Incidental Mutation 'R3818:Rbm26'
ID 274795
Institutional Source Beutler Lab
Gene Symbol Rbm26
Ensembl Gene ENSMUSG00000022119
Gene Name RNA binding motif protein 26
Synonyms C230097K14Rik, 1700009P03Rik, Pro1777
MMRRC Submission 040772-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.585) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 105344187-105414763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105378706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 594 (L594I)
Ref Sequence ENSEMBL: ENSMUSP00000022715 (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: L594I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: L594I

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: L594I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: L594I

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: L599I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: L599I

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: L599I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: L599I

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 0.1907 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Adra2b G T 2: 127,205,755 (GRCm39) E86* probably null Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Dse T C 10: 34,029,429 (GRCm39) I554V probably benign Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8i2 G A 2: 86,852,054 (GRCm39) T278I probably benign Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript 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
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'- CTGTAGCAAAGCCAAGTGTC -3'
(R):5'- TGGCGTGGTGTACAAAGAAC -3'

Sequencing Primer
(F):5'- CTGTAGCAAAGCCAAGTGTCACATG -3'
(R):5'- TGGCGTGGTGTACAAAGAACAAAAG -3'
Posted On 2015-04-02