Incidental Mutation 'R6608:Rbm26'
ID 526436
Institutional Source Beutler Lab
Gene Symbol Rbm26
Ensembl Gene ENSMUSG00000022119
Gene Name RNA binding motif protein 26
Synonyms C230097K14Rik, 1700009P03Rik, Pro1777
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.585) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 105344187-105414763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105389934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 230 (N230I)
Ref Sequence ENSEMBL: ENSMUSP00000128197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022715] [ENSMUST00000100327] [ENSMUST00000163499] [ENSMUST00000163545]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022715
AA Change: N230I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: N230I

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 probably damaging
Transcript: ENSMUST00000100327
AA Change: N230I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: N230I

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 probably damaging
Transcript: ENSMUST00000163499
AA Change: N230I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: N230I

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 probably damaging
Transcript: ENSMUST00000163545
AA Change: N230I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: N230I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging 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
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
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'- ACACCGTTTCTTTGGCATTG -3'
(R):5'- TACTTTCTGCACTTTGATCAGTGAGC -3'

Sequencing Primer
(F):5'- GCATTGGTGGCCTTACATAAGAG -3'
(R):5'- GCACTTTGATCAGTGAGCTATGAAG -3'
Posted On 2018-06-25