Incidental Mutation 'R5362:5530400C23Rik'
ID422868
Institutional Source Beutler Lab
Gene Symbol 5530400C23Rik
Ensembl Gene ENSMUSG00000055594
Gene NameRIKEN cDNA 5530400C23 gene
Synonyms
MMRRC Submission 043264-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #R5362 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location133292216-133295792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133294482 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 163 (D163V)
Ref Sequence ENSEMBL: ENSMUSP00000035635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048459]
Predicted Effect probably benign
Transcript: ENSMUST00000048459
AA Change: D163V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594
AA Change: D163V

DomainStartEndE-ValueType
Pfam:Pro-rich 1 163 5.2e-13 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik G T 2: 148,783,378 L77F probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Ankrd17 G A 5: 90,265,545 A1170V probably damaging Het
Ano1 A C 7: 144,648,600 probably benign Het
Atl2 T C 17: 79,861,461 N37D probably damaging Het
C2cd5 T C 6: 143,083,243 Y90C probably damaging Het
Carm1 A G 9: 21,587,359 N499S probably benign Het
Ccdc47 G A 11: 106,208,213 probably null Het
Cd300lf G T 11: 115,117,114 L251M probably damaging Het
Cfap74 A G 4: 155,438,166 S670G probably damaging Het
Clec4a1 A G 6: 122,932,237 D188G probably damaging Het
Col4a1 T C 8: 11,245,760 probably benign Het
Csn2 T A 5: 87,694,649 H165L probably benign Het
Dlx3 T C 11: 95,120,500 V60A possibly damaging Het
Fam196b G A 11: 34,402,788 E277K probably damaging Het
Fam221a A G 6: 49,376,115 H21R probably damaging Het
Foxj3 T A 4: 119,620,143 H349Q unknown Het
Gm37240 G A 3: 84,515,693 T123I probably damaging Het
Gpc1 A T 1: 92,854,893 T121S probably benign Het
Ikbkap A C 4: 56,778,969 I616S probably damaging Het
Itga2b A G 11: 102,461,135 V512A probably damaging Het
Itgae A G 11: 73,111,849 Y144C probably damaging Het
Izumo3 A T 4: 92,146,800 I60K possibly damaging Het
Kif9 G A 9: 110,489,944 V159M probably damaging Het
Lrp1b T C 2: 41,375,902 D229G probably damaging Het
Nkpd1 G A 7: 19,523,268 G324D probably damaging Het
Nrp2 T A 1: 62,769,062 Y617N probably benign Het
Ocm T C 5: 144,023,856 D91G probably damaging Het
Olfr600 A G 7: 103,346,247 V227A probably damaging Het
Olfr667 A G 7: 104,916,627 I223T probably damaging Het
Olfr724 A G 14: 49,960,529 L181P possibly damaging Het
Olfr814 T C 10: 129,874,553 E68G probably damaging Het
Pex5l G A 3: 32,992,916 A295V probably damaging Het
Plekhg4 T A 8: 105,381,398 V1029E possibly damaging Het
Pou2f2 G A 7: 25,092,895 P512S probably benign Het
Prpf8 G A 11: 75,506,410 R2023Q possibly damaging Het
Ptprd A T 4: 76,128,813 S399R probably damaging Het
Qrich2 T C 11: 116,447,150 Y1889C probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Ranbp6 G T 19: 29,811,728 T408K probably benign Het
Scn7a G A 2: 66,699,998 R668C probably damaging Het
Sertad4 T C 1: 192,847,106 N134S probably damaging Het
Spg11 G T 2: 122,061,000 N1963K probably damaging Het
Svil C T 18: 5,057,345 P598S probably damaging Het
Top2a T C 11: 99,018,912 N120S probably damaging Het
Trappc9 C T 15: 73,058,217 E97K possibly damaging Het
Vmn1r91 A T 7: 20,101,461 T102S probably benign Het
Vmn2r99 G T 17: 19,379,339 M428I probably benign Het
Zfp62 A T 11: 49,216,612 H510L probably damaging Het
Other mutations in 5530400C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:5530400C23Rik APN 6 133294497 missense probably benign
IGL01018:5530400C23Rik APN 6 133294498 missense probably benign
IGL02383:5530400C23Rik APN 6 133292242 utr 5 prime probably benign
R0066:5530400C23Rik UTSW 6 133292324 splice site probably benign
R0105:5530400C23Rik UTSW 6 133294314 missense probably benign 0.32
R0468:5530400C23Rik UTSW 6 133294458 missense probably benign 0.25
R0600:5530400C23Rik UTSW 6 133293211 splice site probably benign
R1523:5530400C23Rik UTSW 6 133294293 missense possibly damaging 0.85
R3418:5530400C23Rik UTSW 6 133294119 missense probably benign 0.32
R3419:5530400C23Rik UTSW 6 133294119 missense probably benign 0.32
R6160:5530400C23Rik UTSW 6 133294326 missense possibly damaging 0.85
R7733:5530400C23Rik UTSW 6 133294277 missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- GAGCATTGTGACTCCACTGG -3'
(R):5'- GACTTTGTACTGTCTGAATGCTAAG -3'

Sequencing Primer
(F):5'- GAGCATTGTGACTCCACTGGAAAAC -3'
(R):5'- TGCTAAGATTTGAAATGAGGCC -3'
Posted On2016-08-04