Incidental Mutation 'R7330:Rbm6'
ID 569187
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 045423-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R7330 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107650758-107750436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107668244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 694 (M694K)
Ref Sequence ENSEMBL: ENSMUSP00000138400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000195883]
AlphaFold S4R1W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000035201
AA Change: M562K

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: M562K

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 possibly damaging
Transcript: ENSMUST00000183032
AA Change: M694K

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: M694K

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
Predicted Effect probably benign
Transcript: ENSMUST00000195883
SMART Domains Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

DomainStartEndE-ValueType
Blast:ZnF_RBZ 24 48 9e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,977,450 (GRCm39) T411A possibly damaging Het
Ace A G 11: 105,876,887 (GRCm39) H1123R probably damaging Het
Acot12 T A 13: 91,889,651 (GRCm39) M1K probably null Het
Actr2 A T 11: 20,022,544 (GRCm39) M309K probably damaging Het
Ahsa2 G T 11: 23,440,558 (GRCm39) T279K probably benign Het
Ak8 A G 2: 28,702,947 (GRCm39) Y437C possibly damaging Het
Atp1a3 T A 7: 24,700,577 (GRCm39) K5* probably null Het
Bbs2 T A 8: 94,814,033 (GRCm39) E195V possibly damaging Het
C4b T A 17: 34,949,446 (GRCm39) Y1505F probably damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Cdh18 G A 15: 23,227,036 (GRCm39) V166I possibly damaging Het
Cep135 T A 5: 76,754,592 (GRCm39) C356* probably null Het
Cilp A T 9: 65,187,527 (GRCm39) R1207S probably benign Het
Clcnkb A G 4: 141,137,923 (GRCm39) I291T possibly damaging Het
Clrn3 G T 7: 135,130,198 (GRCm39) S12Y probably damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cpvl A G 6: 53,951,744 (GRCm39) I13T probably benign Het
Cyp2c68 A G 19: 39,677,634 (GRCm39) I452T probably damaging Het
Dhh A G 15: 98,792,291 (GRCm39) V239A probably damaging Het
Edar T G 10: 58,446,376 (GRCm39) H183P probably damaging Het
Epha2 T A 4: 141,035,764 (GRCm39) S67T probably benign Het
Gapdh A G 6: 125,139,900 (GRCm39) L168P probably benign Het
Grm4 C T 17: 27,653,798 (GRCm39) W717* probably null Het
Gtf3c1 T C 7: 125,303,055 (GRCm39) I127V probably benign Het
Igkv4-72 C T 6: 69,204,087 (GRCm39) A35T probably damaging Het
Il6st T A 13: 112,630,185 (GRCm39) S344T probably benign Het
Ip6k1 A G 9: 107,922,452 (GRCm39) D168G possibly damaging Het
Itpr1 G A 6: 108,415,292 (GRCm39) R1742H probably benign Het
Lat2 T A 5: 134,635,641 (GRCm39) T58S probably damaging Het
Limk2 T C 11: 3,296,311 (GRCm39) K566E probably benign Het
Lonp2 C A 8: 87,358,022 (GRCm39) T81K probably damaging Het
Mdn1 C A 4: 32,723,685 (GRCm39) N2540K probably benign Het
Myt1l T A 12: 29,901,553 (GRCm39) D769E unknown Het
Neb C T 2: 52,079,715 (GRCm39) V5780M possibly damaging Het
Or1j18 T A 2: 36,625,057 (GRCm39) C241* probably null Het
Or5d35 C A 2: 87,855,265 (GRCm39) H66Q possibly damaging Het
Or6c8b C T 10: 128,882,333 (GRCm39) V200M probably damaging Het
Or7g25 T A 9: 19,160,567 (GRCm39) I43F probably benign Het
Pcdhga12 T C 18: 37,901,439 (GRCm39) V757A probably damaging Het
Prpf31 A G 7: 3,642,854 (GRCm39) T448A probably damaging Het
Ropn1l T C 15: 31,451,349 (GRCm39) Y45C Het
Selenbp1 T A 3: 94,847,021 (GRCm39) D182E probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Spef1 G A 2: 131,014,653 (GRCm39) R90W probably damaging Het
Sspo A G 6: 48,452,396 (GRCm39) S2787G probably benign Het
Stox2 A G 8: 47,645,271 (GRCm39) S730P possibly damaging Het
Syne1 T C 10: 5,078,434 (GRCm39) N997S probably benign Het
Tipin A G 9: 64,195,508 (GRCm39) D38G probably benign Het
Tshz1 T A 18: 84,032,956 (GRCm39) K484M probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 A AAGTAC 6: 113,376,125 (GRCm39) probably null Het
Ttn C T 2: 76,747,355 (GRCm39) V4565I probably benign Het
Ubr7 A G 12: 102,741,971 (GRCm39) I402V probably damaging Het
Ucn3 A T 13: 3,991,216 (GRCm39) N145K possibly damaging Het
Utp18 A T 11: 93,772,899 (GRCm39) probably null Het
Utp20 GAA GA 10: 88,623,424 (GRCm39) probably null Het
Vmn1r189 A G 13: 22,286,711 (GRCm39) I42T possibly damaging Het
Vmn2r91 T C 17: 18,326,429 (GRCm39) M238T probably damaging Het
Washc5 G T 15: 59,205,516 (GRCm39) A1125D probably benign Het
Wsb2 A G 5: 117,508,827 (GRCm39) E87G probably damaging Het
Zfat G A 15: 68,084,600 (GRCm39) P97L probably benign Het
Zfp87 T G 13: 74,523,153 (GRCm39) T22P 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
R2173:Rbm6 UTSW 9 107,729,390 (GRCm39) missense possibly damaging 0.79
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
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'- AGTCCCAAAGGAGAGAATTCAC -3'
(R):5'- GCCATTAAGTTCTTGGAGCTTC -3'

Sequencing Primer
(F):5'- CCTTTATAAACTGTGACCAGGGC -3'
(R):5'- GGAGCTTCAAGTTTTATGTCTTTCC -3'
Posted On 2019-09-13