Incidental Mutation 'IGL01376:Strbp'
ID |
78729 |
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 # |
IGL01376
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37535663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 15
(M15T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000145808]
[ENSMUST00000155237]
[ENSMUST00000183690]
|
AlphaFold |
Q91WM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028279
AA Change: M15T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028279 Gene: ENSMUSG00000026915 AA Change: M15T
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 damaging
Transcript: ENSMUST00000072186
AA Change: M15T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072047 Gene: ENSMUSG00000026915 AA Change: M15T
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: ENSMUST00000135488
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144206
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145808
AA Change: M15T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120163 Gene: ENSMUSG00000026915 AA Change: M15T
Domain | Start | End | E-Value | Type |
Pfam:DZF
|
87 |
167 |
1.4e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155237
AA Change: M15T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122263 Gene: ENSMUSG00000026915 AA Change: M15T
Domain | Start | End | E-Value | Type |
Pfam:DZF
|
87 |
128 |
2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183690
AA Change: M15T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915 AA Change: M15T
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
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 |
|
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 |
2013-11-05 |