Incidental Mutation 'R5214:Sh3rf1'
| ID |
403346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
042787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R5214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61825765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 587
(M587L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034060
AA Change: M587L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: M587L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
52 |
5.3e-9 |
SMART |
|
low complexity region
|
83 |
90 |
N/A |
INTRINSIC |
|
SH3
|
137 |
192 |
1.67e-18 |
SMART |
|
SH3
|
199 |
258 |
4.84e-15 |
SMART |
|
low complexity region
|
366 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
|
SH3
|
454 |
511 |
7.92e-20 |
SMART |
|
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
734 |
N/A |
INTRINSIC |
|
SH3
|
835 |
891 |
1.47e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209611
AA Change: M587L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2693 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (77/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
A |
G |
3: 116,861,424 (GRCm39) |
|
noncoding transcript |
Het |
| 4930449A18Rik |
A |
T |
3: 59,733,305 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
T |
C |
17: 57,193,493 (GRCm39) |
V613A |
probably benign |
Het |
| Adgrl1 |
G |
A |
8: 84,642,202 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,540,399 (GRCm39) |
D228G |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,431,319 (GRCm39) |
I822V |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,402,327 (GRCm39) |
A1382S |
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,577,110 (GRCm39) |
I96F |
possibly damaging |
Het |
| Calhm5 |
A |
G |
10: 33,968,487 (GRCm39) |
S189P |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,606,740 (GRCm39) |
R335C |
probably damaging |
Het |
| Ccdc113 |
T |
C |
8: 96,272,601 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,225 (GRCm39) |
S125T |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,504 (GRCm39) |
C917R |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,389 (GRCm39) |
D263G |
probably benign |
Het |
| Cntnap3 |
G |
T |
13: 64,909,824 (GRCm39) |
H760Q |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,393,637 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,754,465 (GRCm39) |
I485V |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,326,364 (GRCm39) |
D909G |
unknown |
Het |
| Eps8 |
A |
T |
6: 137,504,490 (GRCm39) |
M81K |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,452 (GRCm39) |
S3491P |
probably damaging |
Het |
| Gm17669 |
C |
T |
18: 67,695,479 (GRCm39) |
T8I |
possibly damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,792 (GRCm39) |
T609K |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,880 (GRCm39) |
N32S |
probably damaging |
Het |
| Herpud1 |
G |
T |
8: 95,117,479 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,674,134 (GRCm39) |
L632Q |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,205,486 (GRCm39) |
L527S |
probably damaging |
Het |
| Klk1b11 |
C |
A |
7: 43,647,266 (GRCm39) |
H67N |
probably benign |
Het |
| Ldhb |
T |
A |
6: 142,441,321 (GRCm39) |
I190F |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,690,397 (GRCm39) |
C168* |
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,651 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Mageb3 |
T |
C |
2: 121,785,319 (GRCm39) |
M128V |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,208 (GRCm39) |
T90A |
probably benign |
Het |
| Msantd5 |
C |
A |
11: 51,125,675 (GRCm39) |
H199Q |
possibly damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,831,239 (GRCm39) |
T24I |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,846,267 (GRCm39) |
L878P |
probably damaging |
Het |
| Or11g27 |
T |
G |
14: 50,771,804 (GRCm39) |
*312E |
probably null |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,478 (GRCm39) |
I323N |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,921 (GRCm39) |
I2537T |
probably damaging |
Het |
| Pnpo |
C |
A |
11: 96,833,295 (GRCm39) |
E68D |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,646,176 (GRCm39) |
R175Q |
probably benign |
Het |
| Prnp |
C |
T |
2: 131,778,924 (GRCm39) |
T192I |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,205,229 (GRCm39) |
I2148T |
possibly damaging |
Het |
| Raf1 |
G |
T |
6: 115,614,583 (GRCm39) |
F99L |
possibly damaging |
Het |
| Rbks |
A |
G |
5: 31,807,736 (GRCm39) |
|
probably benign |
Het |
| Rlf |
T |
C |
4: 121,007,897 (GRCm39) |
D361G |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,001 (GRCm39) |
D608Y |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,652,662 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,843,869 (GRCm39) |
S473T |
probably damaging |
Het |
| Syt15 |
A |
G |
14: 33,943,703 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,007,183 (GRCm39) |
L236P |
probably benign |
Het |
| Tbx2 |
G |
T |
11: 85,729,263 (GRCm39) |
A549S |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,659,461 (GRCm39) |
C157* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,256,964 (GRCm39) |
V1571I |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,224,818 (GRCm39) |
K65R |
probably benign |
Het |
| Tmc5 |
C |
T |
7: 118,247,155 (GRCm39) |
T553M |
probably damaging |
Het |
| Tmem200c |
C |
T |
17: 69,148,122 (GRCm39) |
A235V |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tmf1 |
G |
C |
6: 97,144,253 (GRCm39) |
A701G |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,300 (GRCm39) |
G26S |
unknown |
Het |
| Treh |
T |
C |
9: 44,594,173 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,325,489 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,713 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,860,166 (GRCm39) |
I299V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,701 (GRCm39) |
K2953T |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,395 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
G |
A |
4: 128,482,109 (GRCm39) |
R518C |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,975,463 (GRCm39) |
I296T |
possibly damaging |
Het |
|
| Other mutations in Sh3rf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Sh3rf1
|
APN |
8 |
61,782,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01071:Sh3rf1
|
APN |
8 |
61,678,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Sh3rf1
|
APN |
8 |
61,782,365 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01587:Sh3rf1
|
APN |
8 |
61,679,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02412:Sh3rf1
|
APN |
8 |
61,825,723 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02649:Sh3rf1
|
APN |
8 |
61,816,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
limpid
|
UTSW |
8 |
61,782,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mac
|
UTSW |
8 |
61,814,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
Moki
|
UTSW |
8 |
61,837,860 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02835:Sh3rf1
|
UTSW |
8 |
61,679,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Sh3rf1
|
UTSW |
8 |
61,679,327 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0016:Sh3rf1
|
UTSW |
8 |
61,827,172 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0040:Sh3rf1
|
UTSW |
8 |
61,782,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0040:Sh3rf1
|
UTSW |
8 |
61,782,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0278:Sh3rf1
|
UTSW |
8 |
61,827,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Sh3rf1
|
UTSW |
8 |
61,846,696 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Sh3rf1
|
UTSW |
8 |
61,825,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0790:Sh3rf1
|
UTSW |
8 |
61,782,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1028:Sh3rf1
|
UTSW |
8 |
61,846,821 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1569:Sh3rf1
|
UTSW |
8 |
61,837,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Sh3rf1
|
UTSW |
8 |
61,814,779 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1799:Sh3rf1
|
UTSW |
8 |
61,825,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1960:Sh3rf1
|
UTSW |
8 |
61,837,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Sh3rf1
|
UTSW |
8 |
61,816,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2184:Sh3rf1
|
UTSW |
8 |
61,825,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2330:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2331:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2332:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2967:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2994:Sh3rf1
|
UTSW |
8 |
61,825,609 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3159:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3195:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3196:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3724:Sh3rf1
|
UTSW |
8 |
61,825,756 (GRCm39) |
missense |
probably benign |
|
|
R4692:Sh3rf1
|
UTSW |
8 |
61,806,888 (GRCm39) |
splice site |
probably null |
|
|
R4712:Sh3rf1
|
UTSW |
8 |
61,814,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5409:Sh3rf1
|
UTSW |
8 |
61,827,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5590:Sh3rf1
|
UTSW |
8 |
61,814,766 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5651:Sh3rf1
|
UTSW |
8 |
61,816,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Sh3rf1
|
UTSW |
8 |
61,814,766 (GRCm39) |
nonsense |
probably null |
|
|
R7126:Sh3rf1
|
UTSW |
8 |
61,802,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7154:Sh3rf1
|
UTSW |
8 |
61,825,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7625:Sh3rf1
|
UTSW |
8 |
61,825,756 (GRCm39) |
missense |
probably benign |
|
|
R7747:Sh3rf1
|
UTSW |
8 |
61,806,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8217:Sh3rf1
|
UTSW |
8 |
61,782,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8705:Sh3rf1
|
UTSW |
8 |
61,802,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Sh3rf1
|
UTSW |
8 |
61,783,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Sh3rf1
|
UTSW |
8 |
61,825,687 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8969:Sh3rf1
|
UTSW |
8 |
61,837,860 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9015:Sh3rf1
|
UTSW |
8 |
61,827,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Sh3rf1
|
UTSW |
8 |
61,802,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9089:Sh3rf1
|
UTSW |
8 |
61,825,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9188:Sh3rf1
|
UTSW |
8 |
61,814,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9259:Sh3rf1
|
UTSW |
8 |
61,806,838 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9568:Sh3rf1
|
UTSW |
8 |
61,825,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9688:Sh3rf1
|
UTSW |
8 |
61,679,348 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0066:Sh3rf1
|
UTSW |
8 |
61,679,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTCCCAAGCTAAAGTC -3'
(R):5'- ACTGCTGGCCATATGGTTTGC -3'
Sequencing Primer
(F):5'- AGCTAAAGTCTCTATGTCTACTGCGG -3'
(R):5'- CTGGCCATATGGTTTGCTAGTTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation