Incidental Mutation 'R2046:Sh3tc2'
| ID |
222043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| MMRRC Submission |
040053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62123914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 892
(M892V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051720
AA Change: M892V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: M892V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (71/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,227,212 (GRCm39) |
Y328F |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,267,268 (GRCm39) |
V583I |
probably damaging |
Het |
| Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
| Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
| Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
| Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
| Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
| Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
| Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
| Itga11 |
C |
T |
9: 62,634,979 (GRCm39) |
L86F |
probably damaging |
Het |
| Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
| Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
| Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
| Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
| Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
| Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
| Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
| Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
T |
2: 27,105,094 (GRCm39) |
D676E |
possibly damaging |
Het |
| Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
| Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
| Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
| Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
| Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
| Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
probably benign |
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 |
|
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'- CGCTACTATGCTCCTTGAGAGAG -3'
(R):5'- TGTTGGTGCCTTAAGCCAAAC -3'
Sequencing Primer
(F):5'- TACTATGCTCCTTGAGAGAGACAGAG -3'
(R):5'- GTGCCTTAAGCCAAACAGCAATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation