Incidental Mutation 'IGL02806:Rbm44'
ID360413
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: 0.066) question?
Stock #IGL02806
Quality Score
Status
Chromosome1
Chromosomal Location91145089-91170795 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91153077 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 329 (L329S)
Ref Sequence ENSEMBL: ENSMUSP00000092286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094698] [ENSMUST00000188818]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094698
AA Change: L329S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: L329S

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Acsm1 G A 7: 119,636,638 D194N probably benign Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Hyou1 C A 9: 44,388,883 S823* probably null Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Ms4a4d T C 19: 11,556,246 S164P possibly damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Snx10 T A 6: 51,588,349 F149I probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Tnfsf18 T G 1: 161,503,779 M166R possibly damaging Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign 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
IGL02513:Rbm44 APN 1 91155538 missense possibly damaging 0.63
IGL02804:Rbm44 APN 1 91150176 intron probably benign
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
Z1176:Rbm44 UTSW 1 91153400 missense probably benign
Posted On2015-12-18