Incidental Mutation 'R8142:Sh3rf3'
ID |
632592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf3
|
Ensembl Gene |
ENSMUSG00000037990 |
Gene Name |
SH3 domain containing ring finger 3 |
Synonyms |
Sh3md4, 4831416G18Rik |
MMRRC Submission |
067570-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R8142 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 58885205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 363
(R363*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135526]
[ENSMUST00000153031]
|
AlphaFold |
Q8C120 |
Predicted Effect |
probably null
Transcript: ENSMUST00000135526
AA Change: R363*
|
SMART Domains |
Protein: ENSMUSP00000114368 Gene: ENSMUSG00000037990 AA Change: R363*
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 null
Transcript: ENSMUST00000153031
AA Change: R363*
|
SMART Domains |
Protein: ENSMUSP00000120938 Gene: ENSMUSG00000037990 AA Change: R363*
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: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
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 |
R1056:Sh3rf3
|
UTSW |
10 |
58,842,904 (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 |
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'- CCTAGCTCAATGACTCTGCC -3'
(R):5'- CTATGGGAATCATGGACACAGG -3'
Sequencing Primer
(F):5'- TCTGCCAAGCAACTCATTGAGATG -3'
(R):5'- CGGCTCTGGGAATTACCTG -3'
|
Posted On |
2020-06-30 |