Incidental Mutation 'R2173:Rbm6'
ID 237629
Institutional Source Beutler Lab
Gene Symbol Rbm6
Ensembl Gene ENSMUSG00000032582
Gene Name RNA binding motif protein 6
Synonyms NY-LU-12, g16, Def-3
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107650758-107750436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107729390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 419 (F419L)
Ref Sequence ENSEMBL: ENSMUSP00000138400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195866] [ENSMUST00000195883]
AlphaFold S4R1W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000035201
AA Change: F287L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: F287L

DomainStartEndE-ValueType
internal_repeat_1 4 42 2.66e-5 PROSPERO
low complexity region 61 87 N/A INTRINSIC
internal_repeat_1 106 157 2.66e-5 PROSPERO
RRM 325 400 2.67e-2 SMART
Blast:ZnF_RBZ 406 430 2e-11 BLAST
RRM 522 601 1.32e-1 SMART
low complexity region 748 765 N/A INTRINSIC
ZnF_C2H2 818 843 4.34e0 SMART
low complexity region 864 876 N/A INTRINSIC
G_patch 912 958 7.87e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182301
Predicted Effect possibly damaging
Transcript: ENSMUST00000183032
AA Change: F419L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: F419L

DomainStartEndE-ValueType
internal_repeat_1 43 119 2.42e-5 PROSPERO
internal_repeat_2 46 164 3.18e-5 PROSPERO
internal_repeat_1 121 189 2.42e-5 PROSPERO
low complexity region 193 219 N/A INTRINSIC
internal_repeat_2 224 319 3.18e-5 PROSPERO
RRM 457 532 2.67e-2 SMART
Blast:ZnF_RBZ 538 562 2e-9 BLAST
RRM 654 733 1.32e-1 SMART
low complexity region 880 897 N/A INTRINSIC
ZnF_C2H2 950 975 4.34e0 SMART
low complexity region 996 1008 N/A INTRINSIC
G_patch 1044 1090 7.87e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193957
Predicted Effect probably benign
Transcript: ENSMUST00000195866
Predicted Effect probably benign
Transcript: ENSMUST00000195883
SMART Domains Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

DomainStartEndE-ValueType
Blast:ZnF_RBZ 24 48 9e-12 BLAST
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging Het
Other mutations in Rbm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Rbm6 APN 9 107,665,548 (GRCm39) missense probably damaging 1.00
IGL01647:Rbm6 APN 9 107,730,081 (GRCm39) missense probably benign 0.13
IGL01872:Rbm6 APN 9 107,660,914 (GRCm39) missense probably damaging 0.99
IGL02402:Rbm6 APN 9 107,730,051 (GRCm39) missense probably damaging 1.00
IGL03024:Rbm6 APN 9 107,664,567 (GRCm39) missense probably damaging 0.97
IGL03025:Rbm6 APN 9 107,651,918 (GRCm39) missense possibly damaging 0.76
FR4737:Rbm6 UTSW 9 107,659,954 (GRCm39) frame shift probably null
G1Funyon:Rbm6 UTSW 9 107,729,993 (GRCm39) missense probably damaging 1.00
PIT4402001:Rbm6 UTSW 9 107,665,049 (GRCm39) missense probably damaging 1.00
R0511:Rbm6 UTSW 9 107,724,488 (GRCm39) nonsense probably null
R1666:Rbm6 UTSW 9 107,669,055 (GRCm39) missense probably benign 0.15
R1927:Rbm6 UTSW 9 107,730,102 (GRCm39) missense probably damaging 1.00
R2262:Rbm6 UTSW 9 107,668,289 (GRCm39) missense probably damaging 1.00
R2439:Rbm6 UTSW 9 107,656,796 (GRCm39) missense probably damaging 1.00
R2566:Rbm6 UTSW 9 107,669,197 (GRCm39) missense possibly damaging 0.60
R2878:Rbm6 UTSW 9 107,729,649 (GRCm39) missense probably damaging 1.00
R4342:Rbm6 UTSW 9 107,724,446 (GRCm39) intron probably benign
R4783:Rbm6 UTSW 9 107,730,102 (GRCm39) missense probably damaging 1.00
R4785:Rbm6 UTSW 9 107,664,551 (GRCm39) missense probably benign 0.06
R5205:Rbm6 UTSW 9 107,665,542 (GRCm39) missense probably benign 0.08
R5253:Rbm6 UTSW 9 107,729,856 (GRCm39) missense probably damaging 1.00
R5279:Rbm6 UTSW 9 107,655,213 (GRCm39) missense probably benign 0.00
R5356:Rbm6 UTSW 9 107,729,865 (GRCm39) missense probably damaging 1.00
R6289:Rbm6 UTSW 9 107,655,147 (GRCm39) missense probably damaging 1.00
R6328:Rbm6 UTSW 9 107,664,458 (GRCm39) missense probably benign 0.00
R6564:Rbm6 UTSW 9 107,710,697 (GRCm39) missense probably damaging 1.00
R6887:Rbm6 UTSW 9 107,729,430 (GRCm39) missense probably damaging 1.00
R6978:Rbm6 UTSW 9 107,729,774 (GRCm39) splice site probably null
R7139:Rbm6 UTSW 9 107,730,410 (GRCm39) missense probably damaging 1.00
R7240:Rbm6 UTSW 9 107,730,095 (GRCm39) missense probably damaging 1.00
R7330:Rbm6 UTSW 9 107,668,244 (GRCm39) missense possibly damaging 0.77
R7397:Rbm6 UTSW 9 107,729,718 (GRCm39) missense probably benign
R7590:Rbm6 UTSW 9 107,668,949 (GRCm39) critical splice donor site probably null
R7829:Rbm6 UTSW 9 107,729,905 (GRCm39) missense probably damaging 1.00
R8301:Rbm6 UTSW 9 107,729,993 (GRCm39) missense probably damaging 1.00
R8405:Rbm6 UTSW 9 107,730,016 (GRCm39) missense probably benign 0.01
R8784:Rbm6 UTSW 9 107,665,337 (GRCm39) missense possibly damaging 0.71
R8935:Rbm6 UTSW 9 107,677,945 (GRCm39) missense probably benign 0.02
R9036:Rbm6 UTSW 9 107,660,911 (GRCm39) missense probably damaging 1.00
R9095:Rbm6 UTSW 9 107,669,089 (GRCm39) nonsense probably null
R9227:Rbm6 UTSW 9 107,664,498 (GRCm39) missense probably benign
R9276:Rbm6 UTSW 9 107,660,926 (GRCm39) missense probably damaging 1.00
R9482:Rbm6 UTSW 9 107,669,208 (GRCm39) missense possibly damaging 0.60
R9656:Rbm6 UTSW 9 107,656,778 (GRCm39) missense probably damaging 0.99
Z1191:Rbm6 UTSW 9 107,655,171 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACATGTTCTGAGCCAAGGG -3'
(R):5'- GTCCAGTTCAAGAACAAGATAAGCC -3'

Sequencing Primer
(F):5'- CTCAATTACAGAATTTCCTTTTGCG -3'
(R):5'- CCAAAGCTTTCTGGAGGTGAAC -3'
Posted On 2014-10-02