Incidental Mutation 'R1615:Sh3rf3'
| ID |
177061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
039652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58966899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 747
(M747K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153031]
|
| AlphaFold |
Q8C120 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153031
AA Change: M747K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: M747K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
RING
|
52 |
92 |
2.76e-7 |
SMART |
|
low complexity region
|
119 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
170 |
N/A |
INTRINSIC |
|
SH3
|
190 |
245 |
8.24e-18 |
SMART |
|
SH3
|
252 |
311 |
5.56e-15 |
SMART |
|
SH3
|
461 |
518 |
1.43e-17 |
SMART |
|
low complexity region
|
707 |
739 |
N/A |
INTRINSIC |
|
SH3
|
822 |
878 |
5.19e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,743,625 (GRCm39) |
C328S |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,572,407 (GRCm39) |
T4918K |
probably benign |
Het |
| Aen |
T |
C |
7: 78,555,660 (GRCm39) |
Y108H |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,627,252 (GRCm39) |
M497T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,269,535 (GRCm39) |
T1216M |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,404 (GRCm39) |
|
probably null |
Het |
| Bzw2 |
A |
G |
12: 36,169,126 (GRCm39) |
|
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,573 (GRCm39) |
H319R |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,014,457 (GRCm39) |
I2010T |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,413 (GRCm39) |
Y2522C |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,913 (GRCm39) |
I3825K |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,238,452 (GRCm39) |
D3718V |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,972,794 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fhad1 |
G |
A |
4: 141,649,634 (GRCm39) |
T836M |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,074,463 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,576,098 (GRCm39) |
C637R |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,008,436 (GRCm39) |
K809E |
probably damaging |
Het |
| Grm1 |
G |
T |
10: 10,617,252 (GRCm39) |
Y510* |
probably null |
Het |
| Hey1 |
A |
T |
3: 8,729,898 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Insyn1 |
C |
T |
9: 58,406,351 (GRCm39) |
A87V |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,350,963 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,250,911 (GRCm39) |
D7G |
probably benign |
Het |
| Lrrc1 |
T |
C |
9: 77,342,400 (GRCm39) |
D358G |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,748,765 (GRCm39) |
K248E |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,045,990 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,891,187 (GRCm39) |
L160H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,663 (GRCm39) |
H1422P |
probably damaging |
Het |
| Myo6 |
C |
T |
9: 80,215,007 (GRCm39) |
R1247C |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,695,739 (GRCm39) |
E347G |
possibly damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,593,672 (GRCm39) |
P213S |
probably benign |
Het |
| Neurl3 |
T |
C |
1: 36,308,470 (GRCm39) |
E114G |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,795,370 (GRCm39) |
I877F |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,990,651 (GRCm39) |
S1733P |
probably benign |
Het |
| Oxgr1 |
A |
T |
14: 120,260,185 (GRCm39) |
S7R |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,204,364 (GRCm39) |
|
probably benign |
Het |
| Prkag2 |
G |
T |
5: 25,080,176 (GRCm39) |
N120K |
possibly damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Saraf |
A |
G |
8: 34,632,442 (GRCm39) |
K174E |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,938,054 (GRCm39) |
Q264R |
probably benign |
Het |
| Shf |
T |
C |
2: 122,179,913 (GRCm39) |
H421R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,368 (GRCm39) |
S228P |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,110 (GRCm39) |
|
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,585,359 (GRCm39) |
|
probably benign |
Het |
| Stfa1 |
T |
G |
16: 36,100,829 (GRCm39) |
V23G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,872,498 (GRCm39) |
D371G |
probably benign |
Het |
| Tada2a |
T |
C |
11: 83,993,926 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdpoz3 |
C |
A |
3: 93,733,618 (GRCm39) |
Q98K |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,091,145 (GRCm39) |
V660A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,945,978 (GRCm39) |
Y947H |
possibly damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,162 (GRCm39) |
C362* |
probably null |
Het |
| Vmn1r81 |
T |
A |
7: 11,994,441 (GRCm39) |
N56Y |
probably damaging |
Het |
| Vsig8 |
A |
G |
1: 172,387,280 (GRCm39) |
D52G |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,764,469 (GRCm39) |
R2140C |
probably damaging |
Het |
|
| Other mutations in Sh3rf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Sh3rf3
|
APN |
10 |
58,885,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01898:Sh3rf3
|
APN |
10 |
58,885,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02108:Sh3rf3
|
APN |
10 |
58,971,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Sh3rf3
|
APN |
10 |
58,922,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
exasperated
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
strained
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Sh3rf3
|
UTSW |
10 |
58,819,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Sh3rf3
|
UTSW |
10 |
58,842,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1797:Sh3rf3
|
UTSW |
10 |
58,922,489 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Sh3rf3
|
UTSW |
10 |
58,919,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Sh3rf3
|
UTSW |
10 |
58,939,989 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Sh3rf3
|
UTSW |
10 |
58,649,809 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2353:Sh3rf3
|
UTSW |
10 |
58,842,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Sh3rf3
|
UTSW |
10 |
58,922,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3769:Sh3rf3
|
UTSW |
10 |
58,820,013 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4059:Sh3rf3
|
UTSW |
10 |
58,919,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Sh3rf3
|
UTSW |
10 |
58,919,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Sh3rf3
|
UTSW |
10 |
58,649,526 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4832:Sh3rf3
|
UTSW |
10 |
58,649,905 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4853:Sh3rf3
|
UTSW |
10 |
58,919,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Sh3rf3
|
UTSW |
10 |
58,649,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4917:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Sh3rf3
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5125:Sh3rf3
|
UTSW |
10 |
58,967,012 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5640:Sh3rf3
|
UTSW |
10 |
58,649,769 (GRCm39) |
missense |
probably benign |
|
|
R5716:Sh3rf3
|
UTSW |
10 |
58,967,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5756:Sh3rf3
|
UTSW |
10 |
58,940,204 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5848:Sh3rf3
|
UTSW |
10 |
58,819,975 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5908:Sh3rf3
|
UTSW |
10 |
58,885,270 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5930:Sh3rf3
|
UTSW |
10 |
58,966,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6392:Sh3rf3
|
UTSW |
10 |
58,842,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6450:Sh3rf3
|
UTSW |
10 |
58,819,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Sh3rf3
|
UTSW |
10 |
58,819,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Sh3rf3
|
UTSW |
10 |
58,919,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Sh3rf3
|
UTSW |
10 |
58,922,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7292:Sh3rf3
|
UTSW |
10 |
58,907,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Sh3rf3
|
UTSW |
10 |
58,922,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7941:Sh3rf3
|
UTSW |
10 |
58,842,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7959:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Sh3rf3
|
UTSW |
10 |
58,885,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8142:Sh3rf3
|
UTSW |
10 |
58,885,205 (GRCm39) |
nonsense |
probably null |
|
|
R8241:Sh3rf3
|
UTSW |
10 |
58,940,242 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8406:Sh3rf3
|
UTSW |
10 |
58,919,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8727:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9341:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF020:Sh3rf3
|
UTSW |
10 |
58,649,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGATGCCCCAGTAGGACATCTTC -3'
(R):5'- ATGGACAGAGTTGCTTGCCGAGAC -3'
Sequencing Primer
(F):5'- CCTCTGACTAGATTTACAGGACTG -3'
(R):5'- CTTGCCGAGACGGGGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation