Incidental Mutation 'R0575:Strbp'
ID |
56186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strbp
|
Ensembl Gene |
ENSMUSG00000026915 |
Gene Name |
spermatid perinuclear RNA binding protein |
Synonyms |
Spnr, C230082I21Rik, 6430510M02Rik |
MMRRC Submission |
038765-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
R0575 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37530885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 123
(D123V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000145808]
[ENSMUST00000155237]
[ENSMUST00000183690]
|
AlphaFold |
Q91WM1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028279
AA Change: D123V
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028279 Gene: ENSMUSG00000026915 AA Change: D123V
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 |
possibly damaging
Transcript: ENSMUST00000072186
AA Change: D123V
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072047 Gene: ENSMUSG00000026915 AA Change: D123V
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 |
possibly damaging
Transcript: ENSMUST00000145808
AA Change: D123V
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120163 Gene: ENSMUSG00000026915 AA Change: D123V
Domain | Start | End | E-Value | Type |
Pfam:DZF
|
87 |
167 |
1.4e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155237
AA Change: D123V
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122263 Gene: ENSMUSG00000026915 AA Change: D123V
Domain | Start | End | E-Value | Type |
Pfam:DZF
|
87 |
128 |
2e-8 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183690
AA Change: D123V
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915 AA Change: D123V
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 |
|
Meta Mutation Damage Score |
0.1940 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (30/30) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCACAAAGTAATCCTGTGGCCTC -3'
(R):5'- ATTTGTAGGGATCAAGGTGGCCGGAC -3'
Sequencing Primer
(F):5'- aatcctgtggcctcacatc -3'
(R):5'- AAGGTGGCCGGACATTGTG -3'
|
Posted On |
2013-07-11 |