Incidental Mutation 'R9249:Sh3tc2'
ID |
701461 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc2
|
Ensembl Gene |
ENSMUSG00000045629 |
Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
Synonyms |
D430044G18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9249 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 62107598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 203
(N203T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
AlphaFold |
Q80VA5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051720
AA Change: N203T
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000055094 Gene: ENSMUSG00000045629 AA Change: N203T
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: 99.7%
- 20x: 98.9%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,220,165 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,733,690 (GRCm39) |
F1650S |
probably damaging |
Het |
Bscl2 |
A |
T |
19: 8,820,378 (GRCm39) |
D133V |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,590,288 (GRCm39) |
Y1564C |
|
Het |
Ccdc182 |
T |
C |
11: 88,185,178 (GRCm39) |
V86A |
probably benign |
Het |
Cd44 |
T |
G |
2: 102,661,747 (GRCm39) |
T616P |
possibly damaging |
Het |
Cep152 |
C |
T |
2: 125,405,904 (GRCm39) |
E1543K |
probably benign |
Het |
Chpf2 |
C |
A |
5: 24,794,235 (GRCm39) |
T135K |
probably damaging |
Het |
Cntn4 |
C |
T |
6: 106,466,722 (GRCm39) |
P208L |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
Csmd2 |
C |
A |
4: 128,313,323 (GRCm39) |
Y1333* |
probably null |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dbndd2 |
T |
C |
2: 164,328,077 (GRCm39) |
|
probably benign |
Het |
Ecpas |
T |
C |
4: 58,869,427 (GRCm39) |
K280R |
probably damaging |
Het |
Egfl8 |
C |
A |
17: 34,833,491 (GRCm39) |
A133S |
probably benign |
Het |
Fasn |
T |
C |
11: 120,703,915 (GRCm39) |
H1475R |
probably benign |
Het |
Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
Gzmd |
T |
G |
14: 56,368,790 (GRCm39) |
M35L |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,762,890 (GRCm39) |
L873Q |
probably damaging |
Het |
Hsd3b6 |
T |
C |
3: 98,713,679 (GRCm39) |
K207E |
probably benign |
Het |
Ikbkb |
T |
A |
8: 23,171,735 (GRCm39) |
K171* |
probably null |
Het |
Il21 |
T |
A |
3: 37,279,677 (GRCm39) |
|
probably null |
Het |
Itga1 |
T |
C |
13: 115,185,834 (GRCm39) |
N56S |
probably damaging |
Het |
Map1lc3b |
T |
C |
8: 122,322,833 (GRCm39) |
|
probably null |
Het |
Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
Myh3 |
C |
T |
11: 66,975,855 (GRCm39) |
P296S |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Myot |
T |
C |
18: 44,479,265 (GRCm39) |
V334A |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,186,988 (GRCm39) |
E12G |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Nvl |
A |
G |
1: 180,962,593 (GRCm39) |
Y126H |
probably damaging |
Het |
Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,660 (GRCm39) |
F202I |
probably benign |
Het |
Or8g29-ps1 |
T |
A |
9: 39,200,602 (GRCm39) |
N195Y |
unknown |
Het |
Or8g36 |
A |
T |
9: 39,422,149 (GRCm39) |
I289N |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,122,012 (GRCm39) |
D651E |
probably benign |
Het |
Papola |
T |
A |
12: 105,799,403 (GRCm39) |
H677Q |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,635,377 (GRCm39) |
S59G |
probably benign |
Het |
Pkd1l2 |
T |
A |
8: 117,746,159 (GRCm39) |
I1944F |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Polb |
A |
T |
8: 23,143,084 (GRCm39) |
N37K |
probably benign |
Het |
Ppfia2 |
T |
C |
10: 106,749,429 (GRCm39) |
V1105A |
probably damaging |
Het |
Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,914,456 (GRCm39) |
D1154G |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,129,550 (GRCm39) |
N1590K |
probably damaging |
Het |
Sec31a |
C |
A |
5: 100,533,083 (GRCm39) |
R163L |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
C |
T |
12: 104,231,728 (GRCm39) |
Q122* |
probably null |
Het |
Sgo2b |
A |
C |
8: 64,391,407 (GRCm39) |
Y153* |
probably null |
Het |
Sgsm1 |
T |
A |
5: 113,428,201 (GRCm39) |
H329L |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,794,159 (GRCm39) |
T183K |
probably damaging |
Het |
Slc6a20a |
T |
C |
9: 123,507,941 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,891,156 (GRCm39) |
F732S |
probably damaging |
Het |
Spata16 |
T |
C |
3: 26,787,030 (GRCm39) |
V236A |
possibly damaging |
Het |
Stard5 |
A |
G |
7: 83,281,253 (GRCm39) |
D2G |
probably damaging |
Het |
Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
Tspan10 |
T |
C |
11: 120,337,051 (GRCm39) |
F274L |
probably benign |
Het |
Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
Vmn1r6 |
A |
G |
6: 56,979,760 (GRCm39) |
R141G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 101,996,359 (GRCm39) |
S3168P |
possibly damaging |
Het |
Zfp458 |
T |
A |
13: 67,405,218 (GRCm39) |
H407L |
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 |
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 |
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'- AAATTGCCTGGGCTTTGCATC -3'
(R):5'- TTGCTCTTCCAAACACCTGAATAC -3'
Sequencing Primer
(F):5'- GGGCTTTGCATCTAAGTGTCACC -3'
(R):5'- GGACATCAATTCTATTCTGCACAAAC -3'
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Posted On |
2022-03-25 |