Incidental Mutation 'R3160:Srbd1'
| ID |
258135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srbd1
|
| Ensembl Gene |
ENSMUSG00000024135 |
| Gene Name |
S1 RNA binding domain 1 |
| Synonyms |
D530025C17Rik |
| MMRRC Submission |
040611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R3160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86437643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 233
(D233E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095187
AA Change: D233E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: D233E
| 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 |
0.0593 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
| Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
| Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
| Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
| Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
| Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
| Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
| Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
| Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
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 |
|
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'- TCTTTGTTTCATGTCAAGAGCC -3'
(R):5'- AAGCCTGGAGAGAGTTTAGCC -3'
Sequencing Primer
(F):5'- TGTTTCATGTCAAGAGCCCACAG -3'
(R):5'- AGCCTGGAGAGAGTTTAGCCATTTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation