Incidental Mutation 'R4903:Rbm34'
ID 377954
Institutional Source Beutler Lab
Gene Symbol Rbm34
Ensembl Gene ENSMUSG00000033931
Gene Name RNA binding motif protein 34
Synonyms 4930547K05Rik, D8Ertd233e
MMRRC Submission 042506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4903 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 127673922-127697799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127678087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Ref Sequence ENSEMBL: ENSMUSP00000148473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045994] [ENSMUST00000212618]
AlphaFold Q8C5L7
Predicted Effect probably benign
Transcript: ENSMUST00000045994
AA Change: D289G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: D289G

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 41 53 N/A INTRINSIC
low complexity region 83 91 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
low complexity region 140 152 N/A INTRINSIC
RRM 190 280 5.33e-10 SMART
RRM 292 364 5.2e-22 SMART
internal_repeat_2 394 404 6.88e-5 PROSPERO
internal_repeat_2 401 411 6.88e-5 PROSPERO
low complexity region 423 442 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212618
AA Change: D269G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.0776 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abca9 A G 11: 110,037,827 (GRCm39) Y508H probably damaging Het
Abcc9 A T 6: 142,546,691 (GRCm39) L1347H probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Agbl2 A G 2: 90,627,817 (GRCm39) I207M possibly damaging Het
Akna C A 4: 63,292,274 (GRCm39) R1130S probably damaging Het
Alg12 A T 15: 88,698,743 (GRCm39) I194N probably damaging Het
Alk T A 17: 72,176,558 (GRCm39) H1582L probably damaging Het
Atn1 G C 6: 124,720,220 (GRCm39) probably benign Het
Carhsp1 T C 16: 8,478,864 (GRCm39) T130A probably damaging Het
Chrna3 T C 9: 54,922,810 (GRCm39) T333A probably benign Het
Ctsr T A 13: 61,310,945 (GRCm39) I34L probably benign Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Dars2 G C 1: 160,878,941 (GRCm39) P362R probably benign Het
Dnah10 A G 5: 124,894,812 (GRCm39) E3459G probably damaging Het
Dus2 G A 8: 106,771,437 (GRCm39) D188N probably benign Het
Ece2 C T 16: 20,449,972 (GRCm39) R189* probably null Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Egr2 T A 10: 67,374,163 (GRCm39) I51N probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Gm11564 A C 11: 99,705,858 (GRCm39) C191G unknown Het
Gpatch8 A G 11: 102,370,959 (GRCm39) S860P unknown Het
Gprin1 C G 13: 54,885,742 (GRCm39) W844S probably damaging Het
Hhipl2 T A 1: 183,207,698 (GRCm39) Y252* probably null Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hrg A G 16: 22,779,901 (GRCm39) probably benign Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Jak2 A G 19: 29,252,436 (GRCm39) S129G probably benign Het
Kif1a C T 1: 92,949,456 (GRCm39) E1579K probably damaging Het
Lhcgr A T 17: 89,049,789 (GRCm39) I579N probably damaging Het
Lrig3 A T 10: 125,832,482 (GRCm39) probably null Het
Man2c1 C A 9: 57,046,240 (GRCm39) Q465K probably benign Het
Map3k5 T A 10: 19,994,235 (GRCm39) L1043Q probably null Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mapk8ip3 A G 17: 25,120,183 (GRCm39) S946P probably benign Het
Mrpl50 T C 4: 49,514,488 (GRCm39) Y61C probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Nek11 T C 9: 105,191,921 (GRCm39) K163R possibly damaging Het
Or1l4b A T 2: 37,036,383 (GRCm39) H53L probably benign Het
Or4c105 A T 2: 88,648,342 (GRCm39) I276L probably benign Het
Pcdhga9 C A 18: 37,872,058 (GRCm39) T629K probably damaging Het
Pglyrp1 A G 7: 18,624,128 (GRCm39) N137S probably benign Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pitpnm2 T A 5: 124,290,668 (GRCm39) Y6F probably damaging Het
Pkd1 T G 17: 24,790,976 (GRCm39) V1057G probably benign Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plekha5 T A 6: 140,532,093 (GRCm39) M586K probably damaging Het
Ppp4r4 T A 12: 103,557,030 (GRCm39) probably null Het
Rasal3 C T 17: 32,616,357 (GRCm39) C278Y probably damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Sema3d A G 5: 12,613,125 (GRCm39) K401E probably benign Het
Sema7a T C 9: 57,862,378 (GRCm39) Y194H probably benign Het
Senp5 A T 16: 31,802,117 (GRCm39) Y585N probably damaging Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Shbg C T 11: 69,505,912 (GRCm39) S365N probably benign Het
Slc39a6 A T 18: 24,730,925 (GRCm39) S65T probably damaging Het
Stk3 T C 15: 34,959,212 (GRCm39) E320G probably damaging Het
Syk T A 13: 52,765,117 (GRCm39) H81Q probably damaging Het
Tet1 A G 10: 62,658,437 (GRCm39) W1470R probably damaging Het
Thada C A 17: 84,559,828 (GRCm39) V1450L possibly damaging Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trdv1 T A 14: 54,119,375 (GRCm39) probably benign Het
Trim40 T C 17: 37,194,117 (GRCm39) E192G possibly damaging Het
Trip11 A T 12: 101,853,065 (GRCm39) probably null Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Tshr A G 12: 91,367,962 (GRCm39) D35G probably benign Het
Tssc4 T C 7: 142,624,322 (GRCm39) V210A probably damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl4a T C 18: 80,250,493 (GRCm39) F30L probably damaging Het
Ubac2 G T 14: 122,231,650 (GRCm39) C192F probably benign Het
Vmn1r12 A G 6: 57,136,502 (GRCm39) T156A possibly damaging Het
Zfp747l1 T A 7: 126,984,578 (GRCm39) T175S probably benign Het
Other mutations in Rbm34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Rbm34 APN 8 127,696,736 (GRCm39) missense probably benign 0.10
IGL02505:Rbm34 APN 8 127,676,071 (GRCm39) missense probably benign 0.08
IGL03166:Rbm34 APN 8 127,697,606 (GRCm39) missense probably damaging 1.00
R0081:Rbm34 UTSW 8 127,676,234 (GRCm39) missense probably damaging 0.99
R1186:Rbm34 UTSW 8 127,692,197 (GRCm39) nonsense probably null
R1257:Rbm34 UTSW 8 127,697,643 (GRCm39) missense possibly damaging 0.45
R1867:Rbm34 UTSW 8 127,697,631 (GRCm39) missense probably benign 0.17
R1868:Rbm34 UTSW 8 127,697,631 (GRCm39) missense probably benign 0.17
R4008:Rbm34 UTSW 8 127,676,037 (GRCm39) missense probably benign 0.00
R4395:Rbm34 UTSW 8 127,676,131 (GRCm39) missense probably benign 0.03
R4823:Rbm34 UTSW 8 127,697,655 (GRCm39) missense probably benign 0.01
R4964:Rbm34 UTSW 8 127,678,087 (GRCm39) missense possibly damaging 0.71
R4966:Rbm34 UTSW 8 127,678,087 (GRCm39) missense possibly damaging 0.71
R5605:Rbm34 UTSW 8 127,676,169 (GRCm39) missense probably benign 0.05
R5734:Rbm34 UTSW 8 127,696,880 (GRCm39) critical splice acceptor site probably null
R6515:Rbm34 UTSW 8 127,688,682 (GRCm39) missense possibly damaging 0.48
R8263:Rbm34 UTSW 8 127,692,139 (GRCm39) missense probably benign 0.03
R8544:Rbm34 UTSW 8 127,696,821 (GRCm39) missense probably benign 0.00
R8915:Rbm34 UTSW 8 127,679,908 (GRCm39) splice site probably benign
R8957:Rbm34 UTSW 8 127,692,208 (GRCm39) missense probably benign 0.00
R9005:Rbm34 UTSW 8 127,686,332 (GRCm39) missense possibly damaging 0.65
R9131:Rbm34 UTSW 8 127,679,928 (GRCm39) missense probably damaging 0.97
R9635:Rbm34 UTSW 8 127,696,872 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGCACGGAACTTAAAACATC -3'
(R):5'- CTTAGAGCCTCAGGGTTTGCTG -3'

Sequencing Primer
(F):5'- TCACAAATACCAGAGAGGAGCTC -3'
(R):5'- GAGTGCCACTGTGAACAAGTCTC -3'
Posted On 2016-04-15