Incidental Mutation 'R8413:Sh3tc2'
| ID |
652812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| MMRRC Submission |
067767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 62148142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 1284
(G1284A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051720
AA Change: G1284A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: G1284A
| 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: 99.5%
- 20x: 98.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,023,123 (GRCm39) |
D86E |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,663,506 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
T |
C |
16: 38,423,283 (GRCm39) |
R928G |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,853,388 (GRCm39) |
V164A |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,110,022 (GRCm39) |
H438Q |
probably damaging |
Het |
| Cfap65 |
T |
A |
1: 74,956,328 (GRCm39) |
K1084* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 15,950,676 (GRCm39) |
H3511R |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,534,274 (GRCm39) |
S178T |
possibly damaging |
Het |
| Efcab3 |
A |
C |
11: 104,811,135 (GRCm39) |
K3192N |
unknown |
Het |
| Eln |
A |
G |
5: 134,755,375 (GRCm39) |
V226A |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,063,128 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
C |
T |
5: 115,717,698 (GRCm39) |
T222I |
probably benign |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Gpc6 |
T |
A |
14: 118,129,761 (GRCm39) |
V387E |
possibly damaging |
Het |
| Gyg1 |
C |
T |
3: 20,179,619 (GRCm39) |
V255M |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,864,965 (GRCm39) |
F146I |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,900 (GRCm39) |
L1736Q |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,619 (GRCm39) |
V469A |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,157,729 (GRCm39) |
L750P |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,241,939 (GRCm39) |
V655A |
probably damaging |
Het |
| Nme8 |
C |
T |
13: 19,858,689 (GRCm39) |
D289N |
probably benign |
Het |
| Or12k5 |
T |
G |
2: 36,895,402 (GRCm39) |
T75P |
probably damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,416 (GRCm38) |
V222A |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,587,024 (GRCm39) |
|
probably benign |
Het |
| Or4k15 |
C |
G |
14: 50,364,827 (GRCm39) |
S264R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,502 (GRCm39) |
K80E |
probably benign |
Het |
| Or8g30 |
T |
A |
9: 39,230,401 (GRCm39) |
K170* |
probably null |
Het |
| Phf24 |
T |
A |
4: 42,937,906 (GRCm39) |
C173* |
probably null |
Het |
| Plcb2 |
A |
G |
2: 118,549,304 (GRCm39) |
F353L |
probably damaging |
Het |
| Prss33 |
C |
A |
17: 24,052,930 (GRCm39) |
W248L |
probably damaging |
Het |
| Rgs3 |
T |
G |
4: 62,544,254 (GRCm39) |
L350R |
possibly damaging |
Het |
| Samd11 |
C |
T |
4: 156,333,730 (GRCm39) |
G200D |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,572,900 (GRCm39) |
S780P |
unknown |
Het |
| Slc8a3 |
T |
C |
12: 81,361,452 (GRCm39) |
K456E |
probably damaging |
Het |
| Smok2a |
T |
A |
17: 13,444,499 (GRCm39) |
H25Q |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,589 (GRCm39) |
L225P |
possibly damaging |
Het |
| Stox1 |
C |
T |
10: 62,500,754 (GRCm39) |
R602Q |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,507 (GRCm39) |
C157S |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,892,622 (GRCm39) |
S850P |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,809,849 (GRCm39) |
I1082V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,965,895 (GRCm39) |
N646K |
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,277 (GRCm39) |
Y156F |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,413 (GRCm39) |
L109H |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,115,953 (GRCm39) |
I617V |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,886,183 (GRCm39) |
Q958L |
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 |
62,123,873 (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'- GGATGCCCATGATGCTACTG -3'
(R):5'- GCTGTTTGTGTACAAGAGTCAC -3'
Sequencing Primer
(F):5'- ACTGAATATTTTCTGCTGGCGC -3'
(R):5'- AGTGACCTGGGCAACATTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation