Incidental Mutation 'IGL01404:Zfyve9'
ID 79741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve9
Ensembl Gene ENSMUSG00000034557
Gene Name zinc finger, FYVE domain containing 9
Synonyms Madhip
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # IGL01404
Quality Score
Status
Chromosome 4
Chromosomal Location 108494663-108637995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108539348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 975 (Y975S)
Ref Sequence ENSEMBL: ENSMUSP00000102268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042185] [ENSMUST00000106657] [ENSMUST00000106658]
AlphaFold A2A8R0
Predicted Effect probably damaging
Transcript: ENSMUST00000042185
AA Change: Y284S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: Y284S

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: Y975S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: Y975S

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 possibly damaging
Transcript: ENSMUST00000106658
AA Change: Y916S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: Y916S

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,211,152 (GRCm39) probably null Het
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Adam2 C T 14: 66,314,659 (GRCm39) probably null Het
Adgre4 A T 17: 56,104,639 (GRCm39) N235I possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
B430306N03Rik A G 17: 48,628,101 (GRCm39) Y177C probably damaging Het
Cast A T 13: 74,886,406 (GRCm39) Y249* probably null Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa4 T C 6: 30,581,701 (GRCm39) I216T possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 (GRCm39) D413G probably damaging Het
Cyb5a A G 18: 84,895,985 (GRCm39) S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
Erbin A T 13: 103,975,972 (GRCm39) S641T probably damaging Het
Espn T A 4: 152,222,901 (GRCm39) T326S probably benign Het
Extl1 T C 4: 134,086,514 (GRCm39) M514V probably benign Het
Fancc G A 13: 63,509,452 (GRCm39) L134F probably damaging Het
Fis1 C T 5: 136,994,828 (GRCm39) A90V probably benign Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kcp C A 6: 29,496,638 (GRCm39) C624F probably damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mib2 T A 4: 155,739,393 (GRCm39) E862V probably damaging Het
Myh1 G T 11: 67,112,977 (GRCm39) R1827L possibly damaging Het
Myh10 T C 11: 68,642,866 (GRCm39) probably null Het
Myo1e A G 9: 70,245,048 (GRCm39) Y382C probably benign Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,706 (GRCm39) I559T probably damaging Het
Nod2 A T 8: 89,390,364 (GRCm39) M224L probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or52n4 A T 7: 104,293,687 (GRCm39) Y295* probably null Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Pex7 G T 10: 19,770,557 (GRCm39) probably benign Het
Ptprb A T 10: 116,175,341 (GRCm39) D1112V probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sec14l2 T C 11: 4,066,710 (GRCm39) D34G possibly damaging Het
Serpina3k A G 12: 104,306,882 (GRCm39) D38G probably benign Het
Sh3bgr A C 16: 96,007,690 (GRCm39) K18N probably damaging Het
Sh3bp5l A T 11: 58,236,886 (GRCm39) H281L probably benign Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
Slc2a1 T A 4: 118,989,435 (GRCm39) M45K possibly damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Trabd2b A G 4: 114,457,153 (GRCm39) I357V probably benign Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r103 A G 17: 20,032,696 (GRCm39) I823M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Vwa3b C T 1: 37,193,117 (GRCm39) T11I probably benign Het
Vwf A C 6: 125,654,933 (GRCm39) Q2543P probably damaging Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Other mutations in Zfyve9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Zfyve9 APN 4 108,499,304 (GRCm39) missense possibly damaging 0.85
IGL01161:Zfyve9 APN 4 108,538,261 (GRCm39) missense probably damaging 1.00
IGL01451:Zfyve9 APN 4 108,539,457 (GRCm39) missense probably damaging 0.98
IGL01655:Zfyve9 APN 4 108,499,289 (GRCm39) missense probably damaging 1.00
IGL02567:Zfyve9 APN 4 108,531,720 (GRCm39) missense probably damaging 1.00
IGL02593:Zfyve9 APN 4 108,539,420 (GRCm39) missense possibly damaging 0.73
IGL03169:Zfyve9 APN 4 108,553,022 (GRCm39) missense probably damaging 1.00
IGL03206:Zfyve9 APN 4 108,546,406 (GRCm39) missense possibly damaging 0.88
IGL03288:Zfyve9 APN 4 108,580,996 (GRCm39) splice site probably benign
R0008:Zfyve9 UTSW 4 108,575,902 (GRCm39) missense possibly damaging 0.92
R0008:Zfyve9 UTSW 4 108,575,902 (GRCm39) missense possibly damaging 0.92
R0104:Zfyve9 UTSW 4 108,575,360 (GRCm39) missense probably damaging 1.00
R0104:Zfyve9 UTSW 4 108,575,360 (GRCm39) missense probably damaging 1.00
R0362:Zfyve9 UTSW 4 108,538,166 (GRCm39) missense probably damaging 0.96
R0502:Zfyve9 UTSW 4 108,576,961 (GRCm39) nonsense probably null
R0503:Zfyve9 UTSW 4 108,576,961 (GRCm39) nonsense probably null
R0557:Zfyve9 UTSW 4 108,531,708 (GRCm39) missense probably damaging 0.98
R0835:Zfyve9 UTSW 4 108,575,866 (GRCm39) missense probably damaging 0.99
R1215:Zfyve9 UTSW 4 108,507,426 (GRCm39) missense probably benign 0.32
R1245:Zfyve9 UTSW 4 108,550,508 (GRCm39) intron probably benign
R1527:Zfyve9 UTSW 4 108,552,964 (GRCm39) critical splice donor site probably null
R1638:Zfyve9 UTSW 4 108,542,104 (GRCm39) critical splice donor site probably null
R1653:Zfyve9 UTSW 4 108,517,774 (GRCm39) nonsense probably null
R1728:Zfyve9 UTSW 4 108,575,698 (GRCm39) missense possibly damaging 0.80
R1729:Zfyve9 UTSW 4 108,575,698 (GRCm39) missense possibly damaging 0.80
R1861:Zfyve9 UTSW 4 108,539,492 (GRCm39) splice site probably benign
R1983:Zfyve9 UTSW 4 108,546,386 (GRCm39) missense possibly damaging 0.94
R2050:Zfyve9 UTSW 4 108,576,500 (GRCm39) missense possibly damaging 0.94
R2050:Zfyve9 UTSW 4 108,575,800 (GRCm39) missense probably benign 0.05
R2246:Zfyve9 UTSW 4 108,546,461 (GRCm39) missense possibly damaging 0.70
R2338:Zfyve9 UTSW 4 108,517,811 (GRCm39) missense probably damaging 1.00
R2697:Zfyve9 UTSW 4 108,553,016 (GRCm39) missense probably damaging 0.99
R3522:Zfyve9 UTSW 4 108,576,940 (GRCm39) missense probably benign 0.45
R4030:Zfyve9 UTSW 4 108,576,898 (GRCm39) missense possibly damaging 0.61
R4247:Zfyve9 UTSW 4 108,576,389 (GRCm39) missense probably benign 0.28
R4273:Zfyve9 UTSW 4 108,538,173 (GRCm39) missense probably damaging 1.00
R4720:Zfyve9 UTSW 4 108,501,565 (GRCm39) missense possibly damaging 0.94
R4835:Zfyve9 UTSW 4 108,575,195 (GRCm39) missense possibly damaging 0.70
R4871:Zfyve9 UTSW 4 108,538,183 (GRCm39) missense probably damaging 1.00
R4881:Zfyve9 UTSW 4 108,584,688 (GRCm39) splice site probably null
R4974:Zfyve9 UTSW 4 108,538,097 (GRCm39) critical splice donor site probably null
R5024:Zfyve9 UTSW 4 108,548,866 (GRCm39) missense probably benign 0.18
R5481:Zfyve9 UTSW 4 108,501,546 (GRCm39) missense probably damaging 1.00
R5660:Zfyve9 UTSW 4 108,576,365 (GRCm39) missense probably benign
R5965:Zfyve9 UTSW 4 108,548,878 (GRCm39) missense possibly damaging 0.53
R5996:Zfyve9 UTSW 4 108,576,557 (GRCm39) missense probably benign 0.07
R6315:Zfyve9 UTSW 4 108,531,685 (GRCm39) missense probably damaging 1.00
R6772:Zfyve9 UTSW 4 108,496,466 (GRCm39) missense probably damaging 1.00
R6865:Zfyve9 UTSW 4 108,501,558 (GRCm39) missense possibly damaging 0.71
R7112:Zfyve9 UTSW 4 108,507,519 (GRCm39) missense probably benign 0.00
R7258:Zfyve9 UTSW 4 108,514,151 (GRCm39) missense possibly damaging 0.94
R7266:Zfyve9 UTSW 4 108,575,744 (GRCm39) missense possibly damaging 0.62
R7287:Zfyve9 UTSW 4 108,575,453 (GRCm39) missense probably benign 0.00
R7356:Zfyve9 UTSW 4 108,576,212 (GRCm39) missense probably benign 0.01
R7389:Zfyve9 UTSW 4 108,550,515 (GRCm39) critical splice donor site probably null
R7729:Zfyve9 UTSW 4 108,548,973 (GRCm39) missense probably benign 0.01
R7780:Zfyve9 UTSW 4 108,576,298 (GRCm39) missense possibly damaging 0.81
R7801:Zfyve9 UTSW 4 108,542,192 (GRCm39) missense possibly damaging 0.50
R8069:Zfyve9 UTSW 4 108,542,215 (GRCm39) missense probably benign 0.32
R8201:Zfyve9 UTSW 4 108,507,474 (GRCm39) missense possibly damaging 0.83
R8221:Zfyve9 UTSW 4 108,576,877 (GRCm39) missense possibly damaging 0.77
R8682:Zfyve9 UTSW 4 108,576,539 (GRCm39) missense probably benign 0.30
R8948:Zfyve9 UTSW 4 108,499,288 (GRCm39) missense possibly damaging 0.84
R8960:Zfyve9 UTSW 4 108,501,558 (GRCm39) missense possibly damaging 0.71
R9123:Zfyve9 UTSW 4 108,575,760 (GRCm39) missense probably benign 0.30
R9135:Zfyve9 UTSW 4 108,539,386 (GRCm39) nonsense probably null
R9439:Zfyve9 UTSW 4 108,501,538 (GRCm39) missense probably benign 0.33
R9449:Zfyve9 UTSW 4 108,576,435 (GRCm39) missense probably damaging 1.00
R9560:Zfyve9 UTSW 4 108,575,334 (GRCm39) missense possibly damaging 0.82
R9603:Zfyve9 UTSW 4 108,499,288 (GRCm39) missense possibly damaging 0.84
R9657:Zfyve9 UTSW 4 108,575,729 (GRCm39) missense probably damaging 1.00
R9691:Zfyve9 UTSW 4 108,576,305 (GRCm39) missense probably benign
R9717:Zfyve9 UTSW 4 108,539,334 (GRCm39) missense probably benign 0.11
Z1176:Zfyve9 UTSW 4 108,499,404 (GRCm39) missense possibly damaging 0.85
Posted On 2013-11-05