Incidental Mutation 'R8144:Sh3rf2'
| ID |
632714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf2
|
| Ensembl Gene |
ENSMUSG00000057719 |
| Gene Name |
SH3 domain containing ring finger 2 |
| Synonyms |
9130023G24Rik, RNF158 |
| MMRRC Submission |
067572-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42186732-42292025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42274124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 430
(T430I)
|
| 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: T430I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: T430I
| 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: T398I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: T398I
| 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: 99.7%
- 3x: 99.4%
- 10x: 98.0%
- 20x: 90.8%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
C |
9: 57,166,388 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,546,962 (GRCm39) |
D389G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,319 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
G |
A |
13: 68,882,754 (GRCm39) |
Q328* |
probably null |
Het |
| Arhgef40 |
T |
A |
14: 52,235,632 (GRCm39) |
V1171E |
probably damaging |
Het |
| Arrb1 |
G |
A |
7: 99,247,659 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
G |
A |
8: 110,459,233 (GRCm39) |
A343V |
probably benign |
Het |
| C3 |
A |
T |
17: 57,533,276 (GRCm39) |
V109E |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,367,827 (GRCm39) |
V595E |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,474 (GRCm39) |
S175P |
probably damaging |
Het |
| Eif2b1 |
A |
T |
5: 124,711,208 (GRCm39) |
M187K |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,537,911 (GRCm39) |
L533P |
probably damaging |
Het |
| Fam221b |
T |
G |
4: 43,665,465 (GRCm39) |
Q331P |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,466 (GRCm39) |
Q331K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,333,745 (GRCm39) |
V127A |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,708,893 (GRCm39) |
P1719L |
unknown |
Het |
| Lars1 |
T |
G |
18: 42,351,591 (GRCm39) |
H871P |
probably damaging |
Het |
| Mamdc4 |
A |
T |
2: 25,457,019 (GRCm39) |
V590E |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,037 (GRCm39) |
I457T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,039 (GRCm39) |
V717A |
probably benign |
Het |
| Or1p1c |
C |
A |
11: 74,160,384 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or8d2b |
A |
T |
9: 38,788,662 (GRCm39) |
L63F |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,054,537 (GRCm39) |
Q170L |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,742 (GRCm39) |
A1489D |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,359,278 (GRCm39) |
I15N |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,205,985 (GRCm39) |
E26A |
probably damaging |
Het |
| Poglut2 |
A |
G |
1: 44,149,966 (GRCm39) |
Y408H |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,849,846 (GRCm39) |
P367S |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,927,600 (GRCm39) |
V817E |
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,663 (GRCm39) |
D99G |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,848,542 (GRCm39) |
S556C |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,125,388 (GRCm39) |
V653L |
possibly damaging |
Het |
| Rin2 |
G |
A |
2: 145,664,225 (GRCm39) |
R33Q |
probably benign |
Het |
| Rmc1 |
A |
T |
18: 12,318,704 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,227,759 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
C |
T |
3: 135,590,404 (GRCm39) |
Q366* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,130,433 (GRCm39) |
L859* |
probably null |
Het |
| Tagln3 |
G |
T |
16: 45,544,554 (GRCm39) |
A39D |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,423,015 (GRCm39) |
C307S |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,945 (GRCm39) |
S644P |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,558,761 (GRCm39) |
D723G |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,519,145 (GRCm39) |
N195D |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,733,694 (GRCm39) |
Y589C |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,172 (GRCm39) |
T452A |
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 |
|
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'- GGATCTCCTCAGGCATGTTCTG -3'
(R):5'- AGCATGGCCAGGGTATTAAATG -3'
Sequencing Primer
(F):5'- GCTTCCTTCACCAGATCCTTGTG -3'
(R):5'- TAAATACACGGTGAGACCTCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation