Incidental Mutation 'R2228:Srbd1'
ID |
239884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srbd1
|
Ensembl Gene |
ENSMUSG00000024135 |
Gene Name |
S1 RNA binding domain 1 |
Synonyms |
D530025C17Rik |
MMRRC Submission |
040229-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R2228 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86292651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 973
(I973V)
|
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: I973V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092810 Gene: ENSMUSG00000024135 AA Change: I973V
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,559,935 (GRCm39) |
T242A |
probably benign |
Het |
Adam24 |
A |
T |
8: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
Aldh3b2 |
C |
T |
19: 4,031,133 (GRCm39) |
P461S |
probably benign |
Het |
Araf |
T |
C |
X: 20,717,912 (GRCm39) |
F144L |
probably benign |
Het |
Atp11b |
G |
T |
3: 35,861,091 (GRCm39) |
D193Y |
probably damaging |
Het |
Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
A |
10: 20,215,624 (GRCm39) |
|
probably benign |
Het |
Cadps |
A |
G |
14: 12,465,935 (GRCm38) |
Y987H |
probably benign |
Het |
Capn6 |
T |
G |
X: 142,587,785 (GRCm39) |
T498P |
possibly damaging |
Het |
Ccdc153 |
T |
A |
9: 44,154,314 (GRCm39) |
L47Q |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
Cep162 |
G |
T |
9: 87,126,384 (GRCm39) |
T176K |
probably benign |
Het |
Cpsf2 |
A |
G |
12: 101,956,088 (GRCm39) |
D297G |
probably benign |
Het |
Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,099,734 (GRCm39) |
L18Q |
probably damaging |
Het |
Fem1b |
G |
T |
9: 62,704,020 (GRCm39) |
C413* |
probably null |
Het |
Flrt1 |
T |
A |
19: 7,072,723 (GRCm39) |
D608V |
probably damaging |
Het |
Fstl5 |
C |
A |
3: 76,389,659 (GRCm39) |
N285K |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,004,107 (GRCm39) |
H235R |
probably damaging |
Het |
Htr2c |
G |
C |
X: 145,977,186 (GRCm39) |
W325C |
probably damaging |
Het |
Htr2c |
G |
T |
X: 145,977,188 (GRCm39) |
C326F |
probably damaging |
Het |
Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,792 (GRCm39) |
S920P |
probably damaging |
Het |
Macroh2a1 |
C |
T |
13: 56,232,075 (GRCm39) |
G235S |
probably damaging |
Het |
Mcm8 |
T |
A |
2: 132,662,041 (GRCm39) |
I125K |
possibly damaging |
Het |
Micall1 |
C |
T |
15: 79,014,036 (GRCm39) |
R644W |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,801,463 (GRCm39) |
E1887G |
probably benign |
Het |
Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,123,007 (GRCm39) |
R3734G |
probably benign |
Het |
Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,802 (GRCm39) |
M271L |
probably benign |
Het |
P2ry4 |
A |
G |
X: 99,637,553 (GRCm39) |
L115P |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp1r26 |
T |
C |
2: 28,343,798 (GRCm39) |
F1143L |
possibly damaging |
Het |
Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
Ptafr |
T |
G |
4: 132,306,691 (GRCm39) |
I27R |
possibly damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
Reln |
A |
G |
5: 22,192,076 (GRCm39) |
F1455L |
possibly damaging |
Het |
Rufy1 |
C |
T |
11: 50,288,611 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,376,910 (GRCm39) |
H117R |
probably benign |
Het |
Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
Sipa1l3 |
T |
A |
7: 29,077,364 (GRCm39) |
K803* |
probably null |
Het |
Smim23 |
C |
A |
11: 32,771,870 (GRCm39) |
Q65H |
probably damaging |
Het |
Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
Sppl2b |
G |
A |
10: 80,701,451 (GRCm39) |
V389M |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,123,531 (GRCm39) |
P10L |
probably damaging |
Het |
Taf2 |
A |
C |
15: 54,928,042 (GRCm39) |
D120E |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,555,068 (GRCm39) |
L42S |
probably benign |
Het |
Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
Tro |
A |
T |
X: 149,438,477 (GRCm39) |
M60K |
probably benign |
Het |
Ttc38 |
G |
A |
15: 85,728,704 (GRCm39) |
V219I |
probably benign |
Het |
U2af2 |
T |
C |
7: 5,078,672 (GRCm39) |
I417T |
probably damaging |
Het |
Ube2r2 |
C |
T |
4: 41,174,044 (GRCm39) |
H61Y |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r113 |
C |
T |
7: 20,521,832 (GRCm39) |
S208F |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,024,955 (GRCm39) |
K16E |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
Zdhhc4 |
A |
C |
5: 143,306,162 (GRCm39) |
W189G |
probably damaging |
Het |
Zfp512 |
A |
T |
5: 31,622,919 (GRCm39) |
K73N |
probably damaging |
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 |
R1587:Srbd1
|
UTSW |
17 |
86,292,865 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- CTTTCCGTGGGAGTCAGGATAG -3'
(R):5'- TGTGTCTGGAAGACCTGCAG -3'
Sequencing Primer
(F):5'- TGGGAGTCAGGATAGTGTGATGAAC -3'
(R):5'- CAGTTCTTACAGGCAAAGTGG -3'
|
Posted On |
2014-10-15 |