Incidental Mutation 'R7959:Sh3rf3'
ID |
650008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf3
|
Ensembl Gene |
ENSMUSG00000037990 |
Gene Name |
SH3 domain containing ring finger 3 |
Synonyms |
Sh3md4, 4831416G18Rik |
MMRRC Submission |
046003-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R7959 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58842925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 297
(D297V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135526]
[ENSMUST00000153031]
|
AlphaFold |
Q8C120 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133151
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135526
AA Change: D297V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114368 Gene: ENSMUSG00000037990 AA Change: D297V
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153031
AA Change: D297V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120938 Gene: ENSMUSG00000037990 AA Change: D297V
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 |
0.9013 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
Mdfic |
T |
C |
6: 15,741,070 (GRCm39) |
S142P |
possibly damaging |
Het |
Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
Plcxd1 |
A |
T |
5: 110,251,422 (GRCm39) |
I333F |
probably damaging |
Het |
Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
Polr1b |
T |
A |
2: 128,950,014 (GRCm39) |
F245I |
probably damaging |
Het |
Prmt9 |
T |
A |
8: 78,287,594 (GRCm39) |
I245N |
probably damaging |
Het |
Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
Tmem184c |
A |
G |
8: 78,329,532 (GRCm39) |
V176A |
possibly damaging |
Het |
Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
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 |
R1615:Sh3rf3
|
UTSW |
10 |
58,966,899 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- TCATCTGACTCTGTGGCTTG -3'
(R):5'- ACAGCACGGTAGGATTCAGAC -3'
Sequencing Primer
(F):5'- GTGGCTTGTCCCCTTAGAC -3'
(R):5'- GCACGGTAGGATTCAGACATCTC -3'
|
Posted On |
2020-09-15 |