Incidental Mutation 'R3861:Sh3rf2'
| ID |
276379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf2
|
| Ensembl Gene |
ENSMUSG00000057719 |
| Gene Name |
SH3 domain containing ring finger 2 |
| Synonyms |
9130023G24Rik, RNF158 |
| MMRRC Submission |
040788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42286384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 594
(S594P)
|
| 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: S626P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: S626P
| 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: S594P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: S594P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132681
|
| Meta Mutation Damage Score |
0.1226 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
| A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
| Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
| Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
| Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
| Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
| Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
| Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
| Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
| Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
| Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
| Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
| Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
| Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
probably benign |
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 |
|
|
R3753:Sh3rf2
|
UTSW |
18 |
42,244,373 (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'- CCAGTTTTATCCGCCACAGG -3'
(R):5'- CAGTGTCAGTCATTCCCAATGTC -3'
Sequencing Primer
(F):5'- GATGACCCCTTCCCCGAC -3'
(R):5'- GTCACTCATCCCCAGAGTCAGTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation