Incidental Mutation 'R1927:Rbm6'
ID 214958
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 039945-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R1927 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107650758-107750436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107730102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 182 (D182A)
Ref Sequence ENSEMBL: ENSMUSP00000138400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195883] [ENSMUST00000195866]
AlphaFold S4R1W5
Predicted Effect probably damaging
Transcript: ENSMUST00000035201
AA Change: D50A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: D50A

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 probably damaging
Transcript: ENSMUST00000183032
AA Change: D182A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: D182A

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: ENSMUST00000192474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193957
Predicted Effect probably benign
Transcript: ENSMUST00000195883
SMART Domains Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

DomainStartEndE-ValueType
Blast:ZnF_RBZ 24 48 9e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195866
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,613,338 (GRCm39) S31P probably damaging Het
Abca12 G T 1: 71,283,999 (GRCm39) H2524Q probably damaging Het
Acsl5 T C 19: 55,266,586 (GRCm39) V135A probably benign Het
Actl11 T G 9: 107,806,736 (GRCm39) L353R possibly damaging Het
Adcy6 G T 15: 98,496,379 (GRCm39) probably null Het
B230104I21Rik A G 4: 154,425,694 (GRCm39) I697T probably damaging Het
BC061237 G A 14: 44,738,700 (GRCm39) R33K possibly damaging Het
Brf1 C A 12: 112,963,964 (GRCm39) V5F possibly damaging Het
Chmp2a C T 7: 12,767,863 (GRCm39) A21T possibly damaging Het
Cwh43 A G 5: 73,610,417 (GRCm39) N607S probably benign Het
Ddhd2 G A 8: 26,231,688 (GRCm39) L445F possibly damaging Het
Dicer1 C A 12: 104,669,143 (GRCm39) D1180Y possibly damaging Het
Dnaaf4 A T 9: 72,867,909 (GRCm39) I57L probably damaging Het
Dock5 A T 14: 68,083,511 (GRCm39) S133T possibly damaging Het
Efs A T 14: 55,154,620 (GRCm39) C540S possibly damaging Het
Ehd4 C T 2: 119,921,973 (GRCm39) G428S probably benign Het
Eml1 C T 12: 108,504,476 (GRCm39) R812* probably null Het
Enpp1 C T 10: 24,530,786 (GRCm39) D557N possibly damaging Het
Fn3krp A G 11: 121,315,803 (GRCm39) T65A probably damaging Het
Galnt5 A G 2: 57,888,615 (GRCm39) R72G probably benign Het
Gfod1 C T 13: 43,354,336 (GRCm39) R213H possibly damaging Het
Gm10518 A G 1: 179,631,210 (GRCm39) probably benign Het
Gm5431 A G 11: 48,780,082 (GRCm39) F558S probably damaging Het
Got1 C T 19: 43,504,119 (GRCm39) probably null Het
Gucy2g C T 19: 55,226,191 (GRCm39) V242I probably benign Het
Hdgfl2 T A 17: 56,406,874 (GRCm39) V606E possibly damaging Het
Hoxa3 T C 6: 52,146,979 (GRCm39) probably benign Het
Iqub T A 6: 24,491,670 (GRCm39) I339L probably benign Het
Kdm4c C T 4: 74,263,720 (GRCm39) T668I probably benign Het
Klhl32 T C 4: 24,617,474 (GRCm39) I592V probably benign Het
Mfsd12 G T 10: 81,197,921 (GRCm39) M296I probably benign Het
Mfsd4b4 C T 10: 39,768,437 (GRCm39) A219T probably damaging Het
Mrpl52 T C 14: 54,664,414 (GRCm39) S9P possibly damaging Het
Nbr1 A G 11: 101,458,040 (GRCm39) Y273C possibly damaging Het
Ncf4 G T 15: 78,144,846 (GRCm39) G217V probably damaging Het
Neo1 T C 9: 58,897,668 (GRCm39) E96G probably benign Het
Nid2 T A 14: 19,818,344 (GRCm39) N279K probably damaging Het
Nr5a2 A G 1: 136,872,732 (GRCm39) Y56H probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nynrin A G 14: 56,101,049 (GRCm39) T280A probably benign Het
Or1o2 A G 17: 37,542,434 (GRCm39) Y276H probably damaging Het
Or2b28 T A 13: 21,531,116 (GRCm39) I6N probably benign Het
Or2w2 A G 13: 21,758,426 (GRCm39) F67L probably benign Het
Or55b10 A G 7: 102,143,266 (GRCm39) S239P possibly damaging Het
Or5b109 T C 19: 13,212,393 (GRCm39) Y260H probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Ptprn A G 1: 75,230,766 (GRCm39) V565A probably benign Het
Rhbg A G 3: 88,151,859 (GRCm39) F400L probably benign Het
Rpl22l1 T A 3: 28,860,738 (GRCm39) N33K possibly damaging Het
Rtp1 T A 16: 23,249,959 (GRCm39) I108N probably damaging Het
Sema6b A T 17: 56,439,797 (GRCm39) F15I probably benign Het
Sirpa C T 2: 129,458,296 (GRCm39) T304I possibly damaging Het
Slc22a29 A G 19: 8,184,430 (GRCm39) I257T probably benign Het
Slc41a1 T C 1: 131,768,938 (GRCm39) I256T probably damaging Het
Smg6 A G 11: 75,033,674 (GRCm39) K1208R probably damaging Het
Sorcs1 G T 19: 50,210,633 (GRCm39) P744Q probably damaging Het
Sptbn5 T C 2: 119,900,943 (GRCm39) T213A probably benign Het
St18 A G 1: 6,872,936 (GRCm39) T224A probably benign Het
Stat3 T C 11: 100,785,655 (GRCm39) N465S probably damaging Het
Stmn2 T A 3: 8,610,636 (GRCm39) M40K probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Thrb T A 14: 18,008,674 (GRCm38) C133S probably damaging Het
Tmem25 C T 9: 44,707,780 (GRCm39) V172M possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trhde T A 10: 114,636,754 (GRCm39) Y151F probably damaging Het
Trp53bp2 A G 1: 182,280,229 (GRCm39) T912A probably damaging Het
Unc79 C A 12: 103,135,951 (GRCm39) A2269E probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp758 T G 17: 22,594,823 (GRCm39) S436R probably damaging Het
Zfp791 G T 8: 85,837,312 (GRCm39) T184K probably benign Het
Znrf3 A G 11: 5,231,062 (GRCm39) V817A probably benign 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
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
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'- CAGTAGTAGCTGAACCTCGG -3'
(R):5'- AGCACAGTTGGACTTCAGG -3'

Sequencing Primer
(F):5'- GGCCTCTAAAGTCCACCTGTG -3'
(R):5'- CTTCAGGAACAGGGACATACATTCTG -3'
Posted On 2014-07-14