Incidental Mutation 'R8219:Sh3tc2'
| ID |
636584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc2
|
| Ensembl Gene |
ENSMUSG00000045629 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 2 |
| Synonyms |
D430044G18Rik |
| MMRRC Submission |
067659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8219 (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 62144932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1129
(I1129V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051720]
|
| AlphaFold |
Q80VA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051720
AA Change: I1129V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: I1129V
| 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: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 4933414I15Rik |
A |
T |
11: 50,833,363 (GRCm39) |
S80T |
unknown |
Het |
| Acnat1 |
T |
A |
4: 49,447,748 (GRCm39) |
I278F |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,750 (GRCm39) |
Q815L |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,994,199 (GRCm39) |
Y1022N |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,335 (GRCm39) |
K1034E |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,933,357 (GRCm39) |
L645Q |
unknown |
Het |
| Atg9b |
A |
G |
5: 24,591,330 (GRCm39) |
L756P |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,811 (GRCm39) |
I411N |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,529,963 (GRCm39) |
C19S |
unknown |
Het |
| Borcs5 |
A |
G |
6: 134,621,313 (GRCm39) |
H27R |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,848,159 (GRCm39) |
D1091E |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,781,777 (GRCm39) |
M801L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,376,000 (GRCm39) |
M658K |
probably damaging |
Het |
| Col1a1 |
C |
T |
11: 94,834,184 (GRCm39) |
R500C |
probably damaging |
Het |
| Cul4a |
T |
A |
8: 13,196,540 (GRCm39) |
D731E |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E2f7 |
T |
A |
10: 110,595,704 (GRCm39) |
V133E |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,393,648 (GRCm39) |
E575G |
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,926,103 (GRCm39) |
V275D |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,643 (GRCm39) |
R367* |
probably null |
Het |
| Gm6902 |
G |
A |
7: 22,973,143 (GRCm39) |
A128V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,269,654 (GRCm39) |
T786A |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,196,492 (GRCm39) |
N981D |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,456,113 (GRCm39) |
I437L |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,501 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
T |
C |
8: 71,305,499 (GRCm39) |
Y237C |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,998,431 (GRCm39) |
N354K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,572,417 (GRCm39) |
Y541H |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,123,073 (GRCm39) |
Y706H |
probably damaging |
Het |
| Lima1 |
G |
T |
15: 99,678,671 (GRCm39) |
T590K |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,649 (GRCm39) |
V107M |
possibly damaging |
Het |
| Mrpl3 |
T |
A |
9: 104,934,271 (GRCm39) |
N139K |
possibly damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,141,946 (GRCm39) |
D65V |
possibly damaging |
Het |
| Nudt16 |
T |
A |
9: 105,007,636 (GRCm39) |
N161I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,013,574 (GRCm39) |
S1091L |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,166,508 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b105 |
A |
C |
19: 13,080,284 (GRCm39) |
L122R |
probably damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,668 (GRCm39) |
D183A |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,386,247 (GRCm39) |
D303V |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,708 (GRCm39) |
F279S |
probably damaging |
Het |
| Peg3 |
G |
A |
7: 6,711,364 (GRCm39) |
T1286I |
probably benign |
Het |
| Phax |
A |
G |
18: 56,708,754 (GRCm39) |
N106S |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,705,493 (GRCm39) |
Y148H |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprn2 |
C |
A |
12: 117,148,357 (GRCm39) |
Q706K |
probably benign |
Het |
| Rdh11 |
T |
G |
12: 79,235,880 (GRCm39) |
K23Q |
probably benign |
Het |
| Rit2 |
T |
A |
18: 31,108,547 (GRCm39) |
E146V |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,436,472 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
T |
A |
3: 108,352,378 (GRCm39) |
E24V |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,384 (GRCm39) |
P92Q |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,927,575 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,911 (GRCm39) |
M148V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,952,857 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,874,117 (GRCm39) |
Y119F |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,993,200 (GRCm39) |
K562R |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,016 (GRCm39) |
E627G |
possibly damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,677,878 (GRCm39) |
L297P |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,978 (GRCm39) |
H293R |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,193,977 (GRCm39) |
K667T |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,851,699 (GRCm39) |
Q139L |
probably benign |
Het |
| Ttf2 |
T |
G |
3: 100,869,879 (GRCm39) |
K398T |
possibly damaging |
Het |
| Xpa |
A |
T |
4: 46,183,150 (GRCm39) |
M213K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,163,316 (GRCm39) |
S623T |
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 |
|
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'- GAAGGTTCAATGACCTCCAGTTC -3'
(R):5'- ACTGCCTCAATAGCCATGTG -3'
Sequencing Primer
(F):5'- CTTAAGCTAGCTACATCTGGGCAG -3'
(R):5'- GCCATGTGTAAGAAGTGTCTACTCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation