Incidental Mutation 'R7082:Srbd1'
ID 549651
Institutional Source Beutler Lab
Gene Symbol Srbd1
Ensembl Gene ENSMUSG00000024135
Gene Name S1 RNA binding domain 1
Synonyms D530025C17Rik
MMRRC Submission 045176-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7082 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 86292093-86452603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86365160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 632 (V632A)
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: V632A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: V632A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (88/88)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,260 (GRCm39) N109Y unknown Het
A430005L14Rik C T 4: 154,044,221 (GRCm39) R11W probably damaging Het
Aadacl2 T A 3: 59,932,306 (GRCm39) S274T probably damaging Het
Ahctf1 T C 1: 179,602,898 (GRCm39) R887G probably benign Het
Aox4 G T 1: 58,263,352 (GRCm39) R158L possibly damaging Het
Atp10a T C 7: 58,308,567 (GRCm39) I122T probably damaging Het
Batf2 G T 19: 6,221,405 (GRCm39) A72S possibly damaging Het
Bltp3a G T 17: 28,109,039 (GRCm39) R1086L probably damaging Het
Bptf T C 11: 106,977,573 (GRCm39) D749G probably benign Het
Cacybp A G 1: 160,031,229 (GRCm39) Y200H probably damaging Het
Cdc40 A T 10: 40,743,869 (GRCm39) V76D probably benign Het
Cdc42ep4 T C 11: 113,619,944 (GRCm39) D149G probably benign Het
Chtop A G 3: 90,414,891 (GRCm39) V9A probably benign Het
Cnot9 A G 1: 74,566,165 (GRCm39) I185M probably damaging Het
Col6a5 A G 9: 105,808,438 (GRCm39) I870T unknown Het
Cr1l A G 1: 194,806,006 (GRCm39) I159T probably benign Het
Cthrc1 T C 15: 38,940,495 (GRCm39) S33P probably benign Het
Dlg2 T A 7: 90,381,192 (GRCm39) W44R probably benign Het
Dlgap4 T C 2: 156,590,342 (GRCm39) probably null Het
Dna2 A G 10: 62,790,096 (GRCm39) H193R possibly damaging Het
Espnl T A 1: 91,262,521 (GRCm39) F322Y probably benign Het
Fam171a1 G A 2: 3,224,512 (GRCm39) V293I probably benign Het
Fam76b A G 9: 13,744,308 (GRCm39) Y135C probably damaging Het
Flvcr2 A T 12: 85,793,728 (GRCm39) I35F probably benign Het
Gm9195 T A 14: 72,680,152 (GRCm39) Q2219L probably benign Het
Gnptg T C 17: 25,453,694 (GRCm39) T283A probably benign Het
Grap2 G A 15: 80,532,699 (GRCm39) V289M probably benign Het
Hk3 T C 13: 55,154,710 (GRCm39) T767A probably benign Het
Hs3st5 A G 10: 36,708,833 (GRCm39) I123V probably benign Het
Il6st A G 13: 112,640,566 (GRCm39) T781A probably damaging Het
Inpp5d T A 1: 87,623,102 (GRCm39) H398Q probably damaging Het
Kcnk1 A G 8: 126,722,287 (GRCm39) Y30C probably damaging Het
Klhl6 T C 16: 19,801,633 (GRCm39) T41A probably benign Het
Krt14 G A 11: 100,094,167 (GRCm39) H476Y possibly damaging Het
Lingo3 G C 10: 80,671,625 (GRCm39) R102G probably benign Het
Map3k9 G A 12: 81,771,476 (GRCm39) T704M probably damaging Het
Mdn1 C A 4: 32,762,341 (GRCm39) N5088K probably benign Het
Mmp9 T A 2: 164,790,812 (GRCm39) S67T probably benign Het
Mrps18c A G 5: 100,952,270 (GRCm39) E143G probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Muc21 A T 17: 35,932,093 (GRCm39) S698T unknown Het
Nags C A 11: 102,038,298 (GRCm39) R335S possibly damaging Het
Nars1 A G 18: 64,637,425 (GRCm39) V385A possibly damaging Het
Nipal2 A C 15: 34,584,809 (GRCm39) V253G possibly damaging Het
Nos2 C A 11: 78,819,405 (GRCm39) T39K probably benign Het
Or10p1 T A 10: 129,443,416 (GRCm39) *311Y probably null Het
Or10p1 T A 10: 129,443,417 (GRCm39) *311L probably null Het
Or51t4 T C 7: 102,598,455 (GRCm39) V261A probably damaging Het
Or52s19 C A 7: 103,007,495 (GRCm39) R302L possibly damaging Het
Or6c66 C T 10: 129,461,634 (GRCm39) V99M probably benign Het
Or9s15 G A 1: 92,524,140 (GRCm39) probably benign Het
Panx3 G A 9: 37,577,913 (GRCm39) P106S probably benign Het
Pappa2 G A 1: 158,590,689 (GRCm39) T1655I possibly damaging Het
Pcdhb1 A G 18: 37,400,044 (GRCm39) D665G probably damaging Het
Pde2a T C 7: 101,157,303 (GRCm39) L676P probably damaging Het
Pf4 A G 5: 90,920,851 (GRCm39) T60A possibly damaging Het
Pira12 C T 7: 3,898,510 (GRCm39) V313M probably damaging Het
Pld5 A T 1: 175,917,442 (GRCm39) C164S probably benign Het
Psd3 A T 8: 68,356,800 (GRCm39) M640K probably benign Het
Ptf1a A G 2: 19,450,676 (GRCm39) D2G possibly damaging Het
Ptprq C T 10: 107,544,591 (GRCm39) C313Y probably benign Het
Ranbp10 A G 8: 106,500,578 (GRCm39) S467P probably damaging Het
Rap1gap C T 4: 137,446,247 (GRCm39) T333M probably damaging Het
Rfpl4 A G 7: 5,118,558 (GRCm39) L4P probably benign Het
Rgs12 A G 5: 35,124,050 (GRCm39) N611S probably benign Het
Sacs C A 14: 61,447,966 (GRCm39) N3337K possibly damaging Het
Sbno2 A T 10: 79,895,924 (GRCm39) probably null Het
Scrn2 T A 11: 96,923,908 (GRCm39) V264E possibly damaging Het
Serpinb9c T A 13: 33,338,390 (GRCm39) I198L probably benign Het
Shank2 T C 7: 143,964,096 (GRCm39) F568S probably damaging Het
Slc47a1 C T 11: 61,268,767 (GRCm39) R36Q probably benign Het
Slc4a8 A C 15: 100,688,908 (GRCm39) E406A probably damaging Het
Speg C T 1: 75,388,091 (GRCm39) T1483I probably damaging Het
Srd5a2 A T 17: 74,328,515 (GRCm39) Y188N probably damaging Het
Sspo A T 6: 48,455,543 (GRCm39) probably null Het
Ssx2ip A T 3: 146,136,703 (GRCm39) D317V probably benign Het
Tmco3 G T 8: 13,370,847 (GRCm39) E172* probably null Het
Trpc4 G A 3: 54,206,519 (GRCm39) W573* probably null Het
Ttn T C 2: 76,580,340 (GRCm39) I23518V probably benign Het
Tubal3 A G 13: 3,983,050 (GRCm39) T277A possibly damaging Het
Unc5b A T 10: 60,610,867 (GRCm39) L391H probably damaging Het
Vmn2r76 A G 7: 85,874,440 (GRCm39) F846L probably benign Het
Vps13c T A 9: 67,790,735 (GRCm39) Y338N probably damaging Het
Zc3hav1 G T 6: 38,309,328 (GRCm39) S498* probably null Het
Zfand4 T A 6: 116,305,337 (GRCm39) probably null Het
Zfp451 A T 1: 33,811,972 (GRCm39) probably null Het
Zfp607a A T 7: 27,578,183 (GRCm39) I418F probably damaging Het
Zfp612 A G 8: 110,816,337 (GRCm39) T515A probably damaging Het
Zfp708 G T 13: 67,219,200 (GRCm39) L208I possibly 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
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
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'- GTTCATGTGGCAAAGCTTTTAC -3'
(R):5'- TGGATGTGAGCCTTTGCATC -3'

Sequencing Primer
(F):5'- GGCAAAGCTTTTACACTTTCTTGG -3'
(R):5'- GATGTGAGCCTTTGCATCTGCTATC -3'
Posted On 2019-05-15