Incidental Mutation 'R5873:4921524L21Rik'
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ID455349
Institutional Source Beutler Lab
Gene Symbol 4921524L21Rik
Ensembl Gene ENSMUSG00000039540
Gene NameRIKEN cDNA 4921524L21 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R5873 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location6603633-6638966 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 6630167 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044829]
Predicted Effect probably null
Transcript: ENSMUST00000044829
SMART Domains Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540

DomainStartEndE-ValueType
Pfam:DUF3496 131 235 6.9e-12 PFAM
coiled coil region 269 292 N/A INTRINSIC
low complexity region 408 419 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,426,220 K216* probably null Het
5330417H12Rik T C 7: 107,624,768 probably benign Het
Abcc4 G T 14: 118,526,290 D1044E probably benign Het
Adgre4 A G 17: 55,852,282 T656A probably benign Het
Ankk1 T C 9: 49,415,896 N661S probably benign Het
Asah2 A G 19: 32,003,682 probably null Het
Asxl3 A G 18: 22,516,085 D377G probably benign Het
C3ar1 A G 6: 122,850,422 S279P probably benign Het
C7 A G 15: 5,005,235 V610A probably damaging Het
Cacna2d3 C A 14: 29,720,934 A48S probably benign Het
Card11 T A 5: 140,908,638 I79F probably damaging Het
Casc3 A G 11: 98,821,444 Y103C unknown Het
Cass4 G T 2: 172,426,768 V259L probably benign Het
Col14a1 A G 15: 55,445,786 probably benign Het
Cox10 A G 11: 64,071,686 S110P probably benign Het
Cpt1b T C 15: 89,420,728 Y439C probably damaging Het
Crybb2 C T 5: 113,065,893 probably null Het
Cyp2b23 C T 7: 26,675,006 R271H probably benign Het
Dnah17 T C 11: 118,056,897 I3039V probably benign Het
Dnpep T C 1: 75,315,143 D242G probably damaging Het
Dock10 T A 1: 80,574,138 N660I probably damaging Het
Esco2 T C 14: 65,824,191 D471G probably benign Het
Evpl A T 11: 116,234,432 L97H probably damaging Het
Exoc3l4 A T 12: 111,423,416 I142F probably damaging Het
Fry C A 5: 150,378,885 P519Q probably damaging Het
Gal3st2 T A 1: 93,873,750 F92I probably benign Het
Galm A G 17: 80,138,103 E94G probably benign Het
Gfy T G 7: 45,177,580 H364P probably damaging Het
Helz2 A G 2: 181,234,028 S1558P possibly damaging Het
Hmmr T A 11: 40,707,700 Q600L probably damaging Het
Hnrnph3 A G 10: 63,019,391 probably null Het
Igkv4-90 T A 6: 68,807,469 N21I probably benign Het
Kpna1 A G 16: 36,014,228 probably benign Het
Krt28 A C 11: 99,366,890 L375R probably damaging Het
Lrrn1 T C 6: 107,568,975 V578A probably damaging Het
Lta4h T C 10: 93,469,190 probably null Het
Matk T A 10: 81,260,129 V166E probably benign Het
Muc4 C A 16: 32,751,295 T391K possibly damaging Het
Mybl1 T A 1: 9,685,665 T220S possibly damaging Het
Nrp1 T C 8: 128,468,377 V438A probably damaging Het
Olfr1371 A T 11: 52,213,353 L212Q probably damaging Het
Olfr414 T A 1: 174,430,782 M118K possibly damaging Het
Pdia4 A T 6: 47,808,176 W86R probably damaging Het
Pdzd7 T A 19: 45,027,949 D911V probably damaging Het
Pkd1 A G 17: 24,569,830 Q854R probably benign Het
Ppl A G 16: 5,106,049 probably null Het
Ppp1r26 A G 2: 28,451,605 T416A probably benign Het
Prdm15 T C 16: 97,808,689 D585G probably damaging Het
Rbak A G 5: 143,173,711 V529A probably benign Het
Rc3h1 C T 1: 160,959,501 T822I probably damaging Het
Slc25a18 A T 6: 120,786,281 probably null Het
Taf2 T C 15: 55,038,422 N792S probably benign Het
Tat T C 8: 109,991,949 probably null Het
Tbx21 A T 11: 97,114,648 probably null Het
Txndc11 A G 16: 11,075,205 L887P probably damaging Het
Usp10 A G 8: 119,947,092 T399A possibly damaging Het
Vmn2r26 A T 6: 124,061,674 H736L probably benign Het
Vstm2a T A 11: 16,258,044 F13I probably damaging Het
Zkscan5 A G 5: 145,220,394 R496G possibly damaging Het
Zranb2 C T 3: 157,536,383 R36* probably null Het
Other mutations in 4921524L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:4921524L21Rik APN 18 6629578 missense possibly damaging 0.93
IGL01402:4921524L21Rik APN 18 6638653 missense possibly damaging 0.65
IGL01404:4921524L21Rik APN 18 6638653 missense possibly damaging 0.65
IGL02680:4921524L21Rik APN 18 6635949 splice site probably benign
R0532:4921524L21Rik UTSW 18 6638618 missense possibly damaging 0.83
R1069:4921524L21Rik UTSW 18 6624037 missense probably benign 0.01
R1706:4921524L21Rik UTSW 18 6624059 splice site probably benign
R1768:4921524L21Rik UTSW 18 6623470 missense possibly damaging 0.72
R1912:4921524L21Rik UTSW 18 6620205 missense possibly damaging 0.72
R3820:4921524L21Rik UTSW 18 6630166 critical splice donor site probably null
R3840:4921524L21Rik UTSW 18 6620104 missense probably benign 0.44
R3841:4921524L21Rik UTSW 18 6620104 missense probably benign 0.44
R4201:4921524L21Rik UTSW 18 6623952 critical splice acceptor site probably null
R4852:4921524L21Rik UTSW 18 6623487 missense possibly damaging 0.91
R4852:4921524L21Rik UTSW 18 6623488 missense probably damaging 0.99
R5218:4921524L21Rik UTSW 18 6629628 missense possibly damaging 0.63
R5389:4921524L21Rik UTSW 18 6638795 missense probably benign 0.14
R5428:4921524L21Rik UTSW 18 6635918 missense probably benign 0.04
R6120:4921524L21Rik UTSW 18 6638795 missense possibly damaging 0.85
R6345:4921524L21Rik UTSW 18 6626399 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TGGGTAGAGGAGTCCTGCAT -3'
(R):5'- GCAGTTGGCATTATTCTTACTGTA -3'

Sequencing Primer
(F):5'- GTAGAGGAGTCCTGCATTATTTTAAG -3'
(R):5'- TGGGATTTCAACTCAGGACC -3'
Posted On2017-02-10