Incidental Mutation 'IGL00087:Strbp'
ID |
1898 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Strbp
|
Ensembl Gene |
ENSMUSG00000026915 |
Gene Name |
spermatid perinuclear RNA binding protein |
Synonyms |
Spnr, C230082I21Rik, 6430510M02Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
IGL00087
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 37476516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000183690]
|
AlphaFold |
Q91WM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028279
|
SMART Domains |
Protein: ENSMUSP00000028279 Gene: ENSMUSG00000026915
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072186
|
SMART Domains |
Protein: ENSMUSP00000072047 Gene: ENSMUSG00000026915
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204569
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
C |
A |
3: 121,473,282 (GRCm39) |
|
probably benign |
Het |
Actr2 |
C |
A |
11: 20,044,370 (GRCm39) |
V79L |
probably benign |
Het |
Ankrd36 |
A |
C |
11: 5,570,131 (GRCm39) |
Y533S |
probably benign |
Het |
Btnl1 |
A |
T |
17: 34,600,091 (GRCm39) |
D198V |
probably damaging |
Het |
Carmil2 |
T |
A |
8: 106,418,038 (GRCm39) |
I684N |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,062,633 (GRCm39) |
V257D |
probably damaging |
Het |
Ctsj |
T |
G |
13: 61,149,232 (GRCm39) |
S271R |
possibly damaging |
Het |
Cul9 |
T |
A |
17: 46,836,635 (GRCm39) |
Q1130L |
probably damaging |
Het |
Daam1 |
G |
T |
12: 71,988,993 (GRCm39) |
S131I |
unknown |
Het |
Dab1 |
G |
A |
4: 104,536,007 (GRCm39) |
V139M |
probably damaging |
Het |
Dab1 |
A |
T |
4: 104,535,950 (GRCm39) |
I120F |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,383,498 (GRCm39) |
V1142A |
possibly damaging |
Het |
Dsg1b |
C |
T |
18: 20,529,533 (GRCm39) |
T326I |
probably damaging |
Het |
Eif3k |
A |
C |
7: 28,674,101 (GRCm39) |
|
probably benign |
Het |
Fam76b |
T |
C |
9: 13,748,180 (GRCm39) |
V3A |
possibly damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,712 (GRCm39) |
V167A |
probably benign |
Het |
Gfap |
T |
A |
11: 102,779,544 (GRCm39) |
I418F |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,779,989 (GRCm39) |
V1143A |
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,298,510 (GRCm39) |
I317T |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,945,022 (GRCm39) |
L581Q |
possibly damaging |
Het |
Kcnn2 |
A |
C |
18: 45,725,303 (GRCm39) |
R266S |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,928,222 (GRCm39) |
S1240T |
probably benign |
Het |
Lmnb2 |
T |
C |
10: 80,739,871 (GRCm39) |
D490G |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
Pax9 |
A |
G |
12: 56,746,860 (GRCm39) |
N232S |
probably benign |
Het |
Pdcd6ip |
A |
G |
9: 113,526,586 (GRCm39) |
S108P |
possibly damaging |
Het |
Pitpnc1 |
T |
C |
11: 107,103,469 (GRCm39) |
E210G |
possibly damaging |
Het |
Prdm10 |
T |
C |
9: 31,272,108 (GRCm39) |
|
probably benign |
Het |
Prl4a1 |
G |
A |
13: 28,205,443 (GRCm39) |
G136E |
probably damaging |
Het |
Pstpip2 |
A |
G |
18: 77,961,994 (GRCm39) |
S255G |
probably benign |
Het |
Rimbp3 |
T |
G |
16: 17,027,607 (GRCm39) |
S344A |
probably benign |
Het |
Rint1 |
A |
G |
5: 23,999,429 (GRCm39) |
T73A |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,446,039 (GRCm39) |
V291A |
possibly damaging |
Het |
Rrm1 |
T |
A |
7: 102,103,714 (GRCm39) |
L221* |
probably null |
Het |
Scn11a |
A |
G |
9: 119,599,572 (GRCm39) |
L1114P |
probably benign |
Het |
Slc44a4 |
A |
G |
17: 35,149,216 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
C |
9: 41,885,390 (GRCm39) |
N2070K |
probably damaging |
Het |
Spaca7 |
C |
T |
8: 12,630,941 (GRCm39) |
|
probably benign |
Het |
Speer1k |
C |
T |
5: 10,997,805 (GRCm39) |
|
probably benign |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Srsf6 |
G |
T |
2: 162,773,627 (GRCm39) |
V13F |
probably damaging |
Het |
Stab1 |
G |
T |
14: 30,883,314 (GRCm39) |
T336N |
probably benign |
Het |
Tbc1d4 |
A |
G |
14: 101,845,548 (GRCm39) |
F117L |
probably damaging |
Het |
Tcf20 |
A |
G |
15: 82,739,096 (GRCm39) |
V785A |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,327,031 (GRCm39) |
K580E |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,192,633 (GRCm39) |
E4225D |
possibly damaging |
Het |
Uck1 |
A |
T |
2: 32,149,681 (GRCm39) |
V66D |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,830,130 (GRCm39) |
F7S |
probably benign |
Het |
Zan |
C |
T |
5: 137,386,082 (GRCm39) |
|
probably null |
Het |
Zfp819 |
T |
A |
7: 43,261,403 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Strbp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00656:Strbp
|
APN |
2 |
37,493,150 (GRCm39) |
splice site |
probably benign |
|
IGL01376:Strbp
|
APN |
2 |
37,535,663 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Strbp
|
APN |
2 |
37,515,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02347:Strbp
|
APN |
2 |
37,535,660 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02453:Strbp
|
APN |
2 |
37,476,520 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02804:Strbp
|
APN |
2 |
37,514,498 (GRCm39) |
splice site |
probably benign |
|
IGL03102:Strbp
|
APN |
2 |
37,476,515 (GRCm39) |
splice site |
probably benign |
|
PIT4418001:Strbp
|
UTSW |
2 |
37,535,504 (GRCm39) |
missense |
probably benign |
|
R0382:Strbp
|
UTSW |
2 |
37,490,838 (GRCm39) |
missense |
probably benign |
0.00 |
R0575:Strbp
|
UTSW |
2 |
37,530,885 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0610:Strbp
|
UTSW |
2 |
37,474,089 (GRCm39) |
missense |
probably damaging |
0.97 |
R0825:Strbp
|
UTSW |
2 |
37,525,539 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Strbp
|
UTSW |
2 |
37,530,921 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1831:Strbp
|
UTSW |
2 |
37,515,277 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3416:Strbp
|
UTSW |
2 |
37,480,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3417:Strbp
|
UTSW |
2 |
37,480,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4673:Strbp
|
UTSW |
2 |
37,535,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Strbp
|
UTSW |
2 |
37,517,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R5099:Strbp
|
UTSW |
2 |
37,493,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5269:Strbp
|
UTSW |
2 |
37,517,455 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5378:Strbp
|
UTSW |
2 |
37,490,818 (GRCm39) |
missense |
probably benign |
0.03 |
R5378:Strbp
|
UTSW |
2 |
37,489,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5454:Strbp
|
UTSW |
2 |
37,535,495 (GRCm39) |
missense |
probably benign |
0.00 |
R5905:Strbp
|
UTSW |
2 |
37,515,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Strbp
|
UTSW |
2 |
37,515,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Strbp
|
UTSW |
2 |
37,493,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Strbp
|
UTSW |
2 |
37,493,975 (GRCm39) |
missense |
probably null |
0.01 |
R6800:Strbp
|
UTSW |
2 |
37,515,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R7032:Strbp
|
UTSW |
2 |
37,493,125 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7139:Strbp
|
UTSW |
2 |
37,514,514 (GRCm39) |
missense |
probably benign |
0.00 |
R7261:Strbp
|
UTSW |
2 |
37,531,149 (GRCm39) |
splice site |
probably null |
|
R7481:Strbp
|
UTSW |
2 |
37,490,766 (GRCm39) |
missense |
probably benign |
0.02 |
R7718:Strbp
|
UTSW |
2 |
37,515,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7959:Strbp
|
UTSW |
2 |
37,530,906 (GRCm39) |
missense |
probably benign |
0.00 |
R8921:Strbp
|
UTSW |
2 |
37,514,503 (GRCm39) |
critical splice donor site |
probably null |
|
R8936:Strbp
|
UTSW |
2 |
37,493,949 (GRCm39) |
nonsense |
probably null |
|
R9742:Strbp
|
UTSW |
2 |
37,515,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-07-12 |