Incidental Mutation 'R4657:Itsn2'
| ID |
352546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itsn2
|
| Ensembl Gene |
ENSMUSG00000020640 |
| Gene Name |
intersectin 2 |
| Synonyms |
Sh3d1B, Sh3p18, Ese2, Eh domain, SH3 domain regulator of endocytosis 2 |
| MMRRC Submission |
041917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4657 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 4763197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 1686
(*1686W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000111154]
[ENSMUST00000219007]
[ENSMUST00000220311]
[ENSMUST00000222363]
[ENSMUST00000220978]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062580
AA Change: *1659W
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: *1659W
| 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 |
probably benign
Transcript: ENSMUST00000111154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218211
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219007
AA Change: *1659W
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220311
AA Change: *1686W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220978
|
| Meta Mutation Damage Score |
0.8816 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (105/107) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,904,304 (GRCm39) |
V264E |
possibly damaging |
Het |
| Abcg1 |
T |
A |
17: 31,327,408 (GRCm39) |
W368R |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,504 (GRCm39) |
I476T |
possibly damaging |
Het |
| Acsm1 |
T |
A |
7: 119,239,917 (GRCm39) |
I287N |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,553,483 (GRCm39) |
V5464I |
probably benign |
Het |
| AI429214 |
T |
A |
8: 37,461,545 (GRCm39) |
L231Q |
probably damaging |
Het |
| Akp3 |
A |
G |
1: 87,053,556 (GRCm39) |
|
probably benign |
Het |
| Amy2b |
C |
T |
3: 113,060,793 (GRCm39) |
|
noncoding transcript |
Het |
| Apoa5 |
A |
G |
9: 46,181,170 (GRCm39) |
Q82R |
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,896,278 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
C |
A |
3: 132,940,442 (GRCm39) |
G48V |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,109,079 (GRCm39) |
F1099L |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,975,955 (GRCm39) |
N1786K |
probably benign |
Het |
| Cav2 |
A |
T |
6: 17,281,409 (GRCm39) |
D17V |
probably null |
Het |
| Ccdc148 |
G |
T |
2: 58,891,900 (GRCm39) |
N238K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,981 (GRCm39) |
I463F |
probably damaging |
Het |
| Cd8b1 |
C |
T |
6: 71,306,758 (GRCm39) |
H162Y |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,858 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,964,513 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
T |
C |
6: 123,209,155 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
T |
A |
8: 123,861,314 (GRCm39) |
*558R |
probably null |
Het |
| Cs |
A |
G |
10: 128,189,006 (GRCm39) |
I172V |
probably benign |
Het |
| Cyp2ab1 |
A |
T |
16: 20,131,822 (GRCm39) |
L306Q |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,344,814 (GRCm39) |
V98E |
probably damaging |
Het |
| Dcaf15 |
A |
C |
8: 84,829,467 (GRCm39) |
S92A |
probably damaging |
Het |
| Dkk3 |
T |
C |
7: 111,748,253 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,156,162 (GRCm39) |
C163S |
probably benign |
Het |
| Eda2r |
T |
A |
X: 96,385,239 (GRCm39) |
Q171L |
probably damaging |
Het |
| Eml4 |
A |
T |
17: 83,758,377 (GRCm39) |
K397* |
probably null |
Het |
| Eml6 |
A |
T |
11: 29,755,108 (GRCm39) |
I889N |
possibly damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,964 (GRCm39) |
D384E |
possibly damaging |
Het |
| Fzr1 |
T |
A |
10: 81,203,386 (GRCm39) |
|
probably null |
Het |
| Gm13889 |
G |
T |
2: 93,786,921 (GRCm39) |
F61L |
probably damaging |
Het |
| Gm14149 |
A |
T |
2: 151,072,684 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
T |
A |
1: 16,839,642 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
G |
A |
5: 52,740,262 (GRCm39) |
|
noncoding transcript |
Het |
| Gp2 |
T |
C |
7: 119,056,391 (GRCm39) |
I27M |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,279 (GRCm39) |
|
probably null |
Het |
| Gucd1 |
T |
C |
10: 75,346,959 (GRCm39) |
N97S |
probably benign |
Het |
| H2bc27 |
C |
T |
11: 58,839,797 (GRCm39) |
P11L |
probably benign |
Het |
| H2-Q7 |
T |
A |
17: 35,661,735 (GRCm39) |
V326E |
possibly damaging |
Het |
| Haao |
A |
T |
17: 84,139,774 (GRCm39) |
D227E |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,264,104 (GRCm39) |
S819N |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,063,557 (GRCm39) |
V501A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,500,301 (GRCm39) |
Y3964H |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
A |
G |
1: 173,735,226 (GRCm39) |
F68L |
probably benign |
Het |
| Ift57 |
A |
G |
16: 49,582,957 (GRCm39) |
|
probably null |
Het |
| Ighv5-12-4 |
A |
T |
12: 113,725,887 (GRCm39) |
L112* |
probably null |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Il36a |
T |
A |
2: 24,114,416 (GRCm39) |
M97K |
possibly damaging |
Het |
| Jkamp |
G |
T |
12: 72,140,823 (GRCm39) |
V123F |
probably damaging |
Het |
| Kat7 |
C |
A |
11: 95,168,424 (GRCm39) |
V411L |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,973 (GRCm39) |
V114A |
probably benign |
Het |
| Krtap5-4 |
T |
A |
7: 141,857,491 (GRCm39) |
C54S |
unknown |
Het |
| Lats1 |
T |
A |
10: 7,581,448 (GRCm39) |
N744K |
possibly damaging |
Het |
| Lpo |
T |
C |
11: 87,705,173 (GRCm39) |
E387G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,644,471 (GRCm39) |
M388R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,337 (GRCm39) |
R3208L |
probably damaging |
Het |
| Mterf1b |
T |
A |
5: 4,247,176 (GRCm39) |
C272* |
probably null |
Het |
| Myh15 |
A |
T |
16: 48,992,421 (GRCm39) |
R1632* |
probably null |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,782,699 (GRCm39) |
|
probably null |
Het |
| Nelfa |
T |
G |
5: 34,059,157 (GRCm39) |
S233R |
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,051,522 (GRCm39) |
E121V |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,933,116 (GRCm39) |
E5406D |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,415 (GRCm39) |
Y27* |
probably null |
Het |
| Or7e177 |
A |
C |
9: 20,211,919 (GRCm39) |
H142P |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,926 (GRCm39) |
L282P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,233,033 (GRCm39) |
|
probably null |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,900 (GRCm39) |
I335M |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,354 (GRCm39) |
D726E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,434,391 (GRCm39) |
Q2349L |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,743 (GRCm39) |
C2750Y |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,476,821 (GRCm38) |
C26R |
unknown |
Het |
| Prex2 |
T |
A |
1: 11,136,049 (GRCm39) |
I74N |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,641,071 (GRCm39) |
D121G |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Ralbp1 |
T |
C |
17: 66,159,686 (GRCm39) |
S526G |
probably null |
Het |
| Ric8b |
T |
C |
10: 84,828,001 (GRCm39) |
Y442H |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,605,487 (GRCm39) |
D385N |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,601,424 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,356,415 (GRCm39) |
I363T |
possibly damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,680,876 (GRCm39) |
L95P |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,962,221 (GRCm39) |
T385A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
T |
A |
5: 148,289,209 (GRCm39) |
M13L |
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,912,893 (GRCm39) |
N172S |
possibly damaging |
Het |
| Spns1 |
G |
T |
7: 125,973,474 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
T |
A |
2: 162,775,347 (GRCm39) |
S86R |
probably benign |
Het |
| Stk25 |
A |
T |
1: 93,553,378 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,254,866 (GRCm39) |
C275S |
probably benign |
Het |
| Tcp10b |
T |
A |
17: 13,292,504 (GRCm39) |
|
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,260,615 (GRCm39) |
L60H |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,930 (GRCm39) |
I182T |
probably damaging |
Het |
| Tspan10 |
A |
G |
11: 120,335,324 (GRCm39) |
N145D |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,801,412 (GRCm39) |
F487S |
probably damaging |
Het |
| Wdr86 |
A |
T |
5: 24,923,229 (GRCm39) |
D154E |
probably benign |
Het |
| Wfdc18 |
C |
A |
11: 83,600,695 (GRCm39) |
A32D |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,826,019 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
C |
A |
17: 33,019,897 (GRCm39) |
E7* |
probably null |
Het |
|
| Other mutations in Itsn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Itsn2
|
APN |
12 |
4,708,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00647:Itsn2
|
APN |
12 |
4,663,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL00933:Itsn2
|
APN |
12 |
4,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01686:Itsn2
|
APN |
12 |
4,686,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL01873:Itsn2
|
APN |
12 |
4,682,366 (GRCm39) |
splice site |
probably benign |
|
|
IGL02200:Itsn2
|
APN |
12 |
4,686,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02280:Itsn2
|
APN |
12 |
4,758,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02388:Itsn2
|
APN |
12 |
4,679,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02938:Itsn2
|
APN |
12 |
4,747,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Gopher
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
inversus
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
Liberator
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
rolled
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
Stratofortress
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Underground
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vole
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R0101:Itsn2
|
UTSW |
12 |
4,683,058 (GRCm39) |
unclassified |
probably benign |
|
|
R0268:Itsn2
|
UTSW |
12 |
4,750,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0584:Itsn2
|
UTSW |
12 |
4,747,180 (GRCm39) |
missense |
probably benign |
|
|
R0604:Itsn2
|
UTSW |
12 |
4,708,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0639:Itsn2
|
UTSW |
12 |
4,762,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Itsn2
|
UTSW |
12 |
4,685,681 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1132:Itsn2
|
UTSW |
12 |
4,708,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Itsn2
|
UTSW |
12 |
4,762,009 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1169:Itsn2
|
UTSW |
12 |
4,689,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Itsn2
|
UTSW |
12 |
4,723,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1297:Itsn2
|
UTSW |
12 |
4,750,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Itsn2
|
UTSW |
12 |
4,723,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1572:Itsn2
|
UTSW |
12 |
4,700,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1601:Itsn2
|
UTSW |
12 |
4,708,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Itsn2
|
UTSW |
12 |
4,679,652 (GRCm39) |
missense |
probably benign |
|
|
R1650:Itsn2
|
UTSW |
12 |
4,687,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1752:Itsn2
|
UTSW |
12 |
4,761,950 (GRCm39) |
splice site |
probably null |
|
|
R1758:Itsn2
|
UTSW |
12 |
4,708,160 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1942:Itsn2
|
UTSW |
12 |
4,689,670 (GRCm39) |
nonsense |
probably null |
|
|
R1976:Itsn2
|
UTSW |
12 |
4,722,733 (GRCm39) |
splice site |
probably benign |
|
|
R2000:Itsn2
|
UTSW |
12 |
4,716,176 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Itsn2
|
UTSW |
12 |
4,677,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Itsn2
|
UTSW |
12 |
4,757,025 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2168:Itsn2
|
UTSW |
12 |
4,683,044 (GRCm39) |
unclassified |
probably benign |
|
|
R2394:Itsn2
|
UTSW |
12 |
4,757,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2860:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2861:Itsn2
|
UTSW |
12 |
4,750,315 (GRCm39) |
splice site |
probably benign |
|
|
R2900:Itsn2
|
UTSW |
12 |
4,680,713 (GRCm39) |
unclassified |
probably benign |
|
|
R2991:Itsn2
|
UTSW |
12 |
4,708,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3087:Itsn2
|
UTSW |
12 |
4,716,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Itsn2
|
UTSW |
12 |
4,684,546 (GRCm39) |
unclassified |
probably benign |
|
|
R4022:Itsn2
|
UTSW |
12 |
4,674,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Itsn2
|
UTSW |
12 |
4,762,611 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4727:Itsn2
|
UTSW |
12 |
4,757,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4745:Itsn2
|
UTSW |
12 |
4,711,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Itsn2
|
UTSW |
12 |
4,677,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Itsn2
|
UTSW |
12 |
4,684,583 (GRCm39) |
unclassified |
probably benign |
|
|
R5269:Itsn2
|
UTSW |
12 |
4,683,553 (GRCm39) |
unclassified |
probably benign |
|
|
R5314:Itsn2
|
UTSW |
12 |
4,677,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5345:Itsn2
|
UTSW |
12 |
4,722,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Itsn2
|
UTSW |
12 |
4,703,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5566:Itsn2
|
UTSW |
12 |
4,676,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Itsn2
|
UTSW |
12 |
4,680,767 (GRCm39) |
unclassified |
probably benign |
|
|
R5773:Itsn2
|
UTSW |
12 |
4,757,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Itsn2
|
UTSW |
12 |
4,679,939 (GRCm39) |
unclassified |
probably benign |
|
|
R6254:Itsn2
|
UTSW |
12 |
4,674,982 (GRCm39) |
splice site |
probably null |
|
|
R6325:Itsn2
|
UTSW |
12 |
4,756,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Itsn2
|
UTSW |
12 |
4,679,655 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6456:Itsn2
|
UTSW |
12 |
4,679,923 (GRCm39) |
unclassified |
probably benign |
|
|
R6494:Itsn2
|
UTSW |
12 |
4,684,792 (GRCm39) |
nonsense |
probably null |
|
|
R6854:Itsn2
|
UTSW |
12 |
4,702,382 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6941:Itsn2
|
UTSW |
12 |
4,679,641 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6961:Itsn2
|
UTSW |
12 |
4,723,420 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Itsn2
|
UTSW |
12 |
4,682,985 (GRCm39) |
missense |
unknown |
|
|
R7387:Itsn2
|
UTSW |
12 |
4,689,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Itsn2
|
UTSW |
12 |
4,756,983 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Itsn2
|
UTSW |
12 |
4,758,198 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7814:Itsn2
|
UTSW |
12 |
4,708,561 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7854:Itsn2
|
UTSW |
12 |
4,751,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Itsn2
|
UTSW |
12 |
4,751,265 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7990:Itsn2
|
UTSW |
12 |
4,685,629 (GRCm39) |
missense |
unknown |
|
|
R8009:Itsn2
|
UTSW |
12 |
4,714,553 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8115:Itsn2
|
UTSW |
12 |
4,723,602 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8143:Itsn2
|
UTSW |
12 |
4,683,003 (GRCm39) |
missense |
unknown |
|
|
R8248:Itsn2
|
UTSW |
12 |
4,712,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Itsn2
|
UTSW |
12 |
4,721,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Itsn2
|
UTSW |
12 |
4,751,337 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9018:Itsn2
|
UTSW |
12 |
4,708,091 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9386:Itsn2
|
UTSW |
12 |
4,679,730 (GRCm39) |
missense |
unknown |
|
|
R9681:Itsn2
|
UTSW |
12 |
4,683,499 (GRCm39) |
missense |
unknown |
|
|
Z1088:Itsn2
|
UTSW |
12 |
4,762,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACAAAGATATCTGATGCTCAC -3'
(R):5'- CACTAGTACAAGGCACTGTGC -3'
Sequencing Primer
(F):5'- CACATGATGTTTATTCCCCAGAC -3'
(R):5'- ACAAGGCACTGTGCTGTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation