Incidental Mutation 'IGL02513:Rbm44'
ID296647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm44
Ensembl Gene ENSMUSG00000070732
Gene NameRNA binding motif protein 44
SynonymsLOC329207
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02513
Quality Score
Status
Chromosome1
Chromosomal Location91145089-91170795 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91155538 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 594 (S594R)
Ref Sequence ENSEMBL: ENSMUSP00000092286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094698] [ENSMUST00000188818]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094698
AA Change: S594R

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: S594R

DomainStartEndE-ValueType
low complexity region 227 238 N/A INTRINSIC
low complexity region 444 460 N/A INTRINSIC
RRM 793 861 8.27e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188818
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous or heterozygous for a knock-out allele exhibit enhanced fertility with increased litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 7,992,979 V787F probably benign Het
Atg14 T C 14: 47,548,994 I268V probably benign Het
Atg14 T A 14: 47,545,624 probably benign Het
Atm A T 9: 53,497,262 probably benign Het
Atp5s A T 12: 69,741,045 Y85F probably benign Het
Ccdc9 A G 7: 16,284,509 probably benign Het
Cers6 T C 2: 69,068,669 F217S probably benign Het
Crebbp A C 16: 4,126,605 probably null Het
Csmd1 T A 8: 15,999,869 probably benign Het
Eml1 T A 12: 108,530,312 V609E probably damaging Het
Fam155a T A 8: 9,207,930 D406V probably benign Het
Fryl A G 5: 73,065,293 S204P probably damaging Het
Gpr152 A G 19: 4,142,844 D128G probably damaging Het
Itgal T A 7: 127,328,672 V1013D possibly damaging Het
Kctd18 A G 1: 57,965,400 Y112H probably damaging Het
Kdm4d T A 9: 14,464,554 T3S probably benign Het
Lrp1b C T 2: 41,110,753 probably null Het
Mex3c T A 18: 73,590,289 D484E possibly damaging Het
Nat14 T C 7: 4,924,051 V74A possibly damaging Het
Olfr11 A G 13: 21,639,340 F61S probably damaging Het
Pabpc2 C T 18: 39,775,140 T486I probably benign Het
Pgm1 A G 5: 64,102,946 probably benign Het
Pkn3 T A 2: 30,083,137 I353N probably damaging Het
Rrbp1 C T 2: 143,988,430 A606T possibly damaging Het
Tcof1 A G 18: 60,831,778 V623A possibly damaging Het
Tg A G 15: 66,705,274 E1482G probably benign Het
Uba1 A G X: 20,675,646 T546A probably benign Het
Vmn2r37 T C 7: 9,217,935 K310E probably benign Het
Zbtb38 A T 9: 96,687,073 W653R probably damaging Het
Zdhhc19 A T 16: 32,499,622 I99F probably damaging Het
Zfp236 T C 18: 82,630,114 Y974C probably damaging Het
Other mutations in Rbm44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rbm44 APN 1 91157109 missense probably benign
IGL01089:Rbm44 APN 1 91168697 missense possibly damaging 0.61
IGL01339:Rbm44 APN 1 91168964 missense probably benign 0.45
IGL01410:Rbm44 APN 1 91168829 missense probably benign 0.01
IGL01624:Rbm44 APN 1 91156658 missense probably damaging 0.96
IGL01963:Rbm44 APN 1 91163108 missense probably benign 0.00
IGL02067:Rbm44 APN 1 91152845 missense probably damaging 0.98
IGL02804:Rbm44 APN 1 91150176 intron probably benign
IGL02806:Rbm44 APN 1 91153077 missense possibly damaging 0.79
IGL02887:Rbm44 APN 1 91153180 missense probably damaging 1.00
IGL03309:Rbm44 APN 1 91168840 critical splice donor site probably null
R0360:Rbm44 UTSW 1 91152347 missense probably benign 0.01
R0364:Rbm44 UTSW 1 91152347 missense probably benign 0.01
R0647:Rbm44 UTSW 1 91156928 missense probably benign 0.00
R1345:Rbm44 UTSW 1 91152759 missense probably damaging 0.99
R1352:Rbm44 UTSW 1 91153042 missense probably damaging 1.00
R1575:Rbm44 UTSW 1 91156843 splice site probably null
R1768:Rbm44 UTSW 1 91153957 splice site probably null
R4901:Rbm44 UTSW 1 91153328 missense probably benign 0.13
R4913:Rbm44 UTSW 1 91155494 missense probably damaging 1.00
R5023:Rbm44 UTSW 1 91169098 critical splice donor site probably null
R5569:Rbm44 UTSW 1 91168738 missense probably damaging 0.99
R5874:Rbm44 UTSW 1 91156840 critical splice donor site probably null
R5981:Rbm44 UTSW 1 91152689 missense possibly damaging 0.61
R6441:Rbm44 UTSW 1 91157077 missense probably damaging 0.98
R6515:Rbm44 UTSW 1 91165138 missense probably damaging 0.96
R7380:Rbm44 UTSW 1 91152216 missense possibly damaging 0.77
R7783:Rbm44 UTSW 1 91168829 missense probably benign 0.01
Posted On2015-04-16