Incidental Mutation 'R5566:Itsn2'
| ID |
436852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn2
|
| Ensembl Gene |
ENSMUSG00000020640 |
| Gene Name |
intersectin 2 |
| Synonyms |
Sh3d1B, Eh domain, SH3 domain regulator of endocytosis 2, Ese2, Sh3p18 |
| MMRRC Submission |
043123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4592638-4713962 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4626554 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 50
(L50Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000218402]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062580
AA Change: L50Q
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: L50Q
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
15 |
109 |
8.44e-41 |
SMART |
|
EFh
|
58 |
86 |
7.18e-3 |
SMART |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
231 |
N/A |
INTRINSIC |
|
EH
|
238 |
333 |
4.06e-43 |
SMART |
|
EFh
|
282 |
310 |
6.16e-2 |
SMART |
|
coiled coil region
|
366 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
516 |
556 |
N/A |
INTRINSIC |
|
coiled coil region
|
580 |
715 |
N/A |
INTRINSIC |
|
SH3
|
721 |
778 |
2.65e-21 |
SMART |
|
low complexity region
|
791 |
811 |
N/A |
INTRINSIC |
|
SH3
|
855 |
909 |
8.83e-18 |
SMART |
|
SH3
|
945 |
999 |
9.1e-20 |
SMART |
|
SH3
|
1017 |
1077 |
1.55e-13 |
SMART |
|
SH3
|
1091 |
1146 |
7.22e-23 |
SMART |
|
RhoGEF
|
1174 |
1355 |
1.93e-56 |
SMART |
|
PH
|
1396 |
1507 |
1.16e-9 |
SMART |
|
C2
|
1531 |
1628 |
3.96e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218402
AA Change: L50Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: L50Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: L50Q
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
T |
C |
18: 12,180,692 (GRCm38) |
I26T |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,294,615 (GRCm38) |
Y2159* |
probably null |
Het |
| Abca3 |
A |
G |
17: 24,383,927 (GRCm38) |
T499A |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,935,967 (GRCm38) |
T322S |
probably damaging |
Het |
| Adamts4 |
T |
A |
1: 171,250,850 (GRCm38) |
M1K |
probably null |
Het |
| Adamtsl4 |
C |
T |
3: 95,685,455 (GRCm38) |
|
probably null |
Het |
| Adh4 |
A |
T |
3: 138,424,189 (GRCm38) |
I259F |
probably damaging |
Het |
| Aff3 |
G |
A |
1: 38,181,424 (GRCm38) |
S1135F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,285,648 (GRCm38) |
D280G |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,251,733 (GRCm38) |
E71G |
probably damaging |
Het |
| BC030867 |
T |
A |
11: 102,255,833 (GRCm38) |
S312T |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,152,700 (GRCm38) |
I91T |
possibly damaging |
Het |
| Ccr5 |
A |
G |
9: 124,124,660 (GRCm38) |
N100S |
probably benign |
Het |
| Cep57 |
G |
T |
9: 13,821,575 (GRCm38) |
R25S |
probably damaging |
Het |
| Chadl |
A |
G |
15: 81,695,878 (GRCm38) |
L52P |
probably damaging |
Het |
| Clec12b |
T |
C |
6: 129,385,475 (GRCm38) |
T6A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,618,250 (GRCm38) |
N43Y |
probably damaging |
Het |
| Col20a1 |
A |
T |
2: 180,986,523 (GRCm38) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,462,889 (GRCm38) |
|
probably null |
Het |
| Ctps |
A |
T |
4: 120,554,103 (GRCm38) |
|
probably null |
Het |
| Cyp39a1 |
T |
A |
17: 43,685,208 (GRCm38) |
W224R |
possibly damaging |
Het |
| Defb29 |
A |
T |
2: 152,538,928 (GRCm38) |
Y54N |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 131,106,273 (GRCm38) |
D1241V |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,274,366 (GRCm38) |
I2671K |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,516,569 (GRCm38) |
E158* |
probably null |
Het |
| Edar |
A |
G |
10: 58,628,641 (GRCm38) |
S59P |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,540,766 (GRCm38) |
C339* |
probably null |
Het |
| Eif5b |
G |
A |
1: 38,051,247 (GRCm38) |
G1169E |
probably damaging |
Het |
| Eif5b |
G |
A |
1: 38,045,684 (GRCm38) |
V871I |
possibly damaging |
Het |
| Erap1 |
A |
G |
13: 74,662,412 (GRCm38) |
Y290C |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,614,301 (GRCm38) |
T790S |
possibly damaging |
Het |
| Fkrp |
C |
T |
7: 16,810,924 (GRCm38) |
V338M |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,307,490 (GRCm38) |
T378A |
probably benign |
Het |
| Gm4924 |
C |
A |
10: 82,378,641 (GRCm38) |
Q17K |
possibly damaging |
Het |
| Gm9847 |
A |
G |
12: 14,494,999 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,236,919 (GRCm38) |
F429S |
probably damaging |
Het |
| Gpr162 |
G |
A |
6: 124,860,938 (GRCm38) |
R250* |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,567,594 (GRCm38) |
D295E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,584,297 (GRCm38) |
T121I |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,465,537 (GRCm38) |
M3125K |
possibly damaging |
Het |
| Hoxb6 |
T |
A |
11: 96,300,754 (GRCm38) |
Y167* |
probably null |
Het |
| Htt |
T |
C |
5: 34,849,075 (GRCm38) |
Y1443H |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,625,298 (GRCm38) |
D28G |
probably damaging |
Het |
| Impact |
T |
G |
18: 12,974,762 (GRCm38) |
V29G |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,115,952 (GRCm38) |
T2147A |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,604,903 (GRCm38) |
D473G |
possibly damaging |
Het |
| Kif26a |
T |
G |
12: 112,157,354 (GRCm38) |
L131R |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 106,993,924 (GRCm38) |
M1K |
probably null |
Het |
| Lrsam1 |
C |
A |
2: 32,941,858 (GRCm38) |
Q368H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,435,164 (GRCm38) |
Q4592R |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,110,719 (GRCm38) |
V893A |
probably damaging |
Het |
| Med13l |
G |
T |
5: 118,728,665 (GRCm38) |
V595F |
possibly damaging |
Het |
| Mocs1 |
T |
A |
17: 49,454,183 (GRCm38) |
L435Q |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,604,530 (GRCm38) |
L471P |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 98,064,816 (GRCm38) |
E1616G |
possibly damaging |
Het |
| Nacad |
T |
A |
11: 6,602,136 (GRCm38) |
S352C |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 107,369,135 (GRCm38) |
M817K |
possibly damaging |
Het |
| Ofcc1 |
C |
A |
13: 40,094,653 (GRCm38) |
L668F |
probably damaging |
Het |
| Olfr1062 |
G |
A |
2: 86,423,377 (GRCm38) |
Q100* |
probably null |
Het |
| Olfr18 |
T |
C |
9: 20,313,969 (GRCm38) |
Q309R |
probably benign |
Het |
| Olfr527 |
C |
A |
7: 140,336,067 (GRCm38) |
D68E |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,164,020 (GRCm38) |
T696A |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,662,293 (GRCm38) |
F58L |
probably benign |
Het |
| Prpf4 |
G |
T |
4: 62,415,969 (GRCm38) |
L220F |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,681,346 (GRCm38) |
D199E |
probably benign |
Het |
| Raet1e |
T |
C |
10: 22,174,405 (GRCm38) |
L29P |
probably damaging |
Het |
| Ralgapb |
A |
C |
2: 158,494,710 (GRCm38) |
T1089P |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,282,326 (GRCm38) |
E864G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,793,774 (GRCm38) |
I289F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 23,810,953 (GRCm38) |
Y406H |
probably damaging |
Het |
| Rpl31 |
C |
T |
1: 39,370,027 (GRCm38) |
R41C |
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,974,534 (GRCm38) |
S485P |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,787,970 (GRCm38) |
V249E |
possibly damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,407,603 (GRCm38) |
T362I |
possibly damaging |
Het |
| Sos1 |
C |
T |
17: 80,453,890 (GRCm38) |
V126I |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,525,303 (GRCm38) |
F215S |
probably damaging |
Het |
| Supt4a |
T |
A |
11: 87,743,287 (GRCm38) |
S110T |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,302,110 (GRCm38) |
T232S |
probably damaging |
Het |
| Tctex1d2 |
A |
G |
16: 32,419,900 (GRCm38) |
Y31C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,279,006 (GRCm38) |
C1288R |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,355,487 (GRCm38) |
L100* |
probably null |
Het |
| Tgm1 |
C |
A |
14: 55,712,436 (GRCm38) |
R105L |
probably damaging |
Het |
| Tgoln1 |
G |
A |
6: 72,616,035 (GRCm38) |
T154I |
possibly damaging |
Het |
| Trp53i13 |
G |
A |
11: 77,508,726 (GRCm38) |
T259I |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,184,770 (GRCm38) |
F320I |
possibly damaging |
Het |
| Vmn1r21 |
A |
C |
6: 57,844,094 (GRCm38) |
Y122D |
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,880,480 (GRCm38) |
D46E |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,545,290 (GRCm38) |
L9M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,046,823 (GRCm38) |
I165T |
possibly damaging |
Het |
| Vmn2r76 |
A |
T |
7: 86,226,078 (GRCm38) |
Y564N |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 110,126,050 (GRCm38) |
E300* |
probably null |
Het |
| Xdh |
T |
C |
17: 73,893,622 (GRCm38) |
D1168G |
probably damaging |
Het |
| Zcchc6 |
A |
T |
13: 59,788,629 (GRCm38) |
C817* |
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,433,444 (GRCm38) |
T67A |
probably damaging |
Het |
| Zfp941 |
G |
T |
7: 140,812,766 (GRCm38) |
H227N |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,281,075 (GRCm38) |
V399D |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,455,824 (GRCm38) |
E285G |
probably damaging |
Het |
|
| Other mutations in Itsn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Itsn2
|
APN |
12 |
4,658,027 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00647:Itsn2
|
APN |
12 |
4,613,311 (GRCm38) |
splice site |
probably benign |
|
|
IGL00933:Itsn2
|
APN |
12 |
4,707,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01686:Itsn2
|
APN |
12 |
4,636,693 (GRCm38) |
splice site |
probably benign |
|
|
IGL01873:Itsn2
|
APN |
12 |
4,632,366 (GRCm38) |
splice site |
probably benign |
|
|
IGL02200:Itsn2
|
APN |
12 |
4,636,632 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02280:Itsn2
|
APN |
12 |
4,708,961 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02388:Itsn2
|
APN |
12 |
4,629,557 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02938:Itsn2
|
APN |
12 |
4,697,216 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Gopher
|
UTSW |
12 |
4,706,983 (GRCm38) |
nonsense |
probably null |
|
|
inversus
|
UTSW |
12 |
4,639,670 (GRCm38) |
nonsense |
probably null |
|
|
Liberator
|
UTSW |
12 |
4,666,176 (GRCm38) |
nonsense |
probably null |
|
|
rolled
|
UTSW |
12 |
4,634,792 (GRCm38) |
nonsense |
probably null |
|
|
Stratofortress
|
UTSW |
12 |
4,624,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Underground
|
UTSW |
12 |
4,701,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Vole
|
UTSW |
12 |
4,673,420 (GRCm38) |
nonsense |
probably null |
|
|
R0101:Itsn2
|
UTSW |
12 |
4,633,058 (GRCm38) |
unclassified |
probably benign |
|
|
R0268:Itsn2
|
UTSW |
12 |
4,700,333 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0584:Itsn2
|
UTSW |
12 |
4,697,180 (GRCm38) |
missense |
probably benign |
|
|
R0604:Itsn2
|
UTSW |
12 |
4,658,189 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0639:Itsn2
|
UTSW |
12 |
4,712,556 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0738:Itsn2
|
UTSW |
12 |
4,635,681 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1132:Itsn2
|
UTSW |
12 |
4,658,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1163:Itsn2
|
UTSW |
12 |
4,712,009 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1169:Itsn2
|
UTSW |
12 |
4,639,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1258:Itsn2
|
UTSW |
12 |
4,673,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1297:Itsn2
|
UTSW |
12 |
4,700,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1423:Itsn2
|
UTSW |
12 |
4,673,572 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1572:Itsn2
|
UTSW |
12 |
4,650,044 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1601:Itsn2
|
UTSW |
12 |
4,658,452 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1628:Itsn2
|
UTSW |
12 |
4,629,652 (GRCm38) |
missense |
probably benign |
|
|
R1650:Itsn2
|
UTSW |
12 |
4,637,767 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1752:Itsn2
|
UTSW |
12 |
4,711,950 (GRCm38) |
splice site |
probably null |
|
|
R1758:Itsn2
|
UTSW |
12 |
4,658,160 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1942:Itsn2
|
UTSW |
12 |
4,639,670 (GRCm38) |
nonsense |
probably null |
|
|
R1976:Itsn2
|
UTSW |
12 |
4,672,733 (GRCm38) |
splice site |
probably benign |
|
|
R2000:Itsn2
|
UTSW |
12 |
4,666,176 (GRCm38) |
nonsense |
probably null |
|
|
R2060:Itsn2
|
UTSW |
12 |
4,627,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2119:Itsn2
|
UTSW |
12 |
4,707,025 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2168:Itsn2
|
UTSW |
12 |
4,633,044 (GRCm38) |
unclassified |
probably benign |
|
|
R2394:Itsn2
|
UTSW |
12 |
4,707,005 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2860:Itsn2
|
UTSW |
12 |
4,700,315 (GRCm38) |
splice site |
probably benign |
|
|
R2861:Itsn2
|
UTSW |
12 |
4,700,315 (GRCm38) |
splice site |
probably benign |
|
|
R2900:Itsn2
|
UTSW |
12 |
4,630,713 (GRCm38) |
unclassified |
probably benign |
|
|
R2991:Itsn2
|
UTSW |
12 |
4,658,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3087:Itsn2
|
UTSW |
12 |
4,666,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3881:Itsn2
|
UTSW |
12 |
4,634,546 (GRCm38) |
unclassified |
probably benign |
|
|
R4022:Itsn2
|
UTSW |
12 |
4,624,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4332:Itsn2
|
UTSW |
12 |
4,712,611 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4657:Itsn2
|
UTSW |
12 |
4,713,197 (GRCm38) |
makesense |
probably null |
|
|
R4727:Itsn2
|
UTSW |
12 |
4,707,660 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4745:Itsn2
|
UTSW |
12 |
4,661,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4770:Itsn2
|
UTSW |
12 |
4,627,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4905:Itsn2
|
UTSW |
12 |
4,634,583 (GRCm38) |
unclassified |
probably benign |
|
|
R5269:Itsn2
|
UTSW |
12 |
4,633,553 (GRCm38) |
unclassified |
probably benign |
|
|
R5314:Itsn2
|
UTSW |
12 |
4,627,960 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5345:Itsn2
|
UTSW |
12 |
4,672,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5399:Itsn2
|
UTSW |
12 |
4,653,535 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5725:Itsn2
|
UTSW |
12 |
4,630,767 (GRCm38) |
unclassified |
probably benign |
|
|
R5773:Itsn2
|
UTSW |
12 |
4,707,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6116:Itsn2
|
UTSW |
12 |
4,629,939 (GRCm38) |
unclassified |
probably benign |
|
|
R6254:Itsn2
|
UTSW |
12 |
4,624,982 (GRCm38) |
splice site |
probably null |
|
|
R6325:Itsn2
|
UTSW |
12 |
4,706,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6361:Itsn2
|
UTSW |
12 |
4,629,655 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6456:Itsn2
|
UTSW |
12 |
4,629,923 (GRCm38) |
unclassified |
probably benign |
|
|
R6494:Itsn2
|
UTSW |
12 |
4,634,792 (GRCm38) |
nonsense |
probably null |
|
|
R6854:Itsn2
|
UTSW |
12 |
4,652,382 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6941:Itsn2
|
UTSW |
12 |
4,629,641 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6961:Itsn2
|
UTSW |
12 |
4,673,420 (GRCm38) |
nonsense |
probably null |
|
|
R7326:Itsn2
|
UTSW |
12 |
4,632,985 (GRCm38) |
missense |
unknown |
|
|
R7387:Itsn2
|
UTSW |
12 |
4,639,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7465:Itsn2
|
UTSW |
12 |
4,706,983 (GRCm38) |
nonsense |
probably null |
|
|
R7471:Itsn2
|
UTSW |
12 |
4,708,198 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7814:Itsn2
|
UTSW |
12 |
4,658,561 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7854:Itsn2
|
UTSW |
12 |
4,701,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7879:Itsn2
|
UTSW |
12 |
4,701,265 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7990:Itsn2
|
UTSW |
12 |
4,635,629 (GRCm38) |
missense |
unknown |
|
|
R8009:Itsn2
|
UTSW |
12 |
4,664,553 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8115:Itsn2
|
UTSW |
12 |
4,673,602 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8143:Itsn2
|
UTSW |
12 |
4,633,003 (GRCm38) |
missense |
unknown |
|
|
R8248:Itsn2
|
UTSW |
12 |
4,662,052 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8735:Itsn2
|
UTSW |
12 |
4,671,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8748:Itsn2
|
UTSW |
12 |
4,701,337 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9018:Itsn2
|
UTSW |
12 |
4,658,091 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9386:Itsn2
|
UTSW |
12 |
4,629,730 (GRCm38) |
missense |
unknown |
|
|
R9681:Itsn2
|
UTSW |
12 |
4,633,499 (GRCm38) |
missense |
unknown |
|
|
Z1088:Itsn2
|
UTSW |
12 |
4,712,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTGACATATTTCTCTAGACTG -3'
(R):5'- AGCACTTTGGGGTTTACAAATGATG -3'
Sequencing Primer
(F):5'- CTCTAGACTGTAAACACCTTCATGTG -3'
(R):5'- AACTCTTACATTCTGTCTTGA -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation