Incidental Mutation 'R0051:Rbm26'
ID 64307
Institutional Source Beutler Lab
Gene Symbol Rbm26
Ensembl Gene ENSMUSG00000022119
Gene Name RNA binding motif protein 26
Synonyms C230097K14Rik, 1700009P03Rik, Pro1777
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.585) question?
Stock # R0051 (G1)
Quality Score 167
Status Validated
Chromosome 14
Chromosomal Location 105344187-105414763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 105389976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 216 (V216G)
Ref Sequence ENSEMBL: ENSMUSP00000126414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022715] [ENSMUST00000100327] [ENSMUST00000163499] [ENSMUST00000163545]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022715
AA Change: V216G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: V216G

DomainStartEndE-ValueType
Pfam:PWI 10 80 1.1e-9 PFAM
low complexity region 102 123 N/A INTRINSIC
low complexity region 131 186 N/A INTRINSIC
low complexity region 190 215 N/A INTRINSIC
ZnF_C3H1 289 315 2.61e-4 SMART
low complexity region 330 389 N/A INTRINSIC
low complexity region 394 409 N/A INTRINSIC
RRM 533 602 7.74e-3 SMART
low complexity region 722 735 N/A INTRINSIC
Blast:RRM_2 753 820 6e-19 BLAST
low complexity region 848 879 N/A INTRINSIC
RRM 892 956 2.1e-1 SMART
low complexity region 970 1002 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100327
AA Change: V216G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: V216G

DomainStartEndE-ValueType
Pfam:PWI 10 80 6.1e-10 PFAM
low complexity region 102 123 N/A INTRINSIC
low complexity region 131 186 N/A INTRINSIC
low complexity region 190 215 N/A INTRINSIC
ZnF_C3H1 289 315 2.61e-4 SMART
low complexity region 330 389 N/A INTRINSIC
low complexity region 394 409 N/A INTRINSIC
RRM 533 602 7.74e-3 SMART
low complexity region 698 711 N/A INTRINSIC
Blast:RRM_2 729 796 6e-19 BLAST
low complexity region 824 855 N/A INTRINSIC
RRM 868 932 2.1e-1 SMART
low complexity region 946 978 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163499
AA Change: V216G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: V216G

DomainStartEndE-ValueType
Pfam:PWI 10 80 6.2e-10 PFAM
low complexity region 102 123 N/A INTRINSIC
low complexity region 131 186 N/A INTRINSIC
low complexity region 190 215 N/A INTRINSIC
ZnF_C3H1 289 315 2.61e-4 SMART
low complexity region 330 389 N/A INTRINSIC
low complexity region 394 409 N/A INTRINSIC
RRM 538 607 7.74e-3 SMART
low complexity region 727 740 N/A INTRINSIC
Blast:RRM_2 758 825 6e-19 BLAST
low complexity region 853 884 N/A INTRINSIC
RRM 897 961 2.1e-1 SMART
low complexity region 975 983 N/A INTRINSIC
low complexity region 986 1001 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163545
AA Change: V216G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: V216G

DomainStartEndE-ValueType
Pfam:PWI 11 81 1.5e-11 PFAM
low complexity region 102 123 N/A INTRINSIC
low complexity region 131 186 N/A INTRINSIC
low complexity region 190 215 N/A INTRINSIC
ZnF_C3H1 289 315 2.61e-4 SMART
low complexity region 330 389 N/A INTRINSIC
low complexity region 394 409 N/A INTRINSIC
RRM 538 607 7.74e-3 SMART
low complexity region 724 737 N/A INTRINSIC
Blast:RRM_2 755 822 6e-19 BLAST
low complexity region 850 881 N/A INTRINSIC
RRM 894 958 2.1e-1 SMART
low complexity region 972 1004 N/A INTRINSIC
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 100% (64/64)
Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Abr T A 11: 76,363,328 (GRCm39) Q163L probably benign Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Cimap1a C A 7: 140,430,134 (GRCm39) probably benign Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Dcp2 T A 18: 44,538,441 (GRCm39) probably benign Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dnah7a T G 1: 53,560,245 (GRCm39) probably benign Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Emc1 T A 4: 139,102,474 (GRCm39) M923K possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Impg2 T A 16: 56,078,411 (GRCm39) S458T probably damaging Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Lnx2 A G 5: 146,966,163 (GRCm39) F319L probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrgprb1 A G 7: 48,096,962 (GRCm39) S24P probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Naip1 T C 13: 100,547,509 (GRCm39) E1239G probably damaging Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,325,333 (GRCm39) probably benign Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Scarb1 C A 5: 125,358,164 (GRCm39) probably null Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc12a5 T A 2: 164,828,583 (GRCm39) W508R probably damaging Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stac3 G A 10: 127,344,017 (GRCm39) R305H probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A T 5: 134,588,397 (GRCm39) L184H probably damaging Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Zfp352 T C 4: 90,112,522 (GRCm39) S221P probably damaging Het
Zfp575 A G 7: 24,285,512 (GRCm39) V43A probably benign Het
Zfp775 A G 6: 48,597,706 (GRCm39) T527A probably benign Het
Other mutations in Rbm26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Rbm26 APN 14 105,397,396 (GRCm39) missense unknown
IGL00948:Rbm26 APN 14 105,387,779 (GRCm39) missense probably damaging 1.00
IGL01584:Rbm26 APN 14 105,368,968 (GRCm39) missense probably damaging 0.99
IGL01726:Rbm26 APN 14 105,389,943 (GRCm39) missense probably damaging 0.99
IGL02095:Rbm26 APN 14 105,381,696 (GRCm39) missense probably damaging 1.00
IGL03306:Rbm26 APN 14 105,388,758 (GRCm39) missense probably damaging 0.99
monte UTSW 14 105,380,270 (GRCm39) missense probably benign 0.12
D4043:Rbm26 UTSW 14 105,389,976 (GRCm39) missense possibly damaging 0.59
I0000:Rbm26 UTSW 14 105,391,003 (GRCm39) missense unknown
R0051:Rbm26 UTSW 14 105,389,976 (GRCm39) missense possibly damaging 0.95
R0243:Rbm26 UTSW 14 105,369,374 (GRCm39) missense probably benign 0.22
R0738:Rbm26 UTSW 14 105,414,218 (GRCm39) missense unknown
R1566:Rbm26 UTSW 14 105,397,980 (GRCm39) missense unknown
R1645:Rbm26 UTSW 14 105,388,253 (GRCm39) missense probably damaging 1.00
R1789:Rbm26 UTSW 14 105,354,509 (GRCm39) missense probably benign 0.32
R1809:Rbm26 UTSW 14 105,354,542 (GRCm39) splice site probably benign
R2144:Rbm26 UTSW 14 105,352,638 (GRCm39) nonsense probably null
R2321:Rbm26 UTSW 14 105,390,863 (GRCm39) missense unknown
R2495:Rbm26 UTSW 14 105,388,748 (GRCm39) splice site probably benign
R2906:Rbm26 UTSW 14 105,380,270 (GRCm39) missense probably benign 0.12
R2907:Rbm26 UTSW 14 105,380,270 (GRCm39) missense probably benign 0.12
R2908:Rbm26 UTSW 14 105,380,270 (GRCm39) missense probably benign 0.12
R3034:Rbm26 UTSW 14 105,390,881 (GRCm39) missense unknown
R3427:Rbm26 UTSW 14 105,368,968 (GRCm39) missense probably damaging 0.99
R3818:Rbm26 UTSW 14 105,378,706 (GRCm39) missense probably damaging 0.99
R3863:Rbm26 UTSW 14 105,358,504 (GRCm39) missense probably damaging 0.99
R4448:Rbm26 UTSW 14 105,388,986 (GRCm39) missense probably damaging 0.99
R5022:Rbm26 UTSW 14 105,381,688 (GRCm39) missense probably damaging 1.00
R5040:Rbm26 UTSW 14 105,358,452 (GRCm39) missense probably benign 0.05
R5626:Rbm26 UTSW 14 105,381,667 (GRCm39) missense probably benign 0.43
R5817:Rbm26 UTSW 14 105,366,039 (GRCm39) missense probably damaging 1.00
R5960:Rbm26 UTSW 14 105,387,751 (GRCm39) missense probably damaging 1.00
R6318:Rbm26 UTSW 14 105,368,971 (GRCm39) missense probably damaging 0.99
R6608:Rbm26 UTSW 14 105,389,934 (GRCm39) missense probably damaging 1.00
R6821:Rbm26 UTSW 14 105,354,400 (GRCm39) intron probably benign
R7075:Rbm26 UTSW 14 105,398,043 (GRCm39) missense unknown
R7136:Rbm26 UTSW 14 105,381,703 (GRCm39) missense possibly damaging 0.88
R7340:Rbm26 UTSW 14 105,389,976 (GRCm39) missense possibly damaging 0.86
R7431:Rbm26 UTSW 14 105,354,528 (GRCm39) missense possibly damaging 0.71
R7554:Rbm26 UTSW 14 105,398,029 (GRCm39) missense unknown
R7638:Rbm26 UTSW 14 105,388,284 (GRCm39) missense probably damaging 1.00
R8192:Rbm26 UTSW 14 105,380,125 (GRCm39) critical splice donor site probably null
R8536:Rbm26 UTSW 14 105,380,274 (GRCm39) missense possibly damaging 0.88
R9180:Rbm26 UTSW 14 105,391,039 (GRCm39) missense unknown
RF004:Rbm26 UTSW 14 105,388,931 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGTTATTACCGTGATGAGTAGGAGCA -3'
(R):5'- GGTCTTTACTGGGAAACCTTCTGTGC -3'

Sequencing Primer
(F):5'- CAATGACGGTAATGGTGCTGC -3'
(R):5'- tctcctcccaactccttctc -3'
Posted On 2013-08-06