Incidental Mutation 'IGL02347:Strbp'
| ID |
289339 |
| 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 # |
IGL02347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37535660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 16
(V16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000145808]
[ENSMUST00000155237]
[ENSMUST00000183690]
|
| AlphaFold |
Q91WM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028279
AA Change: V16G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: V16G
| 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
AA Change: V16G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: V16G
| 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 benign
Transcript: ENSMUST00000145808
AA Change: V16G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120163
Gene: ENSMUSG00000026915
AA Change: V16G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DZF
|
87 |
167 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155237
AA Change: V16G
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122263
Gene: ENSMUSG00000026915
AA Change: V16G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DZF
|
87 |
128 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
AA Change: V16G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: V16G
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,835 (GRCm39) |
K35* |
probably null |
Het |
| Adad2 |
G |
T |
8: 120,343,408 (GRCm39) |
G546V |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,311,105 (GRCm39) |
K7E |
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Car12 |
T |
A |
9: 66,671,629 (GRCm39) |
V352D |
possibly damaging |
Het |
| Cyp2d11 |
G |
A |
15: 82,274,681 (GRCm39) |
R299C |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,910,487 (GRCm39) |
|
probably null |
Het |
| Eddm13 |
A |
G |
7: 6,272,883 (GRCm39) |
I79M |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,600 (GRCm39) |
W568R |
possibly damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,359 (GRCm39) |
D90G |
probably damaging |
Het |
| Emc3 |
A |
G |
6: 113,497,533 (GRCm39) |
M106T |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,587,757 (GRCm39) |
K514E |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Frg2f1 |
A |
C |
4: 119,387,929 (GRCm39) |
L190R |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,270,023 (GRCm39) |
|
probably null |
Het |
| Glis3 |
A |
G |
19: 28,509,283 (GRCm39) |
F234L |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,530,557 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,505 (GRCm39) |
E113D |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,441,756 (GRCm39) |
T685A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,938,992 (GRCm39) |
M270K |
probably damaging |
Het |
| Msantd4 |
G |
T |
9: 4,384,734 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
T |
8: 40,085,778 (GRCm39) |
T34K |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,332,691 (GRCm39) |
V780M |
probably benign |
Het |
| Nsun6 |
A |
G |
2: 15,034,831 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,912,695 (GRCm39) |
|
probably benign |
Het |
| Nucb2 |
A |
C |
7: 116,135,113 (GRCm39) |
Q340P |
probably benign |
Het |
| Nup50l |
A |
T |
6: 96,142,511 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or2l13b |
A |
G |
16: 19,349,529 (GRCm39) |
L47P |
probably damaging |
Het |
| Or3a1b |
C |
T |
11: 74,012,397 (GRCm39) |
T94I |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,172,277 (GRCm39) |
E357G |
probably benign |
Het |
| Pabpc6 |
C |
T |
17: 9,887,993 (GRCm39) |
R186K |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,653,350 (GRCm39) |
K83R |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,502,526 (GRCm39) |
I82V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,229,471 (GRCm39) |
V27E |
probably benign |
Het |
| Rnaseh1 |
A |
T |
12: 28,707,629 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,729 (GRCm39) |
V89A |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,145 (GRCm39) |
V38I |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,149,780 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,643,520 (GRCm39) |
D953E |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,800,863 (GRCm39) |
M567K |
probably benign |
Het |
| Tedc2 |
A |
C |
17: 24,439,584 (GRCm39) |
V19G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,950,812 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,539,564 (GRCm39) |
V26147E |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,574 (GRCm39) |
S51P |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,067 (GRCm39) |
T488A |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,817,390 (GRCm39) |
Y945C |
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 |
|
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 |
2015-04-16 |
Incidental Mutation