Incidental Mutation 'R3605:Yif1b'
ID 269048
Institutional Source Beutler Lab
Gene Symbol Yif1b
Ensembl Gene ENSMUSG00000030588
Gene Name Yip1 interacting factor homolog B (S. cerevisiae)
Synonyms 9430029K10Rik
MMRRC Submission 040670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R3605 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28937754-28947022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28937835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 7 (A7V)
Ref Sequence ENSEMBL: ENSMUSP00000103873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]
AlphaFold Q9CX30
Predicted Effect possibly damaging
Transcript: ENSMUST00000032809
AA Change: A7V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588
AA Change: A7V

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 benign
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 possibly damaging
Transcript: ENSMUST00000108238
AA Change: A7V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588
AA Change: A7V

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 0.1060 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 95% (40/42)
Allele List at MGI

All alleles(19) : Targeted(3) Gene trapped(16)
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 C T 3: 96,589,497 (GRCm39) Q239* probably null Het
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Art2b T A 7: 101,229,152 (GRCm39) N249I probably benign Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cd200r1 A G 16: 44,609,939 (GRCm39) T53A possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Crb1 T A 1: 139,165,077 (GRCm39) T1016S probably damaging Het
Esrrg A G 1: 187,943,299 (GRCm39) H424R possibly damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Flrt3 T A 2: 140,503,287 (GRCm39) N114Y probably damaging Het
Fsip2 T C 2: 82,815,253 (GRCm39) V3662A probably benign Het
Gabra6 T A 11: 42,205,777 (GRCm39) I359F probably benign Het
Gal A G 19: 3,464,026 (GRCm39) probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5814 G T 17: 47,721,430 (GRCm39) R48L probably damaging Het
Hcn1 G A 13: 118,111,788 (GRCm39) G584D unknown Het
Iqgap1 T C 7: 80,373,537 (GRCm39) D1484G probably benign Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lrrc8d G A 5: 105,974,873 (GRCm39) C93Y unknown Het
Mnt T A 11: 74,727,746 (GRCm39) S211T possibly damaging Het
Mtdh T A 15: 34,114,258 (GRCm39) probably benign Het
Nxt1 T C 2: 148,517,399 (GRCm39) W47R probably damaging Het
Or4f59 T A 2: 111,873,168 (GRCm39) I70F probably benign Het
Or5k3 T C 16: 58,969,846 (GRCm39) I211T probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rpap2 A G 5: 107,768,395 (GRCm39) D411G probably damaging Het
Sapcd1 A G 17: 35,246,781 (GRCm39) F36L probably damaging Het
Svep1 A T 4: 58,066,542 (GRCm39) S3181T probably benign Het
Tgfbr2 G A 9: 115,938,960 (GRCm39) T314I probably benign Het
Thbs4 G T 13: 92,894,467 (GRCm39) C685* probably null Het
Tk2 A G 8: 104,957,803 (GRCm39) V181A possibly damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Ttn C T 2: 76,661,788 (GRCm39) probably null Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Zfp738 A T 13: 67,819,508 (GRCm39) L151* probably null Het
Other mutations in Yif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Yif1b APN 7 28,937,873 (GRCm39) splice site probably null
P0027:Yif1b UTSW 7 28,938,038 (GRCm39) critical splice donor site probably null
R3607:Yif1b UTSW 7 28,937,835 (GRCm39) missense possibly damaging 0.85
R5244:Yif1b UTSW 7 28,943,866 (GRCm39) missense probably damaging 1.00
R5432:Yif1b UTSW 7 28,945,393 (GRCm39) missense probably damaging 0.99
R6221:Yif1b UTSW 7 28,945,207 (GRCm39) missense possibly damaging 0.71
R7779:Yif1b UTSW 7 28,945,328 (GRCm39) missense probably damaging 1.00
R7856:Yif1b UTSW 7 28,944,045 (GRCm39) missense possibly damaging 0.59
R8090:Yif1b UTSW 7 28,943,726 (GRCm39) missense probably benign 0.44
R8749:Yif1b UTSW 7 28,946,690 (GRCm39) missense probably benign 0.07
T0722:Yif1b UTSW 7 28,938,038 (GRCm39) critical splice donor site probably null
U24488:Yif1b UTSW 7 28,943,594 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTATGTAAGCCGACGCCCAC -3'
(R):5'- TTTTAAAGAACCTACCCGCGATG -3'

Sequencing Primer
(F):5'- GCCCACTCAACCAGGCTG -3'
(R):5'- TACCCGGACTTGGCATCC -3'
Posted On 2015-02-19