Incidental Mutation 'R3427:Rbm26'
ID 267934
Institutional Source Beutler Lab
Gene Symbol Rbm26
Ensembl Gene ENSMUSG00000022119
Gene Name RNA binding motif protein 26
Synonyms C230097K14Rik, 1700009P03Rik, Pro1777
MMRRC Submission 040645-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.585) question?
Stock # R3427 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 105344187-105414763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105368968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 737 (V737A)
Ref Sequence ENSEMBL: ENSMUSP00000022715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022715] [ENSMUST00000100327] [ENSMUST00000163499] [ENSMUST00000163545] [ENSMUST00000172122]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022715
AA Change: V737A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: V737A

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: V713A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: V713A

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: V742A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: V742A

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: V739A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: V739A

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
Predicted Effect probably benign
Transcript: ENSMUST00000172122
SMART Domains Protein: ENSMUSP00000126804
Gene: ENSMUSG00000022119

DomainStartEndE-ValueType
Blast:RRM_2 1 46 3e-6 BLAST
low complexity region 74 105 N/A INTRINSIC
Pfam:RRM_1 125 180 1.1e-5 PFAM
Pfam:RRM_5 132 184 1.7e-9 PFAM
low complexity region 196 206 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T A 9: 107,806,969 (GRCm39) F431I probably damaging Het
Asb18 C T 1: 89,896,315 (GRCm39) G242S probably damaging Het
Atp13a3 T C 16: 30,163,411 (GRCm39) I582V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bsph1 T C 7: 13,206,168 (GRCm39) Y78H probably damaging Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Cps1 T A 1: 67,213,653 (GRCm39) V795E probably damaging Het
Crhr1 A G 11: 104,064,419 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctbp2 A T 7: 132,593,321 (GRCm39) H793Q probably damaging Het
Cul5 T C 9: 53,529,190 (GRCm39) M805V probably benign Het
Dctn3 T C 4: 41,719,858 (GRCm39) K83E probably damaging Het
Ep300 A G 15: 81,485,480 (GRCm39) N156D unknown Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Exosc2 T C 2: 31,569,900 (GRCm39) L237P probably damaging Het
Fiz1 A G 7: 5,015,708 (GRCm39) F94S probably damaging Het
Gm5422 A G 10: 31,124,842 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,873 (GRCm39) F1280S probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kcnh1 T C 1: 191,924,238 (GRCm39) F151L probably benign Het
Nudc C T 4: 133,261,568 (GRCm39) G239S probably benign Het
Or6c215 T C 10: 129,637,720 (GRCm39) K225E possibly damaging Het
Plekhb1 T C 7: 100,294,857 (GRCm39) Y172C probably damaging Het
Plscr4 T C 9: 92,370,797 (GRCm39) S255P probably damaging Het
Rps6ka4 C A 19: 6,815,123 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rttn G A 18: 89,113,775 (GRCm39) probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Strip1 T C 3: 107,524,138 (GRCm39) H593R possibly damaging Het
Sycp1 A T 3: 102,783,666 (GRCm39) C603S probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc1 C T 9: 95,614,249 (GRCm39) R5Q probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S 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
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
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'- TGTCTCCAGCTCCAATACTAAGG -3'
(R):5'- AGGTCAAACTGGAAGGTTCG -3'

Sequencing Primer
(F):5'- TCTCCAGCTCCAATACTAAGGAATAC -3'
(R):5'- GTCAAACTGGAAGGTTCGATCTTC -3'
Posted On 2015-02-18