Incidental Mutation 'R6723:Sh3tc2'
| ID |
529728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| MMRRC Submission |
044841-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6723 (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 T
at 62111025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 294
(I294F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051720
AA Change: I294F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: I294F
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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 |
|---|
| Ahnak2 |
A |
G |
12: 112,745,228 (GRCm39) |
S740P |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Bcl11a |
C |
A |
11: 24,113,646 (GRCm39) |
P330T |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,085 (GRCm39) |
I124F |
probably benign |
Het |
| Dhdds |
T |
C |
4: 133,721,576 (GRCm39) |
T74A |
probably damaging |
Het |
| Dio3 |
G |
A |
12: 110,245,991 (GRCm39) |
C109Y |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 105,007,906 (GRCm39) |
T329S |
possibly damaging |
Het |
| Esp1 |
A |
T |
17: 41,039,747 (GRCm39) |
I11L |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,631,079 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Fam13c |
G |
A |
10: 70,390,355 (GRCm39) |
D539N |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,965,011 (GRCm39) |
T257A |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,453 (GRCm39) |
D603G |
probably benign |
Het |
| Gtpbp2 |
T |
C |
17: 46,479,202 (GRCm39) |
V588A |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,090 (GRCm39) |
I312M |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,450,640 (GRCm39) |
N571S |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,373,570 (GRCm39) |
D1473A |
probably benign |
Het |
| Ivl |
T |
G |
3: 92,478,694 (GRCm39) |
K457T |
unknown |
Het |
| Kdm3b |
T |
C |
18: 34,926,058 (GRCm39) |
I66T |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,824,649 (GRCm39) |
M1430K |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,739 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,099 (GRCm39) |
M163K |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,603,386 (GRCm39) |
D254G |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,387 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mrpl15 |
A |
C |
1: 4,852,789 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,750,258 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,456,018 (GRCm39) |
C938Y |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,118 (GRCm39) |
N623D |
probably damaging |
Het |
| Obscn |
T |
G |
11: 58,945,824 (GRCm39) |
E4129A |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,795 (GRCm39) |
C189S |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,639 (GRCm39) |
S156P |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,795 (GRCm39) |
K138R |
probably benign |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,770,856 (GRCm39) |
P291S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,241,188 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
C |
A |
17: 26,339,610 (GRCm39) |
T616N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Piezo1 |
T |
G |
8: 123,234,366 (GRCm39) |
Q93H |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,571,210 (GRCm39) |
Y575F |
probably damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,309,026 (GRCm39) |
F258C |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,471,482 (GRCm39) |
H1409Y |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,854,041 (GRCm39) |
I273T |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,990 (GRCm39) |
V384A |
probably damaging |
Het |
| Rnaseh1 |
T |
C |
12: 28,699,761 (GRCm39) |
L25P |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,876,888 (GRCm39) |
H68R |
probably benign |
Het |
| Sirpb1b |
A |
C |
3: 15,613,858 (GRCm39) |
L75V |
possibly damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,168,287 (GRCm39) |
T277S |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,257 (GRCm39) |
E43D |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,758 (GRCm39) |
D433E |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,125,657 (GRCm39) |
Y2451C |
possibly damaging |
Het |
| Tbl2 |
A |
T |
5: 135,188,130 (GRCm39) |
Y308F |
probably damaging |
Het |
| Tfec |
T |
C |
6: 16,835,301 (GRCm39) |
Y159C |
probably damaging |
Het |
| Top1mt |
G |
T |
15: 75,539,282 (GRCm39) |
T371K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,928,403 (GRCm39) |
V541A |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,658,049 (GRCm39) |
Y456C |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,600,441 (GRCm39) |
R17204* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,439 (GRCm39) |
V259A |
probably benign |
Het |
| Unc5a |
T |
C |
13: 55,143,702 (GRCm39) |
W129R |
probably benign |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,948 (GRCm39) |
H228L |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,245,868 (GRCm39) |
V775F |
probably damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,638 (GRCm39) |
I1536N |
probably benign |
Het |
| Zfp1 |
T |
C |
8: 112,396,971 (GRCm39) |
S317P |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,642,192 (GRCm39) |
T52A |
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 |
|
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'- TAAGGCTGGAATTCCCTCGTC -3'
(R):5'- TGCAAAACTGCTCAGAGGC -3'
Sequencing Primer
(F):5'- CGTCTGTATCACAGTCATCGAGAG -3'
(R):5'- TCCATGAGATCCAGCTGTCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation