Incidental Mutation 'R5379:Srbd1'
| ID |
425779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srbd1
|
| Ensembl Gene |
ENSMUSG00000024135 |
| Gene Name |
S1 RNA binding domain 1 |
| Synonyms |
D530025C17Rik |
| MMRRC Submission |
042954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R5379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 86308964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 738
(I738S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095187
AA Change: I738S
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: I738S
| 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 |
|
| Meta Mutation Damage Score |
0.1890 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,096,532 (GRCm39) |
L640Q |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,891,721 (GRCm39) |
E32G |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,489,411 (GRCm39) |
M734L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,822,296 (GRCm39) |
D294G |
probably damaging |
Het |
| Baz1a |
T |
G |
12: 54,941,133 (GRCm39) |
D1539A |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,208,520 (GRCm39) |
S141T |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,822,545 (GRCm39) |
V20A |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,375,279 (GRCm39) |
Y187H |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,443 (GRCm39) |
Y362H |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,499,846 (GRCm39) |
G3008* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,008,029 (GRCm39) |
|
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,335,135 (GRCm39) |
R59C |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,003,533 (GRCm39) |
K10E |
probably benign |
Het |
| Eif5 |
T |
C |
12: 111,509,989 (GRCm39) |
L311P |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,795,825 (GRCm39) |
F251S |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,998 (GRCm39) |
S620P |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,494,169 (GRCm39) |
V550A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,767 (GRCm39) |
T1091A |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,266,246 (GRCm39) |
|
probably benign |
Het |
| Fndc5 |
A |
T |
4: 129,035,887 (GRCm39) |
I175F |
probably damaging |
Het |
| Gtf2ird2 |
G |
C |
5: 134,246,310 (GRCm39) |
R856P |
probably benign |
Het |
| Hc |
A |
T |
2: 34,881,077 (GRCm39) |
F1481I |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,862 (GRCm39) |
T1211S |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,299,023 (GRCm39) |
V2790M |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,297 (GRCm39) |
Y71C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,711,560 (GRCm39) |
D725G |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,350,371 (GRCm39) |
V754A |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,186,945 (GRCm39) |
T91K |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,190 (GRCm39) |
E1948G |
possibly damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,496 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrc4 |
A |
T |
17: 74,755,078 (GRCm39) |
L46* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,836,010 (GRCm39) |
I160T |
probably benign |
Het |
| Or7g21 |
A |
T |
9: 19,032,373 (GRCm39) |
T38S |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,151 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Orm1 |
A |
G |
4: 63,264,230 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
T |
7: 112,178,927 (GRCm39) |
H311L |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,521,493 (GRCm39) |
I370V |
probably benign |
Het |
| Proca1 |
C |
A |
11: 78,096,092 (GRCm39) |
S154R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,307,771 (GRCm39) |
V344A |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,799,247 (GRCm39) |
K293N |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,083 (GRCm39) |
V423A |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,652,639 (GRCm39) |
Y711N |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,042,309 (GRCm39) |
M498K |
possibly damaging |
Het |
| Sin3a |
T |
C |
9: 57,018,272 (GRCm39) |
M897T |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,072,991 (GRCm39) |
V2106A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,638,496 (GRCm39) |
R412G |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,354,843 (GRCm39) |
R8Q |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,952,363 (GRCm39) |
Y548H |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,054 (GRCm39) |
H152L |
possibly damaging |
Het |
| Zfp184 |
A |
G |
13: 22,144,051 (GRCm39) |
I586V |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,774,629 (GRCm39) |
T15A |
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 |
|
|
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 |
|
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'- TGGCATCTAGAGCTTTCGGC -3'
(R):5'- TCCAGTATCACAAGCAGCAG -3'
Sequencing Primer
(F):5'- CATCTAGAGCTTTCGGCAGGAG -3'
(R):5'- CAGTTGCAGGTGATTTTAAGATCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation