43,962,160 (GRCm39) |
missense |
unknown |
|
|
R5656:Shank1
|
UTSW |
7 |
44,002,310 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5688:Shank1
|
UTSW |
7 |
44,003,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5740:Shank1
|
UTSW |
7 |
44,003,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5801:Shank1
|
UTSW |
7 |
44,006,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6179:Shank1
|
UTSW |
7 |
44,006,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6186:Shank1
|
UTSW |
7 |
44,001,990 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6245:Shank1
|
UTSW |
7 |
44,001,677 (GRCm39) |
missense |
unknown |
|
|
R6500:Shank1
|
UTSW |
7 |
43,976,645 (GRCm39) |
missense |
unknown |
|
|
R6602:Shank1
|
UTSW |
7 |
44,001,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6655:Shank1
|
UTSW |
7 |
43,976,644 (GRCm39) |
missense |
unknown |
|
|
R6709:Shank1
|
UTSW |
7 |
44,003,600 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6734:Shank1
|
UTSW |
7 |
44,003,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6881:Shank1
|
UTSW |
7 |
44,001,217 (GRCm39) |
missense |
unknown |
|
|
R6902:Shank1
|
UTSW |
7 |
44,006,239 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6975:Shank1
|
UTSW |
7 |
43,962,530 (GRCm39) |
splice site |
probably null |
|
|
R6985:Shank1
|
UTSW |
7 |
43,994,337 (GRCm39) |
missense |
unknown |
|
|
R7072:Shank1
|
UTSW |
7 |
43,994,370 (GRCm39) |
missense |
unknown |
|
|
R7116:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
|
R7117:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
|
R7199:Shank1
|
UTSW |
7 |
44,002,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7249:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
|
R7252:Shank1
|
UTSW |
7 |
43,976,585 (GRCm39) |
missense |
unknown |
|
|
R7552:Shank1
|
UTSW |
7 |
44,002,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7653:Shank1
|
UTSW |
7 |
43,969,093 (GRCm39) |
missense |
unknown |
|
|
R7707:Shank1
|
UTSW |
7 |
43,993,725 (GRCm39) |
missense |
unknown |
|
|
R7801:Shank1
|
UTSW |
7 |
44,001,022 (GRCm39) |
missense |
unknown |
|
|
R7804:Shank1
|
UTSW |
7 |
43,962,308 (GRCm39) |
missense |
unknown |
|
|
R8122:Shank1
|
UTSW |
7 |
43,983,015 (GRCm39) |
missense |
unknown |
|
|
R8178:Shank1
|
UTSW |
7 |
43,962,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8339:Shank1
|
UTSW |
7 |
43,975,589 (GRCm39) |
missense |
unknown |
|
|
R8463:Shank1
|
UTSW |
7 |
44,003,605 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9005:Shank1
|
UTSW |
7 |
44,002,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9023:Shank1
|
UTSW |
7 |
43,968,531 (GRCm39) |
missense |
unknown |
|
|
R9225:Shank1
|
UTSW |
7 |
43,983,470 (GRCm39) |
missense |
unknown |
|
|
R9234:Shank1
|
UTSW |
7 |
43,962,579 (GRCm39) |
missense |
unknown |
|
|
R9369:Shank1
|
UTSW |
7 |
44,001,478 (GRCm39) |
missense |
unknown |
|
|
R9432:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9433:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9434:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9467:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9474:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9475:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9476:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9477:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9519:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9544:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9545:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9598:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9633:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9698:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9699:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9701:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9755:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9783:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9784:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9800:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9802:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
R9803:Shank1
|
UTSW |
7 |
43,962,342 (GRCm39) |
missense |
unknown |
|
|
X0019:Shank1
|
UTSW |
7 |
44,006,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Shank1
|
UTSW |
7 |
44,001,353 (GRCm39) |
missense |
unknown |
|
|
Z1088:Shank1
|
UTSW |
7 |
44,001,590 (GRCm39) |
missense |
unknown |
|
|
Z1177:Shank1
|
UTSW |
7 |
43,975,068 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCACAGTGGCGCCCTAC -3'
(R):5'- CTGCTACTGGTAGATGGGGC -3'
Sequencing Primer
(F):5'- ATCACCATGCGCATCCTC -3'
(R):5'- GATGGAATTTTTCTCCGACGGCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation