Incidental Mutation 'R1636:Sh3tc2'
ID |
173212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc2
|
Ensembl Gene |
ENSMUSG00000045629 |
Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
Synonyms |
D430044G18Rik |
MMRRC Submission |
039672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1636 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62122792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 518
(W518R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
AlphaFold |
Q80VA5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051720
AA Change: W518R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000055094 Gene: ENSMUSG00000045629 AA Change: W518R
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 |
|
Meta Mutation Damage Score |
0.0888 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
96% (85/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Abca7 |
A |
G |
10: 79,844,832 (GRCm39) |
H1518R |
probably benign |
Het |
Adam4 |
A |
G |
12: 81,466,464 (GRCm39) |
L719S |
probably damaging |
Het |
Adprm |
T |
C |
11: 66,932,549 (GRCm39) |
Y120C |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,472,923 (GRCm39) |
Y78F |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,995,761 (GRCm39) |
P665L |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,788,987 (GRCm39) |
K637R |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,966,898 (GRCm39) |
L502M |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,860,841 (GRCm39) |
L315P |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,760,110 (GRCm39) |
Y613N |
probably damaging |
Het |
Cdca7l |
G |
A |
12: 117,840,663 (GRCm39) |
R395H |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,226,156 (GRCm39) |
I368K |
probably damaging |
Het |
D6Wsu163e |
T |
C |
6: 126,923,564 (GRCm39) |
V150A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,846,169 (GRCm39) |
T470A |
probably damaging |
Het |
Def6 |
A |
G |
17: 28,442,892 (GRCm39) |
E316G |
possibly damaging |
Het |
Dip2a |
A |
T |
10: 76,157,412 (GRCm39) |
N64K |
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,587,997 (GRCm39) |
E631* |
probably null |
Het |
Dner |
T |
C |
1: 84,563,051 (GRCm39) |
K190E |
possibly damaging |
Het |
Eif2b4 |
T |
A |
5: 31,349,610 (GRCm39) |
|
probably null |
Het |
Eif3a |
A |
T |
19: 60,770,343 (GRCm39) |
D119E |
possibly damaging |
Het |
Ercc2 |
C |
T |
7: 19,121,049 (GRCm39) |
T276M |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,715,965 (GRCm39) |
K830R |
probably benign |
Het |
F2r |
G |
T |
13: 95,740,400 (GRCm39) |
Y378* |
probably null |
Het |
Fam186a |
G |
A |
15: 99,839,539 (GRCm39) |
T2235I |
unknown |
Het |
Fmo3 |
T |
G |
1: 162,781,994 (GRCm39) |
K453T |
probably benign |
Het |
Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
Galns |
A |
G |
8: 123,330,955 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
T |
C |
12: 48,602,550 (GRCm39) |
|
noncoding transcript |
Het |
Gm9955 |
C |
A |
18: 24,842,287 (GRCm39) |
|
probably benign |
Het |
Immp2l |
T |
C |
12: 41,750,470 (GRCm39) |
V113A |
probably damaging |
Het |
Iyd |
T |
A |
10: 3,495,588 (GRCm39) |
M82K |
possibly damaging |
Het |
Kif21a |
A |
T |
15: 90,869,008 (GRCm39) |
|
probably benign |
Het |
Lipf |
A |
G |
19: 33,953,935 (GRCm39) |
D342G |
probably damaging |
Het |
Lmbrd1 |
C |
A |
1: 24,786,011 (GRCm39) |
Y435* |
probably null |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,763,265 (GRCm39) |
S355P |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Neo1 |
T |
C |
9: 58,820,560 (GRCm39) |
S788G |
probably damaging |
Het |
Nfx1 |
T |
G |
4: 41,016,072 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,069,737 (GRCm39) |
V546A |
possibly damaging |
Het |
Nwd2 |
G |
A |
5: 63,964,900 (GRCm39) |
V1495M |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,150,621 (GRCm39) |
I84F |
probably benign |
Het |
Obscn |
A |
G |
11: 59,013,463 (GRCm39) |
F1153S |
probably damaging |
Het |
Ofcc1 |
A |
T |
13: 40,333,904 (GRCm39) |
C396S |
possibly damaging |
Het |
Omg |
A |
G |
11: 79,393,166 (GRCm39) |
S231P |
probably benign |
Het |
Or51a7 |
T |
G |
7: 102,614,898 (GRCm39) |
I197S |
possibly damaging |
Het |
Or8g35 |
T |
C |
9: 39,381,215 (GRCm39) |
D269G |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,016 (GRCm39) |
T53A |
possibly damaging |
Het |
Pik3r2 |
A |
T |
8: 71,224,542 (GRCm39) |
H244Q |
probably benign |
Het |
Pinx1 |
A |
T |
14: 64,103,586 (GRCm39) |
H55L |
probably damaging |
Het |
Pwwp2b |
T |
A |
7: 138,834,758 (GRCm39) |
H66Q |
probably benign |
Het |
Rell2 |
A |
G |
18: 38,091,132 (GRCm39) |
D99G |
probably damaging |
Het |
Reln |
G |
A |
5: 22,203,681 (GRCm39) |
A1191V |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,316 (GRCm39) |
M1V |
probably null |
Het |
Sav1 |
A |
C |
12: 70,031,269 (GRCm39) |
H84Q |
probably benign |
Het |
Scamp5 |
T |
C |
9: 57,358,692 (GRCm39) |
D28G |
possibly damaging |
Het |
Selenbp2 |
G |
A |
3: 94,604,122 (GRCm39) |
G9D |
probably damaging |
Het |
Slc10a6 |
A |
T |
5: 103,777,012 (GRCm39) |
N29K |
probably benign |
Het |
Spindoc |
C |
A |
19: 7,351,922 (GRCm39) |
D142Y |
probably damaging |
Het |
Spink12 |
T |
A |
18: 44,240,795 (GRCm39) |
D60E |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,825,422 (GRCm39) |
I23V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,051,506 (GRCm39) |
C4079R |
probably benign |
Het |
Tex15 |
T |
G |
8: 34,066,415 (GRCm39) |
Y1948* |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,668,616 (GRCm39) |
M1046K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,213,814 (GRCm39) |
E321G |
probably damaging |
Het |
Tmem198b |
A |
G |
10: 128,638,065 (GRCm39) |
L166P |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,730,566 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,106,034 (GRCm39) |
T690I |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,198,373 (GRCm39) |
I1479T |
possibly damaging |
Het |
Vcan |
G |
A |
13: 89,851,786 (GRCm39) |
T1058I |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,096,522 (GRCm39) |
Q45R |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,790,380 (GRCm39) |
N209D |
probably damaging |
Het |
Wbp1l |
A |
G |
19: 46,632,883 (GRCm39) |
Y40C |
probably damaging |
Het |
Wdr72 |
A |
T |
9: 74,086,907 (GRCm39) |
H625L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,892,623 (GRCm39) |
Y195C |
probably damaging |
Het |
Zkscan6 |
C |
T |
11: 65,705,256 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
C |
A |
4: 127,017,560 (GRCm39) |
H1022N |
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 |
IGL03062:Sh3tc2
|
APN |
18 |
62,144,951 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGATGATGTGGAGCACTTTGCCC -3'
(R):5'- TCTGCGAATGGCACAACTTCCTC -3'
Sequencing Primer
(F):5'- GAGCACTTTGCCCCCATC -3'
(R):5'- ACTGAACTCATGGTCTGGCAG -3'
|
Posted On |
2014-04-24 |