Incidental Mutation 'P0027:Yif1b'
ID8108
Institutional Source Beutler Lab
Gene Symbol Yif1b
Ensembl Gene ENSMUSG00000030588
Gene NameYip1 interacting factor homolog B (S. cerevisiae)
Synonyms9430029K10Rik
MMRRC Submission 038280-MU
Accession Numbers

Ncbi RefSeq: NM_029887.3, NM_001110201.1; MGI:1924504

Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #P0027 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location29238329-29247597 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 29238613 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]
Predicted Effect probably benign
Transcript: ENSMUST00000032809
SMART Domains Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 45 65 N/A INTRINSIC
Pfam:YIF1 72 304 5.7e-86 PFAM
Pfam:Yip1 110 282 7.9e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108237
SMART Domains Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 37 57 N/A INTRINSIC
Pfam:YIF1 64 176 3.9e-48 PFAM
Pfam:YIF1 169 244 2.5e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108237
SMART Domains Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 37 57 N/A INTRINSIC
Pfam:YIF1 64 176 3.9e-48 PFAM
Pfam:YIF1 169 244 2.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108238
SMART Domains Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
Pfam:YIF1 66 303 5.4e-107 PFAM
Pfam:Yip1 107 279 7.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138128
SMART Domains Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588

DomainStartEndE-ValueType
low complexity region 42 62 N/A INTRINSIC
low complexity region 100 110 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142519
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 72.9%
  • 10x: 45.3%
  • 20x: 23.4%
Validation Efficiency 93% (53/57)
Allele List at MGI

All alleles(19) : Targeted(3) Gene trapped(16)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Kdm2a C T 19: 4,343,245 probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Lims1 A G 10: 58,418,455 N344D probably benign Het
Marco A T 1: 120,474,712 W502R probably damaging Het
Ms4a10 T C 19: 10,964,128 D159G probably damaging Het
Msi2 A T 11: 88,394,597 M207K probably damaging Het
Myh15 C T 16: 49,081,208 T249I possibly damaging Het
Nap1l5 T A 6: 58,906,825 N48I probably damaging Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Phactr4 G C 4: 132,371,090 T252R probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Other mutations in Yif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Yif1b APN 7 29238448 splice site probably null
R3605:Yif1b UTSW 7 29238410 missense possibly damaging 0.85
R3607:Yif1b UTSW 7 29238410 missense possibly damaging 0.85
R5244:Yif1b UTSW 7 29244441 missense probably damaging 1.00
R5432:Yif1b UTSW 7 29245968 missense probably damaging 0.99
R6221:Yif1b UTSW 7 29245782 missense possibly damaging 0.71
R7779:Yif1b UTSW 7 29245903 missense probably damaging 1.00
R7856:Yif1b UTSW 7 29244620 missense possibly damaging 0.59
R7939:Yif1b UTSW 7 29244620 missense possibly damaging 0.59
T0722:Yif1b UTSW 7 29238613 critical splice donor site probably null
U24488:Yif1b UTSW 7 29244169 missense probably benign 0.00
Protein Function and Prediction

Yif1B is homologous to Yif1p (1), a protein in yeast that functions in vesicular trafficking between the endoplasmic reticulum (ER) and the Golgi apparatus (2).  In mammals, it was shown that Yif1B is involved in ER/Golgi trafficking and is involved in targeting of 5-HT1AR to the neuronal dendrites (1).

Expression/Localization

Yif1B is highly expressed in raphe 5-HT1AR-expressing neurons of the brain (1).  Yif1B is colocalized with 5-HT1AR in small vesicles involved in transient intracellular trafficking (1).

References
Posted On2012-11-20
Science WriterAnne Murray