Incidental Mutation 'R6036:Sh3rf3'
| ID |
479221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
128.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58813359-59138916 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58813984 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 137
(G137D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135526]
[ENSMUST00000153031]
|
| AlphaFold |
Q8C120 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135526
AA Change: G137D
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: G137D
| 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: G137D
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: G137D
| 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: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
T |
C |
11: 95,832,858 (GRCm38) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,443,228 (GRCm38) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 81,093,257 (GRCm38) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,982,265 (GRCm38) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 44,098,831 (GRCm38) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,913,008 (GRCm38) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,401,335 (GRCm38) |
M67L |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,395,282 (GRCm38) |
T417A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,239,420 (GRCm38) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,856,005 (GRCm38) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,014,322 (GRCm38) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,184,996 (GRCm38) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,843,593 (GRCm38) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm38) |
I221L |
probably benign |
Het |
| Hc |
T |
C |
2: 35,039,684 (GRCm38) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,068,053 (GRCm38) |
T48A |
probably benign |
Het |
| Hist1h2bl |
A |
T |
13: 21,715,978 (GRCm38) |
S56T |
probably damaging |
Het |
| Hp |
A |
G |
8: 109,576,774 (GRCm38) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,558,073 (GRCm38) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,397,125 (GRCm38) |
M262L |
probably benign |
Het |
| Krt83 |
A |
C |
15: 101,487,531 (GRCm38) |
I320S |
possibly damaging |
Het |
| Megf10 |
A |
G |
18: 57,242,727 (GRCm38) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,128,411 (GRCm38) |
T451A |
probably benign |
Het |
| Olfr1277 |
C |
T |
2: 111,269,612 (GRCm38) |
G252R |
probably damaging |
Het |
| Olfr1288 |
T |
C |
2: 111,478,988 (GRCm38) |
L68P |
probably damaging |
Het |
| Olfr559 |
T |
A |
7: 102,724,485 (GRCm38) |
I2F |
probably benign |
Het |
| Olfr701 |
A |
T |
7: 106,818,460 (GRCm38) |
I126F |
probably damaging |
Het |
| Olfr930 |
A |
G |
9: 38,930,920 (GRCm38) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,305,209 (GRCm38) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,114,948 (GRCm38) |
Q494* |
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm38) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 78,435,474 (GRCm38) |
S167T |
probably damaging |
Het |
| Scd4 |
G |
A |
19: 44,344,792 (GRCm38) |
D319N |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 22,028,558 (GRCm38) |
R279* |
probably null |
Het |
| Simc1 |
C |
T |
13: 54,524,621 (GRCm38) |
P261S |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,673,570 (GRCm38) |
D151V |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,738,437 (GRCm38) |
|
probably null |
Het |
| Stard9 |
C |
T |
2: 120,700,075 (GRCm38) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,655,444 (GRCm38) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 145,268,869 (GRCm38) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,711,366 (GRCm38) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 78,325,576 (GRCm38) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,940,162 (GRCm38) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,086 (GRCm38) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,633,903 (GRCm38) |
Q87R |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 33,146,990 (GRCm38) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,963,568 (GRCm38) |
Y521H |
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 |
|
R3769:Sh3rf3
|
UTSW |
10 |
58,984,191 (GRCm38) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation