Incidental Mutation 'IGL02292:Shcbp1l'
| ID |
290095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shcbp1l
|
| Ensembl Gene |
ENSMUSG00000042708 |
| Gene Name |
Shc SH2-domain binding protein 1-like |
| Synonyms |
1700012A16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL02292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
153300908-153328320 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 153311891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042373]
[ENSMUST00000136614]
|
| AlphaFold |
Q3TTP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042373
|
| SMART Domains |
Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
CASH
|
362 |
522 |
2.85e-8 |
SMART |
|
PbH1
|
479 |
500 |
2.3e3 |
SMART |
|
PbH1
|
501 |
523 |
5.74e1 |
SMART |
|
PbH1
|
524 |
557 |
2.3e3 |
SMART |
|
PbH1
|
560 |
582 |
1.56e0 |
SMART |
|
low complexity region
|
603 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136614
|
| SMART Domains |
Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with reduced sperm, increased male germ cell apoptosis and spindle instability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,263,982 (GRCm39) |
M51V |
probably benign |
Het |
| Abcb5 |
C |
T |
12: 118,881,932 (GRCm39) |
G599D |
probably damaging |
Het |
| Aim2 |
T |
A |
1: 173,289,840 (GRCm39) |
I261N |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,727,653 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,349,582 (GRCm39) |
H84Y |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,400,718 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,138,258 (GRCm39) |
P139S |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,438,091 (GRCm39) |
Y111C |
probably benign |
Het |
| Cd226 |
G |
A |
18: 89,225,216 (GRCm39) |
V38I |
possibly damaging |
Het |
| Cdh3 |
A |
G |
8: 107,271,833 (GRCm39) |
Y582C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,261,884 (GRCm39) |
D871G |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,423,698 (GRCm39) |
N133I |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,977 (GRCm39) |
I428V |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flrt3 |
G |
A |
2: 140,502,045 (GRCm39) |
P528S |
probably damaging |
Het |
| Gm9476 |
A |
C |
10: 100,143,046 (GRCm39) |
|
noncoding transcript |
Het |
| Itgae |
T |
C |
11: 73,009,361 (GRCm39) |
I515T |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,655,312 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,454,045 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Mfsd6l |
A |
T |
11: 68,448,576 (GRCm39) |
I476L |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,959,157 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,729 (GRCm39) |
L314P |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,819,131 (GRCm39) |
R205S |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,692,196 (GRCm39) |
I121N |
probably damaging |
Het |
| Omt2a |
G |
A |
9: 78,220,621 (GRCm39) |
R20C |
possibly damaging |
Het |
| Or4c11b |
G |
A |
2: 88,625,631 (GRCm39) |
V302I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Rimkla |
A |
T |
4: 119,325,549 (GRCm39) |
C287S |
probably damaging |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,598 (GRCm39) |
K111I |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,802 (GRCm39) |
E322G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,711,543 (GRCm39) |
|
probably benign |
Het |
| Zbtb20 |
T |
A |
16: 43,431,011 (GRCm39) |
Y507* |
probably null |
Het |
|
| Other mutations in Shcbp1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Shcbp1l
|
APN |
1 |
153,311,553 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01067:Shcbp1l
|
APN |
1 |
153,311,770 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02588:Shcbp1l
|
APN |
1 |
153,304,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03220:Shcbp1l
|
APN |
1 |
153,308,911 (GRCm39) |
splice site |
probably benign |
|
|
R0467:Shcbp1l
|
UTSW |
1 |
153,308,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Shcbp1l
|
UTSW |
1 |
153,304,314 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1192:Shcbp1l
|
UTSW |
1 |
153,301,253 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2878:Shcbp1l
|
UTSW |
1 |
153,313,264 (GRCm39) |
splice site |
probably benign |
|
|
R2910:Shcbp1l
|
UTSW |
1 |
153,304,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2911:Shcbp1l
|
UTSW |
1 |
153,304,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3080:Shcbp1l
|
UTSW |
1 |
153,311,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3854:Shcbp1l
|
UTSW |
1 |
153,328,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7373:Shcbp1l
|
UTSW |
1 |
153,300,986 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7793:Shcbp1l
|
UTSW |
1 |
153,323,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9415:Shcbp1l
|
UTSW |
1 |
153,321,627 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9708:Shcbp1l
|
UTSW |
1 |
153,328,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Shcbp1l
|
UTSW |
1 |
153,328,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Shcbp1l
|
UTSW |
1 |
153,328,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation