Incidental Mutation 'IGL02453:Strbp'
| ID |
293746 |
| 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: 0.585)
|
| Stock # |
IGL02453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 37476520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000183690]
|
| AlphaFold |
Q91WM1 |
| Predicted Effect |
probably null
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 null
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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,075 (GRCm39) |
|
probably null |
Het |
| Actr1b |
A |
G |
1: 36,741,588 (GRCm39) |
S51P |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,092,502 (GRCm39) |
Y703C |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,218,438 (GRCm39) |
L54F |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,913 (GRCm39) |
K546E |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,835,634 (GRCm39) |
V240A |
probably benign |
Het |
| Dmtf1l |
G |
T |
X: 125,722,223 (GRCm39) |
S294* |
probably null |
Het |
| Dmtf1l |
T |
C |
X: 125,722,686 (GRCm39) |
I140V |
possibly damaging |
Het |
| Hadha |
T |
C |
5: 30,349,304 (GRCm39) |
|
probably benign |
Het |
| Imp3 |
G |
T |
9: 56,845,293 (GRCm39) |
R168L |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,995,209 (GRCm39) |
V151E |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,215,455 (GRCm39) |
Y125* |
probably null |
Het |
| Pacs1 |
A |
G |
19: 5,185,033 (GRCm39) |
W931R |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,826,813 (GRCm39) |
M141L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,512,073 (GRCm39) |
|
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,396,432 (GRCm39) |
M173K |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,634 (GRCm39) |
V431M |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,530,108 (GRCm39) |
T100S |
probably benign |
Het |
| Wdr45 |
T |
C |
X: 7,593,520 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Strbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Strbp
|
APN |
2 |
37,476,516 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation