Incidental Mutation 'R1476:Rbm12b1'
ID 164046
Institutional Source Beutler Lab
Gene Symbol Rbm12b1
Ensembl Gene ENSMUSG00000046667
Gene Name RNA binding motif protein 12 B1
Synonyms Rbm12b, 3000004N20Rik
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 12140264-12146731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12145817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 596 (D596E)
Ref Sequence ENSEMBL: ENSMUSP00000064195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050069] [ENSMUST00000069128]
AlphaFold Q80YR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000050069
AA Change: D596E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: D596E

DomainStartEndE-ValueType
RRM 4 72 2.1e-1 SMART
low complexity region 115 125 N/A INTRINSIC
RRM 155 225 5.59e-4 SMART
RRM 284 355 4.87e-4 SMART
RRM 402 474 2.28e-9 SMART
RRM 761 834 1.51e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000069128
AA Change: D596E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: D596E

DomainStartEndE-ValueType
RRM 4 72 2.1e-1 SMART
low complexity region 115 125 N/A INTRINSIC
RRM 155 225 5.59e-4 SMART
RRM 284 355 4.87e-4 SMART
RRM 402 474 2.28e-9 SMART
RRM 761 834 1.51e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146416
Meta Mutation Damage Score 0.0818 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null Het
Other mutations in Rbm12b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Rbm12b1 APN 4 12,146,038 (GRCm39) missense probably damaging 0.99
IGL02103:Rbm12b1 APN 4 12,145,563 (GRCm39) missense probably damaging 0.99
IGL03165:Rbm12b1 APN 4 12,145,845 (GRCm39) missense possibly damaging 0.94
PIT4618001:Rbm12b1 UTSW 4 12,145,441 (GRCm39) missense probably damaging 1.00
R0449:Rbm12b1 UTSW 4 12,145,507 (GRCm39) missense probably benign 0.00
R0528:Rbm12b1 UTSW 4 12,145,657 (GRCm39) missense probably benign 0.00
R0571:Rbm12b1 UTSW 4 12,146,248 (GRCm39) missense probably benign 0.00
R1709:Rbm12b1 UTSW 4 12,145,827 (GRCm39) missense probably benign 0.00
R1759:Rbm12b1 UTSW 4 12,145,424 (GRCm39) missense probably damaging 1.00
R1967:Rbm12b1 UTSW 4 12,146,304 (GRCm39) missense probably benign 0.00
R2055:Rbm12b1 UTSW 4 12,145,606 (GRCm39) missense probably benign 0.05
R2425:Rbm12b1 UTSW 4 12,146,443 (GRCm39) missense probably damaging 0.99
R4015:Rbm12b1 UTSW 4 12,145,491 (GRCm39) missense probably benign 0.04
R4332:Rbm12b1 UTSW 4 12,145,655 (GRCm39) missense probably benign 0.02
R5773:Rbm12b1 UTSW 4 12,145,765 (GRCm39) missense probably damaging 1.00
R6497:Rbm12b1 UTSW 4 12,146,431 (GRCm39) missense probably benign 0.00
R7740:Rbm12b1 UTSW 4 12,145,954 (GRCm39) missense probably benign 0.00
R7761:Rbm12b1 UTSW 4 12,146,460 (GRCm39) missense possibly damaging 0.92
R8083:Rbm12b1 UTSW 4 12,146,409 (GRCm39) missense probably damaging 1.00
R8129:Rbm12b1 UTSW 4 12,145,549 (GRCm39) missense probably damaging 1.00
R8389:Rbm12b1 UTSW 4 12,146,363 (GRCm39) missense probably damaging 1.00
R8932:Rbm12b1 UTSW 4 12,145,689 (GRCm39) missense probably benign 0.00
R9302:Rbm12b1 UTSW 4 12,146,181 (GRCm39) missense probably benign 0.13
Z1088:Rbm12b1 UTSW 4 12,146,079 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCAGTCTGAAAGCCTTCGTTACC -3'
(R):5'- AGCTTGCCTAAAGTCTTCATCAGCC -3'

Sequencing Primer
(F):5'- GGAAAATGGGTCATTTCAAGCATC -3'
(R):5'- AGTCTTCATCAGCCACATGC -3'
Posted On 2014-03-28