Incidental Mutation 'R1587:Srbd1'
| ID |
177605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srbd1
|
| Ensembl Gene |
ENSMUSG00000024135 |
| Gene Name |
S1 RNA binding domain 1 |
| Synonyms |
D530025C17Rik |
| MMRRC Submission |
039624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R1587 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86292865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 901
(D901E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095187
AA Change: D901E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: D901E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
128 |
N/A |
INTRINSIC |
|
Pfam:Tex_N
|
213 |
403 |
2.8e-43 |
PFAM |
|
YqgFc
|
532 |
631 |
4.1e-32 |
SMART |
|
Pfam:HHH_7
|
668 |
764 |
1.6e-6 |
PFAM |
|
Pfam:HHH_3
|
698 |
762 |
4.2e-25 |
PFAM |
|
S1
|
903 |
978 |
7e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,585 (GRCm39) |
S111T |
probably benign |
Het |
| Abhd2 |
A |
T |
7: 79,003,758 (GRCm39) |
H279L |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Agrn |
T |
C |
4: 156,263,897 (GRCm39) |
Q122R |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,230,184 (GRCm39) |
F1218I |
probably damaging |
Het |
| Bud13 |
C |
T |
9: 46,201,513 (GRCm39) |
P395S |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,783 (GRCm39) |
V225M |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,210,373 (GRCm39) |
S248T |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,757 (GRCm39) |
Q501K |
probably damaging |
Het |
| Cwc27 |
T |
C |
13: 104,929,145 (GRCm39) |
D266G |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,334 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
G |
4: 115,467,731 (GRCm39) |
N238K |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,456,251 (GRCm39) |
L770P |
probably damaging |
Het |
| Dgcr8 |
C |
T |
16: 18,098,155 (GRCm39) |
G412E |
probably damaging |
Het |
| Disp2 |
C |
A |
2: 118,622,064 (GRCm39) |
A932D |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,922,572 (GRCm39) |
N291K |
possibly damaging |
Het |
| Dnajc7 |
A |
G |
11: 100,492,556 (GRCm39) |
I39T |
probably damaging |
Het |
| Elp1 |
G |
A |
4: 56,786,666 (GRCm39) |
Q426* |
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,296 (GRCm39) |
V316A |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,874,768 (GRCm39) |
T944I |
probably benign |
Het |
| Ezh2 |
T |
G |
6: 47,529,424 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,084,783 (GRCm39) |
I270F |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,488,246 (GRCm39) |
F245L |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,165 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Gm29394 |
A |
G |
15: 57,892,008 (GRCm39) |
*200Q |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,245,722 (GRCm39) |
|
probably null |
Het |
| Krt36 |
A |
T |
11: 99,993,128 (GRCm39) |
I449N |
probably damaging |
Het |
| Ldlr |
A |
T |
9: 21,649,209 (GRCm39) |
H328L |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,303,455 (GRCm39) |
N101S |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,306,650 (GRCm39) |
N321S |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,785,900 (GRCm39) |
S33P |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,244,958 (GRCm39) |
Y831C |
probably damaging |
Het |
| Mfge8 |
T |
A |
7: 78,784,513 (GRCm39) |
I344F |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,867,061 (GRCm39) |
V1430A |
probably benign |
Het |
| Nbas |
G |
A |
12: 13,608,686 (GRCm39) |
R2154H |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,959 (GRCm39) |
R355H |
probably damaging |
Het |
| Noc4l |
T |
C |
5: 110,800,889 (GRCm39) |
T76A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,763 (GRCm39) |
C583S |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,113 (GRCm39) |
I318F |
probably damaging |
Het |
| Phf1 |
T |
A |
17: 27,156,466 (GRCm39) |
V536D |
probably damaging |
Het |
| Prpf4b |
C |
A |
13: 35,076,133 (GRCm39) |
A641D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,182,334 (GRCm39) |
I433T |
probably benign |
Het |
| Resf1 |
G |
T |
6: 149,228,018 (GRCm39) |
V355F |
probably damaging |
Het |
| S100a3 |
G |
A |
3: 90,509,618 (GRCm39) |
E88K |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,108 (GRCm39) |
I31V |
probably benign |
Het |
| Son |
T |
A |
16: 91,456,606 (GRCm39) |
S1784R |
probably damaging |
Het |
| St8sia6 |
C |
T |
2: 13,677,416 (GRCm39) |
D134N |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,047 (GRCm39) |
D423V |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,383 (GRCm39) |
S158P |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,002 (GRCm39) |
V785E |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,275 (GRCm39) |
D124G |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,754,484 (GRCm39) |
L54P |
probably damaging |
Het |
| Zfp324 |
G |
T |
7: 12,704,570 (GRCm39) |
S253I |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,553,559 (GRCm39) |
E337G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,195,437 (GRCm39) |
Q261K |
probably benign |
Het |
| Zhx3 |
T |
C |
2: 160,623,613 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Srbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Srbd1
|
APN |
17 |
86,422,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00988:Srbd1
|
APN |
17 |
86,437,698 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01111:Srbd1
|
APN |
17 |
86,405,961 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02186:Srbd1
|
APN |
17 |
86,416,659 (GRCm39) |
missense |
probably benign |
|
|
IGL02233:Srbd1
|
APN |
17 |
86,406,050 (GRCm39) |
splice site |
probably null |
|
|
IGL02307:Srbd1
|
APN |
17 |
86,433,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Srbd1
|
APN |
17 |
86,295,801 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02831:Srbd1
|
APN |
17 |
86,311,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03299:Srbd1
|
APN |
17 |
86,428,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4494001:Srbd1
|
UTSW |
17 |
86,449,787 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4677001:Srbd1
|
UTSW |
17 |
86,422,640 (GRCm39) |
nonsense |
probably null |
|
|
R0233:Srbd1
|
UTSW |
17 |
86,365,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Srbd1
|
UTSW |
17 |
86,365,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Srbd1
|
UTSW |
17 |
86,427,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0692:Srbd1
|
UTSW |
17 |
86,443,888 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0771:Srbd1
|
UTSW |
17 |
86,437,682 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1074:Srbd1
|
UTSW |
17 |
86,311,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Srbd1
|
UTSW |
17 |
86,405,940 (GRCm39) |
missense |
probably null |
1.00 |
|
R1446:Srbd1
|
UTSW |
17 |
86,446,580 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1780:Srbd1
|
UTSW |
17 |
86,365,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Srbd1
|
UTSW |
17 |
86,422,732 (GRCm39) |
splice site |
probably benign |
|
|
R1933:Srbd1
|
UTSW |
17 |
86,410,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Srbd1
|
UTSW |
17 |
86,410,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Srbd1
|
UTSW |
17 |
86,449,828 (GRCm39) |
missense |
probably benign |
|
|
R2228:Srbd1
|
UTSW |
17 |
86,292,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3162:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3162:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3439:Srbd1
|
UTSW |
17 |
86,365,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3611:Srbd1
|
UTSW |
17 |
86,410,355 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4255:Srbd1
|
UTSW |
17 |
86,410,350 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4300:Srbd1
|
UTSW |
17 |
86,292,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4319:Srbd1
|
UTSW |
17 |
86,358,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Srbd1
|
UTSW |
17 |
86,416,693 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4620:Srbd1
|
UTSW |
17 |
86,416,693 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4629:Srbd1
|
UTSW |
17 |
86,428,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5379:Srbd1
|
UTSW |
17 |
86,308,964 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5469:Srbd1
|
UTSW |
17 |
86,427,370 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5587:Srbd1
|
UTSW |
17 |
86,435,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5726:Srbd1
|
UTSW |
17 |
86,428,157 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6166:Srbd1
|
UTSW |
17 |
86,406,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Srbd1
|
UTSW |
17 |
86,292,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6696:Srbd1
|
UTSW |
17 |
86,446,619 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6971:Srbd1
|
UTSW |
17 |
86,406,718 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6986:Srbd1
|
UTSW |
17 |
86,292,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7018:Srbd1
|
UTSW |
17 |
86,443,843 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7082:Srbd1
|
UTSW |
17 |
86,365,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Srbd1
|
UTSW |
17 |
86,308,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Srbd1
|
UTSW |
17 |
86,443,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7417:Srbd1
|
UTSW |
17 |
86,443,749 (GRCm39) |
missense |
probably benign |
|
|
R7467:Srbd1
|
UTSW |
17 |
86,406,702 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7833:Srbd1
|
UTSW |
17 |
86,292,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8720:Srbd1
|
UTSW |
17 |
86,358,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Srbd1
|
UTSW |
17 |
86,295,849 (GRCm39) |
missense |
probably benign |
|
|
R8899:Srbd1
|
UTSW |
17 |
86,292,885 (GRCm39) |
missense |
|
|
|
R8905:Srbd1
|
UTSW |
17 |
86,308,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9051:Srbd1
|
UTSW |
17 |
86,428,115 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9402:Srbd1
|
UTSW |
17 |
86,406,705 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9701:Srbd1
|
UTSW |
17 |
86,433,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Srbd1
|
UTSW |
17 |
86,437,550 (GRCm39) |
missense |
probably benign |
|
|
R9733:Srbd1
|
UTSW |
17 |
86,422,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGACATTGAGGACTTTCACCTCCAC -3'
(R):5'- TCCTTTACAGGGAGGACAGCAAGC -3'
Sequencing Primer
(F):5'- AGGACTTTCACCTCCACTTTCTC -3'
(R):5'- TCCCAGGCAGTGTTTACAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation