Incidental Mutation 'R9034:Sh3tc2'
ID |
687260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc2
|
Ensembl Gene |
ENSMUSG00000045629 |
Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
Synonyms |
D430044G18Rik |
MMRRC Submission |
068863-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9034 (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 62107571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 194
(E194G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
AlphaFold |
Q80VA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051720
AA Change: E194G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000055094 Gene: ENSMUSG00000045629 AA Change: E194G
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: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
95% (57/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
Acvr2a |
T |
C |
2: 48,763,381 (GRCm39) |
Y142H |
probably damaging |
Het |
Agfg1 |
C |
T |
1: 82,853,913 (GRCm39) |
Q188* |
probably null |
Het |
Akap11 |
C |
A |
14: 78,748,299 (GRCm39) |
V1363F |
|
Het |
Aldh3a1 |
A |
G |
11: 61,104,475 (GRCm39) |
T121A |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,387,180 (GRCm39) |
D1491E |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,952,268 (GRCm39) |
T617A |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,728,359 (GRCm39) |
M362V |
|
Het |
Cant1 |
T |
A |
11: 118,302,128 (GRCm39) |
H63L |
probably benign |
Het |
Cdkn2aip |
C |
A |
8: 48,164,243 (GRCm39) |
C490F |
probably damaging |
Het |
Cenpn |
T |
A |
8: 117,661,478 (GRCm39) |
D192E |
probably benign |
Het |
Clint1 |
C |
A |
11: 45,799,782 (GRCm39) |
L514M |
probably benign |
Het |
Clint1 |
T |
A |
11: 45,799,783 (GRCm39) |
L514Q |
possibly damaging |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cspg5 |
T |
C |
9: 110,080,089 (GRCm39) |
F419S |
probably damaging |
Het |
Ehmt2 |
C |
A |
17: 35,122,417 (GRCm39) |
A328E |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 63,992,447 (GRCm39) |
S299P |
probably damaging |
Het |
F13b |
T |
C |
1: 139,435,961 (GRCm39) |
C256R |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,141 (GRCm39) |
T75A |
probably damaging |
Het |
Fam227a |
T |
C |
15: 79,532,952 (GRCm39) |
M69V |
probably benign |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Grin2c |
C |
T |
11: 115,142,065 (GRCm39) |
E785K |
probably damaging |
Het |
H2-M2 |
A |
T |
17: 37,792,176 (GRCm39) |
S325T |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,795,885 (GRCm39) |
S261P |
probably damaging |
Het |
Impg1 |
T |
A |
9: 80,347,351 (GRCm39) |
|
probably benign |
Het |
Irag2 |
T |
C |
6: 145,083,273 (GRCm39) |
V4A |
probably benign |
Het |
Krit1 |
A |
G |
5: 3,862,996 (GRCm39) |
|
probably benign |
Het |
Krtap26-1 |
A |
T |
16: 88,444,161 (GRCm39) |
N153K |
probably benign |
Het |
Mfsd14b |
G |
T |
13: 65,223,500 (GRCm39) |
A178E |
probably damaging |
Het |
Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
T |
14: 55,185,596 (GRCm39) |
I1531N |
possibly damaging |
Het |
Myo7a |
G |
T |
7: 97,728,465 (GRCm39) |
A836D |
probably benign |
Het |
Ncam1 |
A |
T |
9: 49,481,198 (GRCm39) |
S19T |
probably benign |
Het |
Nes |
T |
A |
3: 87,885,735 (GRCm39) |
D1331E |
probably damaging |
Het |
Nsd2 |
G |
A |
5: 34,037,478 (GRCm39) |
R700Q |
possibly damaging |
Het |
Nxt1 |
A |
T |
2: 148,517,331 (GRCm39) |
Y24F |
possibly damaging |
Het |
Or14c39 |
G |
A |
7: 86,343,969 (GRCm39) |
V102I |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,293,835 (GRCm39) |
H248L |
probably damaging |
Het |
Or5g24-ps1 |
A |
T |
2: 85,464,144 (GRCm39) |
T124S |
probably benign |
Het |
Or6f2 |
G |
A |
7: 139,756,884 (GRCm39) |
V284I |
probably benign |
Het |
Or8b40 |
G |
A |
9: 38,027,550 (GRCm39) |
V158M |
possibly damaging |
Het |
Or8g50 |
G |
A |
9: 39,648,886 (GRCm39) |
M258I |
probably benign |
Het |
Or9g20 |
G |
T |
2: 85,630,302 (GRCm39) |
A104E |
possibly damaging |
Het |
Pex5l |
T |
A |
3: 33,006,683 (GRCm39) |
Q562L |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,476,197 (GRCm39) |
Y1139C |
probably damaging |
Het |
Prelp |
T |
C |
1: 133,842,329 (GRCm39) |
N272S |
probably damaging |
Het |
Rtkn2 |
A |
G |
10: 67,841,416 (GRCm39) |
K188R |
probably damaging |
Het |
Sbno2 |
G |
A |
10: 79,898,591 (GRCm39) |
R624W |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,927,642 (GRCm39) |
C1374S |
probably damaging |
Het |
Serpina1e |
T |
A |
12: 103,917,361 (GRCm39) |
T103S |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,016,515 (GRCm39) |
I360N |
probably damaging |
Het |
Sphk1 |
T |
C |
11: 116,426,449 (GRCm39) |
V135A |
probably damaging |
Het |
Tnfsf10 |
G |
A |
3: 27,389,379 (GRCm39) |
D147N |
probably benign |
Het |
Tnip2 |
C |
T |
5: 34,671,177 (GRCm39) |
C22Y |
probably damaging |
Het |
Trmt9b |
C |
T |
8: 36,978,954 (GRCm39) |
R186* |
probably null |
Het |
Trp73 |
T |
C |
4: 154,152,088 (GRCm39) |
T187A |
probably benign |
Het |
Tspan33 |
C |
T |
6: 29,717,611 (GRCm39) |
Q276* |
probably null |
Het |
Ttn |
C |
T |
2: 76,542,871 (GRCm39) |
G33372R |
probably damaging |
Het |
Vmn2r31 |
T |
A |
7: 7,397,680 (GRCm39) |
T193S |
probably benign |
Het |
Vps54 |
T |
C |
11: 21,213,273 (GRCm39) |
F19L |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,296,179 (GRCm39) |
T856A |
probably damaging |
Het |
Zscan4b |
A |
T |
7: 10,634,840 (GRCm39) |
Y468N |
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 |
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 |
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'- TTTCTACTCCCAGAGATCACAGC -3'
(R):5'- ACTTCAGTTTGCCCTGGGAC -3'
Sequencing Primer
(F):5'- ACAGCACCAGGACCGTTTG -3'
(R):5'- AGTTTGCCCTGGGACCATCC -3'
|
Posted On |
2021-11-19 |