Incidental Mutation 'R3162:Srbd1'
ID 349873
Institutional Source Beutler Lab
Gene Symbol Srbd1
Ensembl Gene ENSMUSG00000024135
Gene Name S1 RNA binding domain 1
Synonyms D530025C17Rik
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R3162 (G1)
Quality Score 225
Status 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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
9930014A18Rik A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P 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
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm13141 GGTTTCTTGATGCC G 4: 147,612,561 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hpx C T 7: 105,248,847 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Skic8 T A 9: 54,631,473 (GRCm39) probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Srbd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCTGGAGAGAGTTTAGCC -3'

Sequencing Primer
(F):5'- TGTTTCATGTCAAGAGCCCACAG -3'
(R):5'- AGCCTGGAGAGAGTTTAGCCATTTAC -3'
Posted On 2015-10-08