Incidental Mutation 'R3753:Sh3rf2'
ID |
271339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf2
|
Ensembl Gene |
ENSMUSG00000057719 |
Gene Name |
SH3 domain containing ring finger 2 |
Synonyms |
9130023G24Rik, RNF158 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3753 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42244373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 280
(R280C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074247
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072008]
[ENSMUST00000074679]
|
AlphaFold |
Q8BZT2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072008
AA Change: R312C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071896 Gene: ENSMUSG00000057719 AA Change: R312C
Domain | Start | End | E-Value | Type |
RING
|
12 |
52 |
7.38e-8 |
SMART |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
SH3
|
128 |
183 |
4.66e-17 |
SMART |
SH3
|
190 |
251 |
1.45e-13 |
SMART |
low complexity region
|
357 |
366 |
N/A |
INTRINSIC |
SH3
|
385 |
442 |
3.27e-12 |
SMART |
low complexity region
|
500 |
514 |
N/A |
INTRINSIC |
low complexity region
|
614 |
631 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074679
AA Change: R280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074247 Gene: ENSMUSG00000057719 AA Change: R280C
Domain | Start | End | E-Value | Type |
RING
|
12 |
52 |
7.38e-8 |
SMART |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
SH3
|
128 |
183 |
4.66e-17 |
SMART |
low complexity region
|
325 |
334 |
N/A |
INTRINSIC |
SH3
|
353 |
410 |
3.27e-12 |
SMART |
low complexity region
|
468 |
482 |
N/A |
INTRINSIC |
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably damaging |
Het |
|
Other mutations in Sh3rf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00977:Sh3rf2
|
APN |
18 |
42,244,283 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01012:Sh3rf2
|
APN |
18 |
42,187,257 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01286:Sh3rf2
|
APN |
18 |
42,272,676 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02369:Sh3rf2
|
APN |
18 |
42,289,222 (GRCm39) |
nonsense |
probably null |
|
IGL02563:Sh3rf2
|
APN |
18 |
42,289,207 (GRCm39) |
missense |
probably damaging |
0.99 |
BB004:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
BB014:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
PIT4445001:Sh3rf2
|
UTSW |
18 |
42,286,229 (GRCm39) |
missense |
probably benign |
0.00 |
R0141:Sh3rf2
|
UTSW |
18 |
42,289,122 (GRCm39) |
missense |
probably benign |
0.02 |
R0270:Sh3rf2
|
UTSW |
18 |
42,237,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R1447:Sh3rf2
|
UTSW |
18 |
42,234,736 (GRCm39) |
missense |
probably benign |
0.00 |
R1491:Sh3rf2
|
UTSW |
18 |
42,187,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R1539:Sh3rf2
|
UTSW |
18 |
42,282,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Sh3rf2
|
UTSW |
18 |
42,244,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R1749:Sh3rf2
|
UTSW |
18 |
42,286,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Sh3rf2
|
UTSW |
18 |
42,187,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R1942:Sh3rf2
|
UTSW |
18 |
42,282,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Sh3rf2
|
UTSW |
18 |
42,274,148 (GRCm39) |
missense |
probably damaging |
0.99 |
R2331:Sh3rf2
|
UTSW |
18 |
42,186,928 (GRCm39) |
missense |
probably benign |
0.04 |
R2680:Sh3rf2
|
UTSW |
18 |
42,234,715 (GRCm39) |
missense |
probably damaging |
0.98 |
R2938:Sh3rf2
|
UTSW |
18 |
42,282,789 (GRCm39) |
missense |
probably benign |
0.09 |
R2940:Sh3rf2
|
UTSW |
18 |
42,244,505 (GRCm39) |
critical splice donor site |
probably null |
|
R3861:Sh3rf2
|
UTSW |
18 |
42,286,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4322:Sh3rf2
|
UTSW |
18 |
42,244,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R5076:Sh3rf2
|
UTSW |
18 |
42,186,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R5169:Sh3rf2
|
UTSW |
18 |
42,286,126 (GRCm39) |
missense |
probably benign |
0.00 |
R5228:Sh3rf2
|
UTSW |
18 |
42,286,246 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5437:Sh3rf2
|
UTSW |
18 |
42,274,079 (GRCm39) |
missense |
probably benign |
0.44 |
R5792:Sh3rf2
|
UTSW |
18 |
42,244,203 (GRCm39) |
missense |
probably damaging |
0.99 |
R5820:Sh3rf2
|
UTSW |
18 |
42,274,112 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6159:Sh3rf2
|
UTSW |
18 |
42,289,200 (GRCm39) |
missense |
probably damaging |
0.96 |
R6366:Sh3rf2
|
UTSW |
18 |
42,286,130 (GRCm39) |
missense |
probably benign |
0.00 |
R6640:Sh3rf2
|
UTSW |
18 |
42,234,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Sh3rf2
|
UTSW |
18 |
42,234,670 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6995:Sh3rf2
|
UTSW |
18 |
42,234,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R7097:Sh3rf2
|
UTSW |
18 |
42,237,227 (GRCm39) |
splice site |
probably null |
|
R7122:Sh3rf2
|
UTSW |
18 |
42,237,227 (GRCm39) |
splice site |
probably null |
|
R7432:Sh3rf2
|
UTSW |
18 |
42,187,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R7444:Sh3rf2
|
UTSW |
18 |
42,234,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Sh3rf2
|
UTSW |
18 |
42,237,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Sh3rf2
|
UTSW |
18 |
42,289,201 (GRCm39) |
missense |
probably benign |
0.04 |
R7732:Sh3rf2
|
UTSW |
18 |
42,234,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Sh3rf2
|
UTSW |
18 |
42,244,235 (GRCm39) |
missense |
probably benign |
0.25 |
R7927:Sh3rf2
|
UTSW |
18 |
42,244,487 (GRCm39) |
missense |
probably benign |
|
R8053:Sh3rf2
|
UTSW |
18 |
42,286,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R8144:Sh3rf2
|
UTSW |
18 |
42,274,124 (GRCm39) |
missense |
probably benign |
0.01 |
R8343:Sh3rf2
|
UTSW |
18 |
42,244,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R9145:Sh3rf2
|
UTSW |
18 |
42,282,746 (GRCm39) |
missense |
|
|
R9328:Sh3rf2
|
UTSW |
18 |
42,274,161 (GRCm39) |
missense |
probably benign |
0.08 |
R9570:Sh3rf2
|
UTSW |
18 |
42,272,620 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9668:Sh3rf2
|
UTSW |
18 |
42,244,347 (GRCm39) |
missense |
probably benign |
0.31 |
R9676:Sh3rf2
|
UTSW |
18 |
42,282,860 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTATCCTTGCAGCCAAACGTC -3'
(R):5'- AATAGTGCTTAGGACGTGGTGAC -3'
Sequencing Primer
(F):5'- GCCAAACGTCTCGGCAAG -3'
(R):5'- GTGACGCATTCTTGCCTAGTGC -3'
|
Posted On |
2015-03-18 |