Incidental Mutation 'R9089:Sh3rf1'
| ID |
690828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
068907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R9089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61825613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 536
(M536T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034060
AA Change: M536T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: M536T
| 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 benign
Transcript: ENSMUST00000209611
AA Change: M536T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,951 (GRCm39) |
R118* |
probably null |
Het |
| Acadsb |
T |
C |
7: 131,027,504 (GRCm39) |
V68A |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,432 (GRCm39) |
R137G |
probably benign |
Het |
| Adgrl3 |
C |
A |
5: 81,808,291 (GRCm39) |
N622K |
possibly damaging |
Het |
| Ager |
C |
A |
17: 34,819,579 (GRCm39) |
P366T |
probably benign |
Het |
| Barx2 |
C |
A |
9: 31,765,443 (GRCm39) |
W184L |
probably damaging |
Het |
| Bckdha |
A |
C |
7: 25,341,144 (GRCm39) |
N72K |
probably benign |
Het |
| Blm |
A |
T |
7: 80,162,867 (GRCm39) |
D161E |
probably damaging |
Het |
| Ccdc121rt2 |
A |
T |
5: 112,598,757 (GRCm39) |
R435W |
probably damaging |
Het |
| Cd96 |
G |
T |
16: 45,870,068 (GRCm39) |
T467N |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,978,444 (GRCm39) |
S265T |
unknown |
Het |
| Col6a5 |
A |
C |
9: 105,766,142 (GRCm39) |
I1926S |
probably damaging |
Het |
| Csgalnact2 |
A |
T |
6: 118,097,983 (GRCm39) |
V361D |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,217,807 (GRCm39) |
M140K |
|
Het |
| Ddx41 |
A |
T |
13: 55,683,424 (GRCm39) |
S128T |
probably benign |
Het |
| Deaf1 |
A |
T |
7: 140,877,465 (GRCm39) |
V554D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,293 (GRCm39) |
S1537N |
probably benign |
Het |
| Dmwd |
T |
C |
7: 18,811,980 (GRCm39) |
S145P |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,759,971 (GRCm39) |
S125P |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,773,952 (GRCm39) |
D325G |
probably damaging |
Het |
| Gm43518 |
T |
C |
5: 124,072,329 (GRCm39) |
|
probably null |
Het |
| Got1l1 |
A |
T |
8: 27,690,889 (GRCm39) |
V53E |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,881,433 (GRCm39) |
C350S |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,643,666 (GRCm39) |
F398I |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,678,662 (GRCm39) |
N943S |
probably damaging |
Het |
| Itpa |
T |
A |
2: 130,509,857 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
A |
T |
2: 90,737,909 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,535,506 (GRCm39) |
F594L |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,524,684 (GRCm39) |
V446I |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,620,668 (GRCm39) |
I253V |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,489,620 (GRCm39) |
M135K |
probably damaging |
Het |
| Lgi1 |
T |
C |
19: 38,294,095 (GRCm39) |
I289T |
possibly damaging |
Het |
| Lhx2 |
A |
G |
2: 38,250,045 (GRCm39) |
N288S |
probably damaging |
Het |
| Lrp6 |
G |
C |
6: 134,488,169 (GRCm39) |
A309G |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,452,098 (GRCm39) |
N329K |
probably benign |
Het |
| Med15 |
G |
A |
16: 17,473,421 (GRCm39) |
P476L |
unknown |
Het |
| Muc16 |
A |
T |
9: 18,555,846 (GRCm39) |
N3482K |
unknown |
Het |
| Nemf |
A |
C |
12: 69,400,628 (GRCm39) |
V149G |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,370,521 (GRCm39) |
S706G |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,645,673 (GRCm39) |
V1227A |
possibly damaging |
Het |
| Or1e31 |
A |
G |
11: 73,690,052 (GRCm39) |
F177S |
probably damaging |
Het |
| Or2a52 |
A |
T |
6: 43,144,917 (GRCm39) |
R308S |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,488 (GRCm39) |
L46P |
probably damaging |
Het |
| Parp2 |
A |
G |
14: 51,052,327 (GRCm39) |
T102A |
probably damaging |
Het |
| Pcdhgc3 |
T |
C |
18: 37,941,264 (GRCm39) |
V555A |
possibly damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,351 (GRCm39) |
L1725R |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,130,198 (GRCm39) |
D2704E |
probably benign |
Het |
| Sart3 |
C |
A |
5: 113,891,756 (GRCm39) |
E405D |
possibly damaging |
Het |
| Scin |
A |
T |
12: 40,131,703 (GRCm39) |
L277* |
probably null |
Het |
| Sec62 |
T |
A |
3: 30,868,383 (GRCm39) |
V204E |
probably benign |
Het |
| Serpina3a |
T |
C |
12: 104,085,956 (GRCm39) |
I137T |
possibly damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,457,953 (GRCm39) |
H532R |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,341 (GRCm39) |
F189L |
probably benign |
Het |
| Synm |
T |
C |
7: 67,408,766 (GRCm39) |
D204G |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,147,215 (GRCm39) |
H827Q |
possibly damaging |
Het |
| Tnfrsf25 |
T |
A |
4: 152,201,929 (GRCm39) |
C135* |
probably null |
Het |
| Unc13b |
T |
G |
4: 43,095,847 (GRCm39) |
I85S |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,487,374 (GRCm39) |
Y3047* |
probably null |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,453 (GRCm39) |
S62P |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,536,884 (GRCm39) |
V285A |
probably benign |
Het |
| Vwa5b1 |
T |
A |
4: 138,296,742 (GRCm39) |
D1095V |
probably benign |
Het |
| Zdhhc21 |
T |
A |
4: 82,725,292 (GRCm39) |
D208V |
probably damaging |
Het |
| Zfp422 |
A |
C |
6: 116,604,086 (GRCm39) |
|
probably benign |
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 |
|
R5214:Sh3rf1
|
UTSW |
8 |
61,825,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- GGCCATCATTTCTTTGAATGTGC -3'
(R):5'- GGCCTGATTGACTGTCATCTG -3'
Sequencing Primer
(F):5'- CTTTGAATGTGCTGTTCTTGAAGTC -3'
(R):5'- GACTGTCATCTGCCCAGACATG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation