Incidental Mutation 'R9341:Sh3rf3'
| ID |
707501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58966802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 715
(K715E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153031]
|
| AlphaFold |
Q8C120 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153031
AA Change: K715E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: K715E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat2 |
T |
C |
17: 13,167,538 (GRCm39) |
N166S |
probably damaging |
Het |
| Agap2 |
G |
C |
10: 126,927,559 (GRCm39) |
G1147R |
unknown |
Het |
| Atp8b2 |
A |
T |
3: 89,855,811 (GRCm39) |
F446I |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,704,315 (GRCm39) |
M822K |
possibly damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,447 (GRCm39) |
E745G |
probably damaging |
Het |
| Clec4a2 |
G |
T |
6: 123,104,955 (GRCm39) |
A82S |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,704,909 (GRCm39) |
N749S |
unknown |
Het |
| Col9a2 |
T |
A |
4: 120,911,483 (GRCm39) |
M608K |
probably benign |
Het |
| Cope |
T |
C |
8: 70,761,228 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,397,730 (GRCm39) |
|
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,748 (GRCm39) |
T440A |
possibly damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,737,551 (GRCm39) |
T152I |
probably damaging |
Het |
| Gm16503 |
A |
T |
4: 147,625,508 (GRCm39) |
M1L |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,717,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,133,903 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,618 (GRCm39) |
D345G |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,975,951 (GRCm39) |
L368P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,788,705 (GRCm39) |
S1371T |
probably benign |
Het |
| Mllt3 |
T |
A |
4: 87,792,168 (GRCm39) |
E109D |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,134,633 (GRCm39) |
D479N |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,735,324 (GRCm39) |
R195* |
probably null |
Het |
| Pcdhga10 |
G |
T |
18: 37,880,532 (GRCm39) |
A98S |
probably benign |
Het |
| Pde8a |
A |
T |
7: 80,950,427 (GRCm39) |
Q221H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,786,399 (GRCm39) |
H2335R |
|
Het |
| Pkd1l1 |
T |
A |
11: 8,911,305 (GRCm39) |
D324V |
|
Het |
| Pou2f2 |
G |
A |
7: 24,794,277 (GRCm39) |
T363I |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,988 (GRCm39) |
I488V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,441 (GRCm39) |
|
probably null |
Het |
| Rbm7 |
T |
C |
9: 48,400,969 (GRCm39) |
D253G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,972,116 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
G |
T |
13: 51,573,553 (GRCm39) |
V245L |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,219 (GRCm39) |
D2755G |
probably benign |
Het |
| Scgn |
T |
A |
13: 24,173,829 (GRCm39) |
|
probably null |
Het |
| Sox18 |
T |
C |
2: 181,312,231 (GRCm39) |
E300G |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,190 (GRCm39) |
N394I |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,573,827 (GRCm39) |
F759L |
probably damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,193,066 (GRCm39) |
I269F |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,678,737 (GRCm39) |
D606G |
possibly damaging |
Het |
| Trh |
A |
G |
6: 92,220,823 (GRCm39) |
I13T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,217,701 (GRCm39) |
I1169T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,153,615 (GRCm39) |
D486N |
probably damaging |
Het |
| Wars2 |
T |
C |
3: 99,094,846 (GRCm39) |
L47P |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,695,576 (GRCm39) |
S425G |
probably damaging |
Het |
| Zdhhc16 |
T |
C |
19: 41,926,549 (GRCm39) |
S111P |
probably benign |
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 |
|
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 |
|
|
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'- CATGAAGTTCCTGTGGGTCC -3'
(R):5'- ACTCTCTATGGGGCAGGAAC -3'
Sequencing Primer
(F):5'- ATGAGGAGCCCTGTCCTGTAG -3'
(R):5'- AGGAACCTGCCCTGCCATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation