Incidental Mutation 'R4515:Sh3tc2'
| ID |
332889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
62086002-62148790 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 62120764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051720
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,646,006 (GRCm39) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,398,283 (GRCm39) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,641,023 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 107,981,277 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,870,150 (GRCm39) |
E52K |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,747,532 (GRCm39) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,240,703 (GRCm39) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,875,118 (GRCm39) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,154,209 (GRCm39) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,593,363 (GRCm39) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,884,528 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,457 (GRCm39) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,734,444 (GRCm39) |
D807E |
probably benign |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm39) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,537 (GRCm39) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm39) |
V947A |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,935 (GRCm39) |
H133R |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,757,781 (GRCm39) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,387,781 (GRCm39) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,921,281 (GRCm39) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,454,187 (GRCm39) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,764,242 (GRCm39) |
L138P |
probably damaging |
Het |
| Or7g12 |
T |
G |
9: 18,899,278 (GRCm39) |
|
probably null |
Het |
| Or8g34 |
C |
T |
9: 39,373,527 (GRCm39) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,251,220 (GRCm39) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,224,432 (GRCm39) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,207 (GRCm39) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,749,612 (GRCm39) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,271,860 (GRCm39) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,669,585 (GRCm39) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 90,873,557 (GRCm39) |
V288M |
possibly damaging |
Het |
| Rnf26rt |
C |
T |
6: 76,473,792 (GRCm39) |
V275I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,513,817 (GRCm39) |
S993P |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,883 (GRCm39) |
H419R |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,967,553 (GRCm39) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,098,322 (GRCm39) |
A117V |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,330,489 (GRCm39) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 79,952,435 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,566,930 (GRCm39) |
Y720H |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,568,055 (GRCm39) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,754,244 (GRCm39) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,799,643 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,919 (GRCm39) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
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 |
|
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'- GAACCACAGCACTGACCTTG -3'
(R):5'- TTATCATGTGTCATGGTTGCCAAG -3'
Sequencing Primer
(F):5'- GTCTGTTTTCTACCCCATGCAGG -3'
(R):5'- TTGCCAAGCAACACAATGTGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation