Incidental Mutation 'R1148:Rbm4b'
ID 262812
Institutional Source Beutler Lab
Gene Symbol Rbm4b
Ensembl Gene ENSMUSG00000033760
Gene Name RNA binding motif protein 4B
Synonyms 4921506I22Rik, Lark2
MMRRC Submission 039221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1148 (G1)
Quality Score 29
Status Validated
Chromosome 19
Chromosomal Location 4806480-4816199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4807527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 81 (H81R)
Ref Sequence ENSEMBL: ENSMUSP00000038256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036744] [ENSMUST00000178353] [ENSMUST00000182200]
AlphaFold Q8VE92
Predicted Effect probably damaging
Transcript: ENSMUST00000036744
AA Change: H81R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038256
Gene: ENSMUSG00000033760
AA Change: H81R

DomainStartEndE-ValueType
RRM 3 68 5.4e-20 SMART
RRM 79 144 4.77e-21 SMART
ZnF_C2HC 161 177 1.23e-5 SMART
low complexity region 224 245 N/A INTRINSIC
low complexity region 279 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178353
SMART Domains Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 118 5.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182065
Predicted Effect probably benign
Transcript: ENSMUST00000182200
AA Change: H81R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138146
Gene: ENSMUSG00000033760
AA Change: H81R

DomainStartEndE-ValueType
RRM 3 68 5.4e-20 SMART
RRM 79 145 9.34e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195512
Meta Mutation Damage Score 0.4272 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit small pancreatic islets and defects in glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
AC149051.1 A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Alg10b T C 15: 90,112,068 (GRCm39) F304S possibly damaging Het
Ank3 C T 10: 69,718,369 (GRCm39) S540F probably damaging Het
Arhgef16 T C 4: 154,365,346 (GRCm39) N590D probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bbs9 T C 9: 22,486,396 (GRCm39) probably benign Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Cilp T A 9: 65,187,598 (GRCm39) L1231Q possibly damaging Het
Coq8a G A 1: 179,996,968 (GRCm39) probably benign Het
Cyp4x1 A G 4: 114,983,752 (GRCm39) probably benign Het
Dars1 T C 1: 128,294,646 (GRCm39) probably benign Het
Disp2 G A 2: 118,636,899 (GRCm39) probably null Het
Dnah5 T C 15: 28,421,836 (GRCm39) L3896P probably damaging Het
Dpp8 T C 9: 64,961,114 (GRCm39) probably null Het
Esp4 A C 17: 40,913,262 (GRCm39) N43T probably benign Het
Fat3 T C 9: 15,908,070 (GRCm39) D2644G probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Homo
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Lonp2 A G 8: 87,363,168 (GRCm39) E262G probably benign Het
Ly6h G T 15: 75,437,021 (GRCm39) S118R unknown Het
Mapk12 T C 15: 89,018,826 (GRCm39) Y203C probably damaging Het
Mapk15 A G 15: 75,870,004 (GRCm39) T375A probably benign Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or5g9 C A 2: 85,552,620 (GRCm39) Y290* probably null Het
Osbpl11 T C 16: 33,047,582 (GRCm39) F515S probably damaging Het
Pcdh15 T C 10: 74,006,392 (GRCm39) V90A probably damaging Het
Ptpn4 T A 1: 119,603,439 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,612,270 (GRCm39) D41G probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sh3d19 A G 3: 86,014,634 (GRCm39) D475G possibly damaging Het
Shprh T C 10: 11,089,226 (GRCm39) S1655P possibly damaging Het
Slc25a12 G A 2: 71,142,912 (GRCm39) probably benign Het
Strc A G 2: 121,202,558 (GRCm39) probably benign Het
Trp53rka C A 2: 165,334,961 (GRCm39) probably benign Het
Ttc22 G A 4: 106,480,228 (GRCm39) V161M probably damaging Het
Unc79 T C 12: 103,078,926 (GRCm39) L1504P probably damaging Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Wnk1 A G 6: 119,928,967 (GRCm39) probably benign Het
Wsb2 T C 5: 117,508,742 (GRCm39) probably benign Het
Other mutations in Rbm4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Rbm4b APN 19 4,812,219 (GRCm39) missense probably benign
R1867:Rbm4b UTSW 19 4,812,331 (GRCm39) missense probably benign 0.08
R4924:Rbm4b UTSW 19 4,807,400 (GRCm39) missense probably damaging 1.00
R6746:Rbm4b UTSW 19 4,812,031 (GRCm39) missense probably benign 0.02
R8728:Rbm4b UTSW 19 4,812,219 (GRCm39) missense probably benign
R9215:Rbm4b UTSW 19 4,812,268 (GRCm39) missense possibly damaging 0.60
R9315:Rbm4b UTSW 19 4,812,028 (GRCm39) missense probably damaging 0.98
R9717:Rbm4b UTSW 19 4,807,359 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTGTTCATTGGAAATCTGCCCC -3'
(R):5'- TCTGCCTTGAGCTAGAGACTCCAC -3'

Sequencing Primer
(F):5'- TCACTCTTCGAGCAGTACGG -3'
(R):5'- CTAGAGACTCCACGAAGGTCTG -3'
Posted On 2015-02-04