Incidental Mutation 'R6470:Sh3rf3'
| ID |
516488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6470 (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 58819791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 201
(K201E)
|
| 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: K201E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: K201E
| 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: K201E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: K201E
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
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 |
|
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'- GTCACGGTAGGGACTATCTTG -3'
(R):5'- CATAAAGTGCTTTGCCTTGGGG -3'
Sequencing Primer
(F):5'- CTGAGGTCAGAGAACTTATACGTTCC -3'
(R):5'- TGGTACCAGTTCTCGTCA -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation