Incidental Mutation 'R7211:Sh3tc2'
ID |
561111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc2
|
Ensembl Gene |
ENSMUSG00000045629 |
Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
Synonyms |
D430044G18Rik |
MMRRC Submission |
045339-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62122474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 412
(T412A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
AlphaFold |
Q80VA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051720
AA Change: T412A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055094 Gene: ENSMUSG00000045629 AA Change: T412A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (84/85) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
A |
2: 154,887,699 (GRCm39) |
V53E |
probably damaging |
Het |
A1cf |
A |
G |
19: 31,904,541 (GRCm39) |
Y268C |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,078,914 (GRCm39) |
S437C |
probably damaging |
Het |
Adamts13 |
C |
T |
2: 26,879,310 (GRCm39) |
T621I |
probably benign |
Het |
Akr1b7 |
A |
T |
6: 34,398,049 (GRCm39) |
N293Y |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,791,147 (GRCm39) |
T50S |
probably benign |
Het |
Anks1b |
C |
A |
10: 90,346,932 (GRCm39) |
A744D |
possibly damaging |
Het |
Aqr |
A |
G |
2: 113,965,204 (GRCm39) |
V587A |
probably benign |
Het |
Atm |
A |
G |
9: 53,399,860 (GRCm39) |
V1540A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,763,712 (GRCm39) |
F121S |
|
Het |
C4b |
A |
G |
17: 34,954,508 (GRCm39) |
V887A |
possibly damaging |
Het |
Cd200r1 |
A |
G |
16: 44,609,120 (GRCm39) |
T26A |
probably benign |
Het |
Ciao1 |
A |
G |
2: 127,088,928 (GRCm39) |
|
probably null |
Het |
Clba1 |
T |
A |
12: 112,774,632 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,519,775 (GRCm39) |
C200R |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,805,363 (GRCm39) |
Q1181L |
unknown |
Het |
Copb2 |
T |
A |
9: 98,456,198 (GRCm39) |
I244N |
probably damaging |
Het |
Cpb2 |
A |
G |
14: 75,512,430 (GRCm39) |
Y281C |
probably damaging |
Het |
Disp3 |
C |
A |
4: 148,325,979 (GRCm39) |
V1260F |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,067,425 (GRCm39) |
N162S |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,372,511 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,941 (GRCm39) |
|
probably null |
Het |
Efcab3 |
C |
A |
11: 104,601,539 (GRCm39) |
A284D |
probably benign |
Het |
Efcab3 |
G |
T |
11: 104,615,435 (GRCm39) |
|
probably null |
Het |
Epm2a |
T |
C |
10: 11,219,419 (GRCm39) |
Y69H |
probably benign |
Het |
Frzb |
C |
A |
2: 80,248,669 (GRCm39) |
E262* |
probably null |
Het |
Gaa |
T |
C |
11: 119,175,030 (GRCm39) |
V877A |
possibly damaging |
Het |
Gpnmb |
T |
C |
6: 49,028,949 (GRCm39) |
I489T |
possibly damaging |
Het |
Gpr31b |
T |
C |
17: 13,271,104 (GRCm39) |
T22A |
probably benign |
Het |
Gys1 |
T |
A |
7: 45,097,684 (GRCm39) |
F477Y |
possibly damaging |
Het |
Hoxc11 |
A |
C |
15: 102,863,487 (GRCm39) |
E176A |
possibly damaging |
Het |
Kcnk13 |
T |
A |
12: 100,028,076 (GRCm39) |
F384I |
probably damaging |
Het |
Ky |
A |
G |
9: 102,386,349 (GRCm39) |
E59G |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,881,491 (GRCm39) |
D93E |
probably damaging |
Het |
Lrrc23 |
A |
T |
6: 124,755,152 (GRCm39) |
N128K |
probably benign |
Het |
Lrrc71 |
G |
T |
3: 87,650,633 (GRCm39) |
Q210K |
possibly damaging |
Het |
Map1a |
G |
A |
2: 121,135,124 (GRCm39) |
R1980H |
probably benign |
Het |
Med15 |
T |
C |
16: 17,515,977 (GRCm39) |
D15G |
unknown |
Het |
Mfng |
A |
T |
15: 78,657,268 (GRCm39) |
S69T |
probably benign |
Het |
Muc16 |
T |
G |
9: 18,409,866 (GRCm39) |
S181R |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,857,498 (GRCm39) |
Q1074L |
possibly damaging |
Het |
Myorg |
A |
G |
4: 41,498,028 (GRCm39) |
I534T |
probably damaging |
Het |
Nbea |
T |
A |
3: 55,912,322 (GRCm39) |
N1155I |
probably benign |
Het |
Nbeal1 |
T |
G |
1: 60,240,110 (GRCm39) |
L159V |
probably damaging |
Het |
Nudt1 |
C |
A |
5: 140,323,402 (GRCm39) |
P118Q |
possibly damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,950 (GRCm39) |
T182S |
probably benign |
Het |
Or8g37 |
A |
C |
9: 39,731,154 (GRCm39) |
Q73P |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,173 (GRCm39) |
V631D |
probably benign |
Het |
Pcna |
A |
C |
2: 132,091,792 (GRCm39) |
V203G |
probably damaging |
Het |
Pgf |
G |
T |
12: 85,222,549 (GRCm39) |
N33K |
probably benign |
Het |
Pgm2 |
T |
C |
5: 64,263,193 (GRCm39) |
L280P |
probably damaging |
Het |
Plcg1 |
G |
A |
2: 160,573,794 (GRCm39) |
A20T |
probably benign |
Het |
Pou2af2 |
G |
T |
9: 51,201,733 (GRCm39) |
Q108K |
probably damaging |
Het |
Prdx5 |
G |
T |
19: 6,884,958 (GRCm39) |
D126E |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,200,296 (GRCm39) |
T20A |
probably benign |
Het |
Prr14l |
T |
A |
5: 32,987,431 (GRCm39) |
Q688L |
probably damaging |
Het |
Pxdn |
T |
G |
12: 30,034,903 (GRCm39) |
D253E |
possibly damaging |
Het |
Rbm18 |
A |
T |
2: 36,012,905 (GRCm39) |
C53* |
probably null |
Het |
Rprm |
A |
T |
2: 53,975,270 (GRCm39) |
L16Q |
probably benign |
Het |
Saysd1 |
A |
G |
14: 20,127,576 (GRCm39) |
F116S |
probably damaging |
Het |
Scg3 |
A |
G |
9: 75,589,366 (GRCm39) |
S96P |
probably benign |
Het |
Scgb1b3 |
C |
T |
7: 31,075,078 (GRCm39) |
L16F |
unknown |
Het |
Skint6 |
T |
C |
4: 113,095,566 (GRCm39) |
N31S |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,805,770 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
C |
T |
7: 15,874,538 (GRCm39) |
T262I |
possibly damaging |
Het |
Smarcc1 |
A |
T |
9: 109,979,082 (GRCm39) |
K188N |
probably damaging |
Het |
Taf6 |
T |
C |
5: 138,177,088 (GRCm39) |
T660A |
possibly damaging |
Het |
Tbx2 |
C |
T |
11: 85,725,540 (GRCm39) |
R164C |
probably damaging |
Het |
Tec |
T |
C |
5: 72,939,355 (GRCm39) |
D220G |
probably null |
Het |
Tfec |
A |
T |
6: 16,867,464 (GRCm39) |
W59R |
probably damaging |
Het |
Tmtc2 |
G |
T |
10: 105,409,587 (GRCm39) |
S8R |
probably benign |
Het |
Tmtc3 |
A |
T |
10: 100,283,467 (GRCm39) |
M696K |
probably benign |
Het |
Trpc3 |
A |
T |
3: 36,694,882 (GRCm39) |
S691T |
possibly damaging |
Het |
Ttf2 |
A |
T |
3: 100,866,623 (GRCm39) |
M503K |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,619,031 (GRCm39) |
H312R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,032 (GRCm39) |
Y19627C |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,149,177 (GRCm39) |
S143P |
probably benign |
Het |
Usp53 |
A |
G |
3: 122,751,299 (GRCm39) |
S253P |
probably damaging |
Het |
Utp18 |
A |
G |
11: 93,776,206 (GRCm39) |
V93A |
probably benign |
Het |
Utrn |
T |
C |
10: 12,277,079 (GRCm39) |
N3413D |
possibly damaging |
Het |
Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly 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 |
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 |
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'- TGAAGCCATCCAGAATCTCCAG -3'
(R):5'- AGCCTTCGTGATCTAGAAAAGC -3'
Sequencing Primer
(F):5'- GCCATCCAGAATCTCCAGAATGATC -3'
(R):5'- CTTCGTGATCTAGAAAAGCCAAGATG -3'
|
Posted On |
2019-06-26 |