Incidental Mutation 'R1056:Sh3rf3'
| ID |
94385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
039146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58842904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 290
(W290L)
|
| 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 damaging
Transcript: ENSMUST00000135526
AA Change: W290L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: W290L
| 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 damaging
Transcript: ENSMUST00000153031
AA Change: W290L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: W290L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,924,295 (GRCm39) |
Y1649C |
probably damaging |
Het |
| Abcc10 |
A |
C |
17: 46,614,880 (GRCm39) |
C1459W |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,712,097 (GRCm39) |
F278I |
probably benign |
Het |
| Anks1b |
G |
T |
10: 90,757,291 (GRCm39) |
|
probably null |
Het |
| Bak1 |
A |
G |
17: 27,240,247 (GRCm39) |
S147P |
possibly damaging |
Het |
| Bltp1 |
C |
A |
3: 37,037,602 (GRCm39) |
H2469N |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,829 (GRCm39) |
M1152K |
probably benign |
Het |
| C7 |
T |
C |
15: 5,075,260 (GRCm39) |
N144S |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,967 (GRCm39) |
V748A |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,100,087 (GRCm39) |
G337D |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,916,375 (GRCm39) |
S859P |
probably benign |
Het |
| Ccne2 |
T |
C |
4: 11,192,707 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,051 (GRCm39) |
I541N |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,177 (GRCm39) |
N58I |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,822,402 (GRCm39) |
S832P |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,652,038 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Coq2 |
G |
T |
5: 100,805,813 (GRCm39) |
N274K |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,077,720 (GRCm39) |
V214E |
probably damaging |
Het |
| Dgkg |
G |
C |
16: 22,419,291 (GRCm39) |
P70A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,147,731 (GRCm39) |
I966M |
probably benign |
Het |
| Eif5b |
C |
G |
1: 38,061,248 (GRCm39) |
R380G |
unknown |
Het |
| Fat4 |
T |
A |
3: 38,945,541 (GRCm39) |
I1478N |
probably damaging |
Het |
| Impact |
A |
T |
18: 13,109,581 (GRCm39) |
I92L |
probably benign |
Het |
| Ly6c2 |
A |
G |
15: 74,983,445 (GRCm39) |
|
probably null |
Het |
| Lypd6b |
G |
A |
2: 49,837,468 (GRCm39) |
V147I |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,769,894 (GRCm39) |
D192G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,586,344 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,739,484 (GRCm39) |
T732I |
possibly damaging |
Het |
| Myrf |
C |
T |
19: 10,200,850 (GRCm39) |
M274I |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 41,003,057 (GRCm39) |
R686Q |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,164,581 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,608 (GRCm39) |
V145I |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,625 (GRCm39) |
E233D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,069 (GRCm39) |
K790* |
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,774,937 (GRCm39) |
E1668G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,360 (GRCm39) |
N4040K |
probably damaging |
Het |
| Podnl1 |
T |
A |
8: 84,855,905 (GRCm39) |
S222T |
probably benign |
Het |
| Ppil4 |
A |
G |
10: 7,675,396 (GRCm39) |
T182A |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,544 (GRCm39) |
K649E |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,786,663 (GRCm39) |
H530Q |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,211,442 (GRCm39) |
M404K |
probably damaging |
Het |
| Rilpl1 |
A |
T |
5: 124,631,900 (GRCm39) |
F149I |
probably damaging |
Het |
| Sema6c |
T |
A |
3: 95,078,527 (GRCm39) |
S543T |
probably benign |
Het |
| Slc2a12 |
T |
G |
10: 22,541,350 (GRCm39) |
S402A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,934,030 (GRCm39) |
I260F |
possibly damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,684 (GRCm39) |
I113T |
possibly damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,614 (GRCm39) |
R741* |
probably null |
Het |
| Ube2o |
G |
T |
11: 116,437,290 (GRCm39) |
D244E |
probably damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,784 (GRCm39) |
M141K |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,760 (GRCm39) |
S137P |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,151 (GRCm39) |
H138Q |
possibly damaging |
Het |
|
| Other mutations in Sh3rf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Sh3rf3
|
APN |
10 |
58,885,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01898:Sh3rf3
|
APN |
10 |
58,885,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02108:Sh3rf3
|
APN |
10 |
58,971,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Sh3rf3
|
APN |
10 |
58,922,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
exasperated
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
strained
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Sh3rf3
|
UTSW |
10 |
58,819,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1615:Sh3rf3
|
UTSW |
10 |
58,966,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1797:Sh3rf3
|
UTSW |
10 |
58,922,489 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Sh3rf3
|
UTSW |
10 |
58,919,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Sh3rf3
|
UTSW |
10 |
58,939,989 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Sh3rf3
|
UTSW |
10 |
58,649,809 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2353:Sh3rf3
|
UTSW |
10 |
58,842,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Sh3rf3
|
UTSW |
10 |
58,922,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3769:Sh3rf3
|
UTSW |
10 |
58,820,013 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4059:Sh3rf3
|
UTSW |
10 |
58,919,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Sh3rf3
|
UTSW |
10 |
58,919,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Sh3rf3
|
UTSW |
10 |
58,649,526 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4832:Sh3rf3
|
UTSW |
10 |
58,649,905 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4853:Sh3rf3
|
UTSW |
10 |
58,919,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Sh3rf3
|
UTSW |
10 |
58,649,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4917:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Sh3rf3
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5125:Sh3rf3
|
UTSW |
10 |
58,967,012 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5640:Sh3rf3
|
UTSW |
10 |
58,649,769 (GRCm39) |
missense |
probably benign |
|
|
R5716:Sh3rf3
|
UTSW |
10 |
58,967,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5756:Sh3rf3
|
UTSW |
10 |
58,940,204 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5848:Sh3rf3
|
UTSW |
10 |
58,819,975 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5908:Sh3rf3
|
UTSW |
10 |
58,885,270 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5930:Sh3rf3
|
UTSW |
10 |
58,966,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6392:Sh3rf3
|
UTSW |
10 |
58,842,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6450:Sh3rf3
|
UTSW |
10 |
58,819,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Sh3rf3
|
UTSW |
10 |
58,819,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Sh3rf3
|
UTSW |
10 |
58,919,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Sh3rf3
|
UTSW |
10 |
58,922,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7292:Sh3rf3
|
UTSW |
10 |
58,907,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Sh3rf3
|
UTSW |
10 |
58,922,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7941:Sh3rf3
|
UTSW |
10 |
58,842,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7959:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Sh3rf3
|
UTSW |
10 |
58,885,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8142:Sh3rf3
|
UTSW |
10 |
58,885,205 (GRCm39) |
nonsense |
probably null |
|
|
R8241:Sh3rf3
|
UTSW |
10 |
58,940,242 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8406:Sh3rf3
|
UTSW |
10 |
58,919,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8727:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9341:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF020:Sh3rf3
|
UTSW |
10 |
58,649,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCATCTGACTCTGTGGCTTGTCC -3'
(R):5'- AAGACTGCCTGAGTCCTACCCTTG -3'
Sequencing Primer
(F):5'- GTGGCTTGTCCCCTTAGAC -3'
(R):5'- TCATTCACCAGGGCGGATTAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation