Incidental Mutation 'R3605:Yif1b'
ID269048
Institutional Source Beutler Lab
Gene Symbol Yif1b
Ensembl Gene ENSMUSG00000030588
Gene NameYip1 interacting factor homolog B (S. cerevisiae)
Synonyms9430029K10Rik
MMRRC Submission 040670-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 #R3605 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location29238329-29247597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 29238410 bp
ZygosityHeterozygous
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]
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: 96,682,181 Q239* probably null Het
Arid4b T C 13: 14,120,241 V36A probably damaging Het
Art2b T A 7: 101,579,945 N249I probably benign Het
Bpifb1 T A 2: 154,211,565 N242K possibly damaging Het
Cd200r1 A G 16: 44,789,576 T53A possibly damaging Het
Cracr2b C T 7: 141,466,146 P370S possibly damaging Het
Crb1 T A 1: 139,237,339 T1016S probably damaging Het
Esrrg A G 1: 188,211,102 H424R possibly damaging Het
Fgfrl1 C A 5: 108,705,423 T213K probably damaging Het
Flrt3 T A 2: 140,661,367 N114Y probably damaging Het
Fsip2 T C 2: 82,984,909 V3662A probably benign Het
Gabra6 T A 11: 42,314,950 I359F probably benign Het
Gal A G 19: 3,414,026 probably null Het
Gm10801 G C 2: 98,664,007 R143T possibly damaging Het
Gm5814 G T 17: 47,410,505 R48L probably damaging Het
Hcn1 G A 13: 117,975,252 G584D unknown Het
Iqgap1 T C 7: 80,723,789 D1484G probably benign Het
Kmt2a G A 9: 44,849,196 T485M probably damaging Het
Kprp C A 3: 92,824,281 Q487H unknown Het
Lctl T C 9: 64,133,193 Y473H probably damaging Het
Lrrc8d G A 5: 105,827,007 C93Y unknown Het
Mnt T A 11: 74,836,920 S211T possibly damaging Het
Mtdh T A 15: 34,114,112 probably benign Het
Nxt1 T C 2: 148,675,479 W47R probably damaging Het
Olfr1312 T A 2: 112,042,823 I70F probably benign Het
Olfr195 T C 16: 59,149,483 I211T probably damaging Het
Plekha7 T C 7: 116,164,242 D313G possibly damaging Het
Ranbp10 A G 8: 105,776,035 S300P probably benign Het
Rbl1 A T 2: 157,177,233 F531I probably damaging Het
Rpap2 A G 5: 107,620,529 D411G probably damaging Het
Sapcd1 A G 17: 35,027,805 F36L probably damaging Het
Svep1 A T 4: 58,066,542 S3181T probably benign Het
Tgfbr2 G A 9: 116,109,892 T314I probably benign Het
Thbs4 G T 13: 92,757,959 C685* probably null Het
Tk2 A G 8: 104,231,171 V181A possibly damaging Het
Traf2 T C 2: 25,530,415 T141A probably benign Het
Ttn C T 2: 76,831,444 probably null Het
Ube3c A G 5: 29,598,938 T180A possibly damaging Het
Zfp738 A T 13: 67,671,389 L151* probably null Het
Other mutations in Yif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Yif1b APN 7 29238448 splice site probably null
P0027:Yif1b UTSW 7 29238613 critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- TTATGTAAGCCGACGCCCAC -3'
(R):5'- TTTTAAAGAACCTACCCGCGATG -3'

Sequencing Primer
(F):5'- GCCCACTCAACCAGGCTG -3'
(R):5'- TACCCGGACTTGGCATCC -3'
Posted On2015-02-19