Incidental Mutation 'R1192:Shcbp1l'
| ID |
100856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1l
|
| Ensembl Gene |
ENSMUSG00000042708 |
| Gene Name |
Shc SH2-domain binding protein 1-like |
| Synonyms |
1700012A16Rik |
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
159 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153300908-153328320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153301253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 95
(I95N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042373]
[ENSMUST00000136614]
|
| AlphaFold |
Q3TTP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042373
AA Change: I95N
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708
AA Change: I95N
| 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 |
possibly damaging
Transcript: ENSMUST00000136614
AA Change: I95N
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708
AA Change: I95N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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 |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
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 |
|
IGL02292:Shcbp1l
|
APN |
1 |
153,311,891 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCGATTCCAAGGATCAATGGGC -3'
(R):5'- AGGTGGCATTCTGTACCCCTTGAC -3'
Sequencing Primer
(F):5'- tgccttcatttcccgcc -3'
(R):5'- GACTGATTTTTTCCCCCAAAAGACTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation