Incidental Mutation 'IGL03070:Yif1a'
ID417476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yif1a
Ensembl Gene ENSMUSG00000024875
Gene NameYip1 interacting factor homolog A (S. cerevisiae)
Synonyms5330422J23Rik, Yif1p, 54TM
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL03070
Quality Score
Status
Chromosome19
Chromosomal Location5088538-5092879 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5088729 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 4 (H4Q)
Ref Sequence ENSEMBL: ENSMUSP00000025811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025805] [ENSMUST00000025811] [ENSMUST00000077066] [ENSMUST00000140389] [ENSMUST00000151413]
Predicted Effect probably benign
Transcript: ENSMUST00000025805
SMART Domains Protein: ENSMUSP00000025805
Gene: ENSMUSG00000024873

DomainStartEndE-ValueType
Pfam:Cornichon 7 151 5.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000025811
AA Change: H4Q

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025811
Gene: ENSMUSG00000024875
AA Change: H4Q

DomainStartEndE-ValueType
Pfam:YIF1 57 286 8.3e-84 PFAM
Pfam:Yip1 113 255 9.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077066
SMART Domains Protein: ENSMUSP00000076321
Gene: ENSMUSG00000061451

DomainStartEndE-ValueType
Pfam:TMEM151 26 373 8.6e-179 PFAM
low complexity region 420 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136372
Predicted Effect probably benign
Transcript: ENSMUST00000140389
Predicted Effect probably benign
Transcript: ENSMUST00000151413
SMART Domains Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fam122a A C 19: 24,476,952 D135E probably damaging Het
Fbxo4 A T 15: 3,977,862 S107T possibly damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Hspbap1 T A 16: 35,818,726 D263E probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Mrps21 A T 3: 95,870,585 probably benign Het
Muc6 A G 7: 141,644,567 probably benign Het
Mup6 A T 4: 60,003,999 I31F probably damaging Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Other mutations in Yif1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Yif1a APN 19 5091597 missense probably benign
IGL03067:Yif1a APN 19 5089785 missense possibly damaging 0.77
R1817:Yif1a UTSW 19 5092305 nonsense probably null
R2027:Yif1a UTSW 19 5089872 missense probably damaging 1.00
R5639:Yif1a UTSW 19 5088750 critical splice donor site probably null
R5942:Yif1a UTSW 19 5091641 missense probably damaging 1.00
R6360:Yif1a UTSW 19 5092341 missense probably benign
R6524:Yif1a UTSW 19 5092176 missense probably damaging 1.00
R7378:Yif1a UTSW 19 5089790 missense possibly damaging 0.83
R7976:Yif1a UTSW 19 5089787 missense probably damaging 1.00
Z1177:Yif1a UTSW 19 5091587 frame shift probably null
Posted On2016-08-02