Incidental Mutation 'R3607:Yif1b'
ID269112
Institutional Source Beutler Lab
Gene Symbol Yif1b
Ensembl Gene ENSMUSG00000030588
Gene NameYip1 interacting factor homolog B (S. cerevisiae)
Synonyms9430029K10Rik
MMRRC Submission 040671-MU
Accession Numbers

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

Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R3607 (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: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (48/49)
Allele List at MGI

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

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik C A 9: 53,279,783 noncoding transcript Het
Adnp2 A T 18: 80,129,069 N708K probably damaging Het
Arhgef17 C A 7: 100,931,172 G190W probably damaging Het
Aspm T A 1: 139,480,668 M2431K probably benign Het
Aurkc A G 7: 7,002,860 Y157C probably damaging Het
Bpifb1 T A 2: 154,211,565 N242K possibly damaging Het
Cracr2b C T 7: 141,466,146 P370S possibly damaging Het
Etv1 A G 12: 38,831,086 Y66C probably damaging Het
F830016B08Rik A T 18: 60,300,708 K288* probably null Het
Fam131a C T 16: 20,701,595 P181L probably damaging Het
Fat2 T A 11: 55,281,685 E2734V probably damaging Het
Fgfrl1 C A 5: 108,705,423 T213K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably benign Het
Gmfg T A 7: 28,441,536 probably null Het
Gtpbp8 T C 16: 44,743,756 Y184C probably damaging Het
Heatr5b T C 17: 78,834,217 E2G probably damaging Het
Itpr2 T G 6: 146,227,601 T2005P probably damaging Het
Kmt2a G A 9: 44,849,196 T485M probably damaging Het
Kng1 T C 16: 23,067,802 F112L probably damaging Het
Kprp C A 3: 92,824,281 Q487H unknown Het
Lctl T C 9: 64,133,193 Y473H probably damaging Het
Lpin2 T A 17: 71,229,392 D225E probably damaging Het
Myom2 T C 8: 15,069,775 V177A probably damaging Het
Nkrf T G X: 36,890,077 N184T probably benign Het
Nt5c1b A G 12: 10,377,236 N329D probably damaging Het
Ogdhl T A 14: 32,335,361 V308E probably damaging Het
Olfr304 A G 7: 86,385,695 C322R probably benign Het
Pcnx T A 12: 81,928,292 F791I probably damaging Het
Prkg2 G T 5: 98,947,377 T616K probably damaging Het
Psmd3 C T 11: 98,690,954 R302W probably damaging Het
Ptpn1 A G 2: 167,975,507 S355G probably benign Het
Pxdn A G 12: 29,990,918 N398D probably benign Het
Ranbp10 A G 8: 105,776,035 S300P probably benign Het
Rbl1 A T 2: 157,177,233 F531I probably damaging Het
Rgl3 A G 9: 21,987,691 S151P probably damaging Het
Rnf213 C A 11: 119,441,976 C2670* probably null Het
Tex16 T A X: 112,093,970 S159T probably damaging Het
Tnfaip3 A G 10: 19,005,602 I312T probably damaging Het
Traf2 T C 2: 25,530,415 T141A probably benign Het
Trpm7 T C 2: 126,796,428 probably benign Het
Usp11 T G X: 20,714,632 F426L probably damaging Het
Vcan G T 13: 89,703,301 T1180K probably damaging Het
Wasf1 G C 10: 40,936,384 A390P unknown 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
R3605: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
R8090:Yif1b UTSW 7 29244301 missense probably benign 0.44
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'- TCTTATGTAAGCCGACGCC -3'
(R):5'- TTAAAGAACCTACCCGCGATGC -3'

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