Incidental Mutation 'IGL03169:Zfyve9'
ID411770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve9
Ensembl Gene ENSMUSG00000034557
Gene Namezinc finger, FYVE domain containing 9
SynonymsMadhip
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.545) question?
Stock #IGL03169
Quality Score
Status
Chromosome4
Chromosomal Location108637466-108780798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108695825 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 713 (Y713C)
Ref Sequence ENSEMBL: ENSMUSP00000102269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042185] [ENSMUST00000106657] [ENSMUST00000106658]
Predicted Effect probably damaging
Transcript: ENSMUST00000042185
AA Change: Y22C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: Y22C

DomainStartEndE-ValueType
Blast:FYVE 7 40 4e-7 BLAST
Pfam:SARA 52 92 1e-25 PFAM
Pfam:DUF3480 328 681 1.4e-189 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106657
AA Change: Y713C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: Y713C

DomainStartEndE-ValueType
low complexity region 230 243 N/A INTRINSIC
low complexity region 471 487 N/A INTRINSIC
low complexity region 578 587 N/A INTRINSIC
Blast:FYVE 590 618 7e-6 BLAST
FYVE 663 731 2.38e-26 SMART
Pfam:SARA 745 783 1.3e-22 PFAM
Pfam:DUF3480 1020 1372 1e-178 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106658
AA Change: Y713C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: Y713C

DomainStartEndE-ValueType
low complexity region 230 243 N/A INTRINSIC
low complexity region 471 487 N/A INTRINSIC
low complexity region 578 587 N/A INTRINSIC
Blast:FYVE 590 618 8e-6 BLAST
FYVE 663 731 2.38e-26 SMART
Pfam:DUF3480 960 1313 5.5e-189 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 83,931,995 I548F probably damaging Het
Adgrv1 T A 13: 81,503,900 Q2995L probably damaging Het
Capn9 T C 8: 124,605,877 I485T probably damaging Het
Ccdc17 T A 4: 116,597,760 I197N probably damaging Het
Chl1 T A 6: 103,665,967 L222Q probably damaging Het
Ctla4 T C 1: 60,914,605 probably benign Het
Cyp2d12 T C 15: 82,559,291 S485P probably benign Het
Ddx50 A T 10: 62,621,387 probably null Het
Dlgap4 C A 2: 156,711,018 probably null Het
Dpysl4 G A 7: 139,099,910 probably null Het
Erbin T C 13: 103,841,232 M606V possibly damaging Het
Fat4 T G 3: 38,957,398 S2216A probably benign Het
Frem2 T C 3: 53,522,292 N2779S probably benign Het
Fut1 T C 7: 45,619,033 V82A probably benign Het
Gnb1l C T 16: 18,540,455 A2V probably damaging Het
Hdac1 C T 4: 129,518,831 E327K probably null Het
Hdlbp A G 1: 93,416,587 V819A possibly damaging Het
Ift122 T C 6: 115,905,961 probably benign Het
Iqgap2 T C 13: 95,731,277 probably null Het
Kntc1 T C 5: 123,775,821 V613A possibly damaging Het
Lamb1 T C 12: 31,323,646 V1458A probably damaging Het
Lef1 A G 3: 131,194,663 K265R probably damaging Het
Lrp2 T C 2: 69,523,194 D574G probably damaging Het
Mterf2 C T 10: 85,120,460 R100H probably benign Het
Nr1d2 C T 14: 18,216,703 R155Q probably damaging Het
Obscn T C 11: 59,073,296 T3304A probably damaging Het
Olfr1251 A G 2: 89,667,487 I133T possibly damaging Het
Olfr137 G T 17: 38,305,101 S120Y probably damaging Het
Os9 G A 10: 127,098,594 T391M probably benign Het
Parp6 C A 9: 59,650,017 Y131* probably null Het
Plxdc1 T C 11: 97,932,320 E358G possibly damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Ptprc A T 1: 138,113,619 S167R probably benign Het
Rad54l2 T C 9: 106,719,064 D225G probably benign Het
Rgs7 T C 1: 175,270,835 I53V possibly damaging Het
Rpa1 T C 11: 75,301,357 D607G probably damaging Het
Shisa5 T A 9: 109,056,492 H213Q probably damaging Het
Syncrip A G 9: 88,456,443 probably benign Het
Taf4b T G 18: 14,821,535 V556G probably damaging Het
Tgif1 A C 17: 70,844,841 S258R possibly damaging Het
Tmem106a T C 11: 101,590,458 probably benign Het
Vmn1r113 A T 7: 20,788,087 H268L probably benign Het
Vmn1r40 A T 6: 89,715,023 Q274L probably damaging Het
Wdr70 A C 15: 7,884,340 I609M possibly damaging Het
Wdr91 G A 6: 34,905,491 S241L possibly damaging Het
Other mutations in Zfyve9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Zfyve9 APN 4 108642107 missense possibly damaging 0.85
IGL01161:Zfyve9 APN 4 108681064 missense probably damaging 1.00
IGL01404:Zfyve9 APN 4 108682151 missense probably damaging 1.00
IGL01451:Zfyve9 APN 4 108682260 missense probably damaging 0.98
IGL01655:Zfyve9 APN 4 108642092 missense probably damaging 1.00
IGL02567:Zfyve9 APN 4 108674523 missense probably damaging 1.00
IGL02593:Zfyve9 APN 4 108682223 missense possibly damaging 0.73
IGL03206:Zfyve9 APN 4 108689209 missense possibly damaging 0.88
IGL03288:Zfyve9 APN 4 108723799 splice site probably benign
R0008:Zfyve9 UTSW 4 108718705 missense possibly damaging 0.92
R0008:Zfyve9 UTSW 4 108718705 missense possibly damaging 0.92
R0104:Zfyve9 UTSW 4 108718163 missense probably damaging 1.00
R0104:Zfyve9 UTSW 4 108718163 missense probably damaging 1.00
R0362:Zfyve9 UTSW 4 108680969 missense probably damaging 0.96
R0502:Zfyve9 UTSW 4 108719764 nonsense probably null
R0503:Zfyve9 UTSW 4 108719764 nonsense probably null
R0557:Zfyve9 UTSW 4 108674511 missense probably damaging 0.98
R0835:Zfyve9 UTSW 4 108718669 missense probably damaging 0.99
R1215:Zfyve9 UTSW 4 108650229 missense probably benign 0.32
R1245:Zfyve9 UTSW 4 108693311 intron probably benign
R1527:Zfyve9 UTSW 4 108695767 critical splice donor site probably null
R1638:Zfyve9 UTSW 4 108684907 critical splice donor site probably null
R1653:Zfyve9 UTSW 4 108660577 nonsense probably null
R1728:Zfyve9 UTSW 4 108718501 missense possibly damaging 0.80
R1729:Zfyve9 UTSW 4 108718501 missense possibly damaging 0.80
R1861:Zfyve9 UTSW 4 108682295 splice site probably benign
R1983:Zfyve9 UTSW 4 108689189 missense possibly damaging 0.94
R2050:Zfyve9 UTSW 4 108718603 missense probably benign 0.05
R2050:Zfyve9 UTSW 4 108719303 missense possibly damaging 0.94
R2246:Zfyve9 UTSW 4 108689264 missense possibly damaging 0.70
R2338:Zfyve9 UTSW 4 108660614 missense probably damaging 1.00
R2697:Zfyve9 UTSW 4 108695819 missense probably damaging 0.99
R3522:Zfyve9 UTSW 4 108719743 missense probably benign 0.45
R4030:Zfyve9 UTSW 4 108719701 missense possibly damaging 0.61
R4247:Zfyve9 UTSW 4 108719192 missense probably benign 0.28
R4273:Zfyve9 UTSW 4 108680976 missense probably damaging 1.00
R4720:Zfyve9 UTSW 4 108644368 missense possibly damaging 0.94
R4835:Zfyve9 UTSW 4 108717998 missense possibly damaging 0.70
R4871:Zfyve9 UTSW 4 108680986 missense probably damaging 1.00
R4881:Zfyve9 UTSW 4 108727491 utr 5 prime probably null
R4974:Zfyve9 UTSW 4 108680900 critical splice donor site probably null
R5024:Zfyve9 UTSW 4 108691669 missense probably benign 0.18
R5481:Zfyve9 UTSW 4 108644349 missense probably damaging 1.00
R5660:Zfyve9 UTSW 4 108719168 missense probably benign
R5965:Zfyve9 UTSW 4 108691681 missense possibly damaging 0.53
R5996:Zfyve9 UTSW 4 108719360 missense probably benign 0.07
R6315:Zfyve9 UTSW 4 108674488 missense probably damaging 1.00
R6772:Zfyve9 UTSW 4 108639269 missense probably damaging 1.00
R6865:Zfyve9 UTSW 4 108644361 missense possibly damaging 0.71
R7112:Zfyve9 UTSW 4 108650322 missense probably benign 0.00
R7258:Zfyve9 UTSW 4 108656954 missense possibly damaging 0.94
R7266:Zfyve9 UTSW 4 108718547 missense possibly damaging 0.62
R7287:Zfyve9 UTSW 4 108718256 missense probably benign 0.00
R7356:Zfyve9 UTSW 4 108719015 missense probably benign 0.01
R7389:Zfyve9 UTSW 4 108693318 critical splice donor site probably null
R7729:Zfyve9 UTSW 4 108691776 missense probably benign 0.01
R7780:Zfyve9 UTSW 4 108719101 missense possibly damaging 0.81
R7801:Zfyve9 UTSW 4 108684995 missense possibly damaging 0.50
Posted On2016-08-02