Incidental Mutation 'IGL00963:Srbd1'
ID29327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srbd1
Ensembl Gene ENSMUSG00000024135
Gene NameS1 RNA binding domain 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL00963
Quality Score
Status
Chromosome17
Chromosomal Location85984665-86145175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86115209 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 460 (W460R)
Ref Sequence ENSEMBL: ENSMUSP00000092810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095187]
Predicted Effect probably damaging
Transcript: ENSMUST00000095187
AA Change: W460R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: W460R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Srbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Srbd1 APN 17 86130270 missense probably damaging 0.96
IGL01111:Srbd1 APN 17 86098533 missense probably benign 0.15
IGL02186:Srbd1 APN 17 86109231 missense probably benign
IGL02233:Srbd1 APN 17 86098622 splice site probably null
IGL02307:Srbd1 APN 17 86126188 missense probably damaging 1.00
IGL02392:Srbd1 APN 17 85988373 missense probably benign 0.34
IGL02831:Srbd1 APN 17 86003871 missense probably damaging 1.00
IGL03299:Srbd1 APN 17 86120659 missense possibly damaging 0.95
PIT4494001:Srbd1 UTSW 17 86142359 critical splice donor site probably null
PIT4677001:Srbd1 UTSW 17 86115212 nonsense probably null
R0233:Srbd1 UTSW 17 86057745 missense probably damaging 1.00
R0233:Srbd1 UTSW 17 86057745 missense probably damaging 1.00
R0464:Srbd1 UTSW 17 86120002 missense probably damaging 1.00
R0692:Srbd1 UTSW 17 86136460 missense probably benign 0.25
R0771:Srbd1 UTSW 17 86130254 missense probably benign 0.09
R1074:Srbd1 UTSW 17 86003952 missense probably damaging 1.00
R1173:Srbd1 UTSW 17 86098512 missense probably null 1.00
R1446:Srbd1 UTSW 17 86139152 missense probably benign 0.44
R1587:Srbd1 UTSW 17 85985437 missense probably damaging 1.00
R1780:Srbd1 UTSW 17 86057685 missense probably damaging 1.00
R1865:Srbd1 UTSW 17 86115304 splice site probably benign
R1933:Srbd1 UTSW 17 86102893 missense probably damaging 1.00
R1934:Srbd1 UTSW 17 86102893 missense probably damaging 1.00
R2002:Srbd1 UTSW 17 86142400 missense probably benign
R2228:Srbd1 UTSW 17 85985223 missense probably damaging 1.00
R3160:Srbd1 UTSW 17 86130215 missense probably benign 0.03
R3162:Srbd1 UTSW 17 86130215 missense probably benign 0.03
R3162:Srbd1 UTSW 17 86130215 missense probably benign 0.03
R3439:Srbd1 UTSW 17 86057759 missense probably benign 0.01
R3611:Srbd1 UTSW 17 86102927 missense probably benign 0.03
R4255:Srbd1 UTSW 17 86102922 missense possibly damaging 0.80
R4300:Srbd1 UTSW 17 85985204 missense probably damaging 0.98
R4319:Srbd1 UTSW 17 86051150 missense probably damaging 1.00
R4619:Srbd1 UTSW 17 86109265 missense probably benign 0.30
R4620:Srbd1 UTSW 17 86109265 missense probably benign 0.30
R4629:Srbd1 UTSW 17 86120672 missense probably damaging 0.99
R5379:Srbd1 UTSW 17 86001536 missense possibly damaging 0.88
R5469:Srbd1 UTSW 17 86119942 missense possibly damaging 0.77
R5587:Srbd1 UTSW 17 86127801 missense probably damaging 0.99
R5726:Srbd1 UTSW 17 86120729 missense possibly damaging 0.89
R6166:Srbd1 UTSW 17 86099268 missense probably damaging 1.00
R6237:Srbd1 UTSW 17 85985295 missense probably damaging 0.99
R6696:Srbd1 UTSW 17 86139191 missense possibly damaging 0.46
R6971:Srbd1 UTSW 17 86099290 missense possibly damaging 0.79
R6986:Srbd1 UTSW 17 85985222 missense probably damaging 1.00
R7018:Srbd1 UTSW 17 86136415 missense possibly damaging 0.93
R7082:Srbd1 UTSW 17 86057732 missense probably damaging 1.00
Posted On2013-04-17