Incidental Mutation 'R5767:AI429214'
ID 446330
Institutional Source Beutler Lab
Gene Symbol AI429214
Ensembl Gene ENSMUSG00000074384
Gene Name expressed sequence AI429214
Synonyms
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5767 (G1)
Quality Score 217
Status Validated
Chromosome 8
Chromosomal Location 37460758-37462687 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCCCTGATGAAC to TC at 37461383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098825]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000098825
SMART Domains Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384

DomainStartEndE-ValueType
low complexity region 72 86 N/A INTRINSIC
Pfam:DUF4606 175 277 3.7e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209814
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gls2 A G 10: 128,041,090 (GRCm39) H394R probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or5k8 T C 16: 58,644,316 (GRCm39) Y252C probably benign Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Pmel T C 10: 128,550,250 (GRCm39) V95A probably damaging Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tmc3 G A 7: 83,249,190 (GRCm39) A260T probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Zc3h8 A T 2: 128,772,812 (GRCm39) C225* probably null Het
Other mutations in AI429214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:AI429214 APN 8 37,461,383 (GRCm39) missense probably damaging 0.98
IGL02508:AI429214 APN 8 37,461,240 (GRCm39) missense probably benign
R0973:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R0973:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R0974:AI429214 UTSW 8 37,461,473 (GRCm39) missense probably benign 0.29
R2007:AI429214 UTSW 8 37,460,923 (GRCm39) missense probably benign 0.29
R2113:AI429214 UTSW 8 37,461,154 (GRCm39) nonsense probably null
R2126:AI429214 UTSW 8 37,461,362 (GRCm39) missense probably benign 0.00
R2254:AI429214 UTSW 8 37,460,920 (GRCm39) missense possibly damaging 0.91
R3409:AI429214 UTSW 8 37,461,071 (GRCm39) missense probably benign 0.00
R3411:AI429214 UTSW 8 37,461,071 (GRCm39) missense probably benign 0.00
R3852:AI429214 UTSW 8 37,461,596 (GRCm39) missense probably damaging 1.00
R4657:AI429214 UTSW 8 37,461,545 (GRCm39) missense probably damaging 1.00
R5766:AI429214 UTSW 8 37,461,383 (GRCm39) frame shift probably null
R6248:AI429214 UTSW 8 37,461,278 (GRCm39) missense probably damaging 1.00
R6888:AI429214 UTSW 8 37,460,987 (GRCm39) missense possibly damaging 0.85
R8018:AI429214 UTSW 8 37,460,820 (GRCm39) start gained probably benign
R8817:AI429214 UTSW 8 37,461,268 (GRCm39) missense probably benign 0.05
R8985:AI429214 UTSW 8 37,460,820 (GRCm39) start gained probably benign
R9564:AI429214 UTSW 8 37,461,067 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CCCTAAGGAATCCGCAGAAG -3'
(R):5'- CCAACACGGGTGAGAAAGTCTG -3'

Sequencing Primer
(F):5'- AAGAACTGGATGCCCTGC -3'
(R):5'- CTCTTGGAGTAGTAGTGACTGCAG -3'
Posted On 2016-11-21