Incidental Mutation 'R5490:Rbm43'
ID 432026
Institutional Source Beutler Lab
Gene Symbol Rbm43
Ensembl Gene ENSMUSG00000036249
Gene Name RNA binding motif protein 43
Synonyms 0610033I05Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 51814460-51825175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51815607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 205 (T205S)
Ref Sequence ENSEMBL: ENSMUSP00000126129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102767] [ENSMUST00000102768] [ENSMUST00000165313]
AlphaFold Q99J64
Predicted Effect probably benign
Transcript: ENSMUST00000102767
AA Change: T205S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099828
Gene: ENSMUSG00000036249
AA Change: T205S

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102768
AA Change: T205S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099829
Gene: ENSMUSG00000036249
AA Change: T205S

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152800
Predicted Effect probably benign
Transcript: ENSMUST00000165313
AA Change: T205S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126129
Gene: ENSMUSG00000036249
AA Change: T205S

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Rbm43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Rbm43 APN 2 51,815,460 (GRCm39) missense probably damaging 0.99
IGL03101:Rbm43 APN 2 51,816,757 (GRCm39) missense probably benign 0.07
R0015:Rbm43 UTSW 2 51,815,679 (GRCm39) missense probably benign 0.01
R0015:Rbm43 UTSW 2 51,815,679 (GRCm39) missense probably benign 0.01
R0034:Rbm43 UTSW 2 51,815,722 (GRCm39) missense probably benign 0.00
R0034:Rbm43 UTSW 2 51,815,722 (GRCm39) missense probably benign 0.00
R1909:Rbm43 UTSW 2 51,815,446 (GRCm39) missense possibly damaging 0.92
R1972:Rbm43 UTSW 2 51,815,548 (GRCm39) missense probably benign 0.00
R4709:Rbm43 UTSW 2 51,819,728 (GRCm39) missense probably damaging 1.00
R5120:Rbm43 UTSW 2 51,822,435 (GRCm39) start gained probably benign
R5378:Rbm43 UTSW 2 51,815,633 (GRCm39) missense probably damaging 1.00
R6502:Rbm43 UTSW 2 51,815,588 (GRCm39) missense probably damaging 1.00
R7585:Rbm43 UTSW 2 51,816,763 (GRCm39) missense probably benign 0.05
R7894:Rbm43 UTSW 2 51,815,909 (GRCm39) missense probably damaging 0.99
R8305:Rbm43 UTSW 2 51,816,712 (GRCm39) missense probably damaging 1.00
R9085:Rbm43 UTSW 2 51,824,930 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCTGGGCACACTCTTCAATG -3'
(R):5'- CAAGGTTCATTTCTGGCCATC -3'

Sequencing Primer
(F):5'- GGGCACACTCTTCAATGAATTC -3'
(R):5'- CATGAAGCTCAAACAGGCTTTG -3'
Posted On 2016-10-05