Incidental Mutation 'R9676:Sh3rf2'
| ID |
728361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf2
|
| Ensembl Gene |
ENSMUSG00000057719 |
| Gene Name |
SH3 domain containing ring finger 2 |
| Synonyms |
9130023G24Rik, RNF158 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42282860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 505
(P505S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072008]
[ENSMUST00000074679]
|
| AlphaFold |
Q8BZT2 |
| PDB Structure |
Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072008
AA Change: P505S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: P505S
| 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 benign
Transcript: ENSMUST00000074679
AA Change: P473S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: P473S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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 |
|---|
| 2700049A03Rik |
T |
C |
12: 71,207,905 (GRCm39) |
S534P |
possibly damaging |
Het |
| Abcb1a |
A |
T |
5: 8,714,548 (GRCm39) |
K23I |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,501 (GRCm39) |
G961E |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,769,122 (GRCm39) |
D644G |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,786,214 (GRCm39) |
V287A |
probably benign |
Het |
| Cldn10 |
G |
T |
14: 119,025,677 (GRCm39) |
V37L |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,559,823 (GRCm39) |
T1032K |
probably benign |
Het |
| Crhbp |
A |
T |
13: 95,578,711 (GRCm39) |
Y144N |
probably damaging |
Het |
| Ddn |
A |
T |
15: 98,703,252 (GRCm39) |
I680N |
possibly damaging |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
CCGGTG |
CCGGTGACGGTG |
12: 40,894,401 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GGTGCC |
GGTGCCTGTGCC |
12: 40,894,397 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGGGCCGG |
12: 40,894,387 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,079,743 (GRCm39) |
F457I |
probably damaging |
Het |
| Eif4h |
G |
A |
5: 134,668,242 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,273,682 (GRCm39) |
V1073A |
unknown |
Het |
| Gm9195 |
G |
A |
14: 72,709,667 (GRCm39) |
P482S |
unknown |
Het |
| Ifi206 |
G |
A |
1: 173,308,718 (GRCm39) |
T426I |
|
Het |
| Irag2 |
T |
G |
6: 145,120,338 (GRCm39) |
W518G |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lpar3 |
T |
C |
3: 145,990,434 (GRCm39) |
C251R |
probably damaging |
Het |
| Lrrn4cl |
A |
G |
19: 8,829,496 (GRCm39) |
D158G |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,231 (GRCm39) |
N1632K |
probably benign |
Het |
| Neb |
T |
C |
2: 52,060,558 (GRCm39) |
K6275E |
possibly damaging |
Het |
| Niban2 |
G |
A |
2: 32,802,581 (GRCm39) |
V191I |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,848 (GRCm39) |
E20G |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,253 (GRCm39) |
M271L |
probably benign |
Het |
| Or4a70 |
A |
T |
2: 89,323,780 (GRCm39) |
M292K |
probably damaging |
Het |
| Phactr3 |
G |
T |
2: 177,925,837 (GRCm39) |
E371* |
probably null |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
C |
10: 13,003,955 (GRCm39) |
Y408H |
unknown |
Het |
| Pole |
A |
G |
5: 110,443,431 (GRCm39) |
Q385R |
probably benign |
Het |
| Rps15a |
A |
T |
7: 117,714,361 (GRCm39) |
V35D |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,781 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
G |
T |
7: 96,544,638 (GRCm39) |
R2255L |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,060,384 (GRCm39) |
T435A |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,452 (GRCm39) |
V611A |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,721,823 (GRCm39) |
V256A |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,330,959 (GRCm39) |
K420R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTAGAAAGACATCTAGTTTTCCTG -3'
(R):5'- TGGGCTACACTCAATAAAAGCGC -3'
Sequencing Primer
(F):5'- AGTTTTCCTGATTCCCGGAG -3'
(R):5'- AAAAGCGCTTGTCCCTTGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation