Incidental Mutation 'R3769:Sh3rf3'
| ID |
273174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
040746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R3769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58813359-59138916 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58984191 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 275
(T275A)
|
| 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 benign
Transcript: ENSMUST00000135526
AA Change: T275A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: T275A
| 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 benign
Transcript: ENSMUST00000153031
AA Change: T275A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: T275A
| 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 |
|
| Meta Mutation Damage Score |
0.0789 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
A |
G |
7: 127,384,863 (GRCm38) |
|
probably benign |
Het |
| Apol9a |
G |
C |
15: 77,404,396 (GRCm38) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,476,106 (GRCm38) |
D1071V |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,205,303 (GRCm38) |
D1542N |
possibly damaging |
Het |
| Ccer1 |
G |
A |
10: 97,694,552 (GRCm38) |
G359E |
probably damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,552,403 (GRCm38) |
|
probably null |
Het |
| Celf1 |
T |
C |
2: 90,998,648 (GRCm38) |
V20A |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,953,204 (GRCm38) |
T318I |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,290,411 (GRCm38) |
D159G |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 111,889,881 (GRCm38) |
D369V |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,096,693 (GRCm38) |
I629K |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 65,969,927 (GRCm38) |
T41A |
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,290,569 (GRCm38) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,970,829 (GRCm38) |
T1409A |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm38) |
|
probably null |
Het |
| Fgf10 |
G |
T |
13: 118,781,547 (GRCm38) |
V124F |
probably damaging |
Het |
| Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,756,130 (GRCm38) |
V76D |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,327,245 (GRCm38) |
V48A |
unknown |
Het |
| Hoxb5 |
A |
G |
11: 96,303,969 (GRCm38) |
D119G |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,816,727 (GRCm38) |
V167A |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,549,968 (GRCm38) |
V255A |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,827,217 (GRCm38) |
|
probably null |
Het |
| Mgl2 |
T |
C |
11: 70,135,833 (GRCm38) |
L128P |
probably damaging |
Het |
| Olfr1378 |
A |
G |
11: 50,969,558 (GRCm38) |
D180G |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,270,456 (GRCm38) |
V32A |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 46,724,385 (GRCm38) |
|
probably null |
Het |
| Pla2g5 |
C |
G |
4: 138,801,435 (GRCm38) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,622,114 (GRCm38) |
R119C |
possibly damaging |
Het |
| Polr2c |
G |
A |
8: 94,860,300 (GRCm38) |
A65T |
probably damaging |
Het |
| Ppil2 |
T |
C |
16: 17,109,668 (GRCm38) |
H20R |
probably benign |
Het |
| Ptpru |
C |
T |
4: 131,808,424 (GRCm38) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 25,840,547 (GRCm38) |
D407G |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,552,076 (GRCm38) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,567,798 (GRCm38) |
D300G |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 72,491,870 (GRCm38) |
I155N |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,839,631 (GRCm38) |
Y78H |
probably damaging |
Het |
| Snx15 |
T |
A |
19: 6,123,954 (GRCm38) |
|
probably benign |
Het |
| Top1 |
A |
T |
2: 160,721,522 (GRCm38) |
I758F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,493,697 (GRCm38) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,263,700 (GRCm38) |
V157A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,717,000 (GRCm38) |
Y446C |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,076,348 (GRCm38) |
T125A |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,257,482 (GRCm38) |
I298F |
probably damaging |
Het |
|
| Other mutations in Sh3rf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Sh3rf3
|
APN |
10 |
59,049,356 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01898:Sh3rf3
|
APN |
10 |
59,049,530 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02108:Sh3rf3
|
APN |
10 |
59,135,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02148:Sh3rf3
|
APN |
10 |
59,086,740 (GRCm38) |
missense |
probably benign |
0.02 |
|
exasperated
|
UTSW |
10 |
59,086,824 (GRCm38) |
missense |
probably benign |
0.06 |
|
strained
|
UTSW |
10 |
59,007,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0421:Sh3rf3
|
UTSW |
10 |
58,984,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1056:Sh3rf3
|
UTSW |
10 |
59,007,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1313:Sh3rf3
|
UTSW |
10 |
59,071,999 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1313:Sh3rf3
|
UTSW |
10 |
59,071,999 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1615:Sh3rf3
|
UTSW |
10 |
59,131,077 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1797:Sh3rf3
|
UTSW |
10 |
59,086,667 (GRCm38) |
nonsense |
probably null |
|
|
R1869:Sh3rf3
|
UTSW |
10 |
59,083,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1924:Sh3rf3
|
UTSW |
10 |
59,104,167 (GRCm38) |
splice site |
probably benign |
|
|
R1968:Sh3rf3
|
UTSW |
10 |
58,813,987 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2353:Sh3rf3
|
UTSW |
10 |
59,007,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3617:Sh3rf3
|
UTSW |
10 |
59,086,863 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4059:Sh3rf3
|
UTSW |
10 |
59,083,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4425:Sh3rf3
|
UTSW |
10 |
59,083,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4690:Sh3rf3
|
UTSW |
10 |
58,813,704 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4832:Sh3rf3
|
UTSW |
10 |
58,814,083 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4853:Sh3rf3
|
UTSW |
10 |
59,083,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Sh3rf3
|
UTSW |
10 |
58,813,723 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4917:Sh3rf3
|
UTSW |
10 |
59,007,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4918:Sh3rf3
|
UTSW |
10 |
59,007,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4995:Sh3rf3
|
UTSW |
10 |
59,086,824 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5125:Sh3rf3
|
UTSW |
10 |
59,131,190 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5640:Sh3rf3
|
UTSW |
10 |
58,813,947 (GRCm38) |
missense |
probably benign |
|
|
R5716:Sh3rf3
|
UTSW |
10 |
59,131,283 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5756:Sh3rf3
|
UTSW |
10 |
59,104,382 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5848:Sh3rf3
|
UTSW |
10 |
58,984,153 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5908:Sh3rf3
|
UTSW |
10 |
59,049,448 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5930:Sh3rf3
|
UTSW |
10 |
59,130,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,813,984 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,813,984 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6392:Sh3rf3
|
UTSW |
10 |
59,007,076 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6450:Sh3rf3
|
UTSW |
10 |
58,984,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6470:Sh3rf3
|
UTSW |
10 |
58,983,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6639:Sh3rf3
|
UTSW |
10 |
59,083,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6685:Sh3rf3
|
UTSW |
10 |
59,086,841 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7292:Sh3rf3
|
UTSW |
10 |
59,071,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7789:Sh3rf3
|
UTSW |
10 |
59,086,815 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7941:Sh3rf3
|
UTSW |
10 |
59,007,061 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7959:Sh3rf3
|
UTSW |
10 |
59,007,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8140:Sh3rf3
|
UTSW |
10 |
59,049,355 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8142:Sh3rf3
|
UTSW |
10 |
59,049,383 (GRCm38) |
nonsense |
probably null |
|
|
R8241:Sh3rf3
|
UTSW |
10 |
59,104,420 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8406:Sh3rf3
|
UTSW |
10 |
59,083,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:Sh3rf3
|
UTSW |
10 |
59,104,170 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8727:Sh3rf3
|
UTSW |
10 |
59,104,170 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9341:Sh3rf3
|
UTSW |
10 |
59,130,980 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9343:Sh3rf3
|
UTSW |
10 |
59,130,980 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF020:Sh3rf3
|
UTSW |
10 |
58,813,768 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCATCATCCTGAGACGCAAGG -3'
(R):5'- TCCTCTTAGGAGTTGTCATTCACAC -3'
Sequencing Primer
(F):5'- TCATCCTGAGACGCAAGGTTGAC -3'
(R):5'- GAGTTGTCATTCACACAAGCAAAATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation