Incidental Mutation 'IGL01998:Strbp'
| ID |
182948 |
| 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 # |
IGL01998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37515297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 243
(L243P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000183690]
|
| AlphaFold |
Q91WM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028279
AA Change: L243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: L243P
| 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: L243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: L243P
| 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: ENSMUST00000183690
AA Change: L243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: L243P
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
| Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,722 (GRCm39) |
E256G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,435,622 (GRCm39) |
L233Q |
probably damaging |
Het |
| Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
| Drc7 |
T |
A |
8: 95,785,821 (GRCm39) |
C226S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
| Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
| Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,353 (GRCm39) |
I708N |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
| Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
| Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
| Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
| Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
| Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
| Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
| Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
| Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,431 (GRCm39) |
V239I |
probably benign |
Het |
| Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
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 |
|
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 |
2014-05-07 |
Incidental Mutation