Incidental Mutation 'IGL03062:Sh3tc2'
| ID |
409517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62144951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 1135
(E1135V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051720
AA Change: E1135V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: E1135V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
75 |
101 |
N/A |
INTRINSIC |
|
SH3
|
179 |
238 |
1.02e0 |
SMART |
|
SH3
|
270 |
329 |
6.76e-5 |
SMART |
|
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
TPR
|
529 |
562 |
3.24e1 |
SMART |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
TPR
|
837 |
870 |
2.66e0 |
SMART |
|
Blast:TPR
|
877 |
910 |
2e-7 |
BLAST |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
Blast:TPR
|
1045 |
1078 |
1e-12 |
BLAST |
|
Blast:TPR
|
1127 |
1158 |
3e-7 |
BLAST |
|
TPR
|
1167 |
1200 |
1.04e-2 |
SMART |
|
Blast:TPR
|
1211 |
1235 |
5e-7 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(3) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
Het |
|
| Other mutations in Sh3tc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Sh3tc2
|
APN |
18 |
62,122,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Sh3tc2
|
APN |
18 |
62,123,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02036:Sh3tc2
|
APN |
18 |
62,147,978 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02189:Sh3tc2
|
APN |
18 |
62,123,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02555:Sh3tc2
|
APN |
18 |
62,123,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02827:Sh3tc2
|
APN |
18 |
62,146,230 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03033:Sh3tc2
|
APN |
18 |
62,107,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03040:Sh3tc2
|
APN |
18 |
62,122,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03386:Sh3tc2
|
APN |
18 |
62,106,382 (GRCm39) |
missense |
probably benign |
0.39 |
|
3-1:Sh3tc2
|
UTSW |
18 |
62,124,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1085:Sh3tc2
|
UTSW |
18 |
62,148,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1166:Sh3tc2
|
UTSW |
18 |
62,124,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1182:Sh3tc2
|
UTSW |
18 |
62,101,171 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1521:Sh3tc2
|
UTSW |
18 |
62,141,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1636:Sh3tc2
|
UTSW |
18 |
62,122,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1872:Sh3tc2
|
UTSW |
18 |
62,144,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Sh3tc2
|
UTSW |
18 |
62,141,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Sh3tc2
|
UTSW |
18 |
62,124,226 (GRCm39) |
nonsense |
probably null |
|
|
R2034:Sh3tc2
|
UTSW |
18 |
62,120,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Sh3tc2
|
UTSW |
18 |
62,123,914 (GRCm39) |
missense |
probably benign |
|
|
R2113:Sh3tc2
|
UTSW |
18 |
62,146,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2363:Sh3tc2
|
UTSW |
18 |
62,123,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2940:Sh3tc2
|
UTSW |
18 |
62,122,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2979:Sh3tc2
|
UTSW |
18 |
62,122,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Sh3tc2
|
UTSW |
18 |
62,123,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3718:Sh3tc2
|
UTSW |
18 |
62,123,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4334:Sh3tc2
|
UTSW |
18 |
62,123,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Sh3tc2
|
UTSW |
18 |
62,140,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Sh3tc2
|
UTSW |
18 |
62,107,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4515:Sh3tc2
|
UTSW |
18 |
62,120,764 (GRCm39) |
splice site |
probably null |
|
|
R4659:Sh3tc2
|
UTSW |
18 |
62,107,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4859:Sh3tc2
|
UTSW |
18 |
62,146,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4901:Sh3tc2
|
UTSW |
18 |
62,123,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5033:Sh3tc2
|
UTSW |
18 |
62,147,962 (GRCm39) |
splice site |
probably null |
|
|
R5269:Sh3tc2
|
UTSW |
18 |
62,108,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5439:Sh3tc2
|
UTSW |
18 |
62,122,704 (GRCm39) |
nonsense |
probably null |
|
|
R5467:Sh3tc2
|
UTSW |
18 |
62,123,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5468:Sh3tc2
|
UTSW |
18 |
62,106,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5527:Sh3tc2
|
UTSW |
18 |
62,144,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5829:Sh3tc2
|
UTSW |
18 |
62,123,986 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5880:Sh3tc2
|
UTSW |
18 |
62,106,382 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5948:Sh3tc2
|
UTSW |
18 |
62,146,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Sh3tc2
|
UTSW |
18 |
62,123,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Sh3tc2
|
UTSW |
18 |
62,110,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5995:Sh3tc2
|
UTSW |
18 |
62,123,081 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6309:Sh3tc2
|
UTSW |
18 |
62,101,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6339:Sh3tc2
|
UTSW |
18 |
62,108,642 (GRCm39) |
nonsense |
probably null |
|
|
R6648:Sh3tc2
|
UTSW |
18 |
62,148,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Sh3tc2
|
UTSW |
18 |
62,111,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Sh3tc2
|
UTSW |
18 |
62,094,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7211:Sh3tc2
|
UTSW |
18 |
62,122,474 (GRCm39) |
missense |
probably benign |
|
|
R7367:Sh3tc2
|
UTSW |
18 |
62,122,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Sh3tc2
|
UTSW |
18 |
62,148,042 (GRCm39) |
nonsense |
probably null |
|
|
R7727:Sh3tc2
|
UTSW |
18 |
62,122,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7823:Sh3tc2
|
UTSW |
18 |
62,086,188 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8191:Sh3tc2
|
UTSW |
18 |
62,106,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Sh3tc2
|
UTSW |
18 |
62,086,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Sh3tc2
|
UTSW |
18 |
62,144,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8260:Sh3tc2
|
UTSW |
18 |
62,146,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Sh3tc2
|
UTSW |
18 |
62,148,142 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8413:Sh3tc2
|
UTSW |
18 |
62,123,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Sh3tc2
|
UTSW |
18 |
62,107,571 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9043:Sh3tc2
|
UTSW |
18 |
62,122,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9218:Sh3tc2
|
UTSW |
18 |
62,101,101 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9249:Sh3tc2
|
UTSW |
18 |
62,107,598 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Sh3tc2
|
UTSW |
18 |
62,122,980 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Sh3tc2
|
UTSW |
18 |
62,148,062 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Sh3tc2
|
UTSW |
18 |
62,124,389 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Sh3tc2
|
UTSW |
18 |
62,122,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation