Incidental Mutation 'R4835:Zfyve9'
ID 373136
Institutional Source Beutler Lab
Gene Symbol Zfyve9
Ensembl Gene ENSMUSG00000034557
Gene Name zinc finger, FYVE domain containing 9
Synonyms Madhip
MMRRC Submission 042450-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R4835 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 108494663-108637995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108575195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 629 (S629A)
Ref Sequence ENSEMBL: ENSMUSP00000102269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042185] [ENSMUST00000106657] [ENSMUST00000106658] [ENSMUST00000178992]
AlphaFold A2A8R0
Predicted Effect probably benign
Transcript: ENSMUST00000042185
SMART Domains Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557

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 benign
Transcript: ENSMUST00000106657
AA Change: S629A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: S629A

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: S629A

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: S629A

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
Predicted Effect probably benign
Transcript: ENSMUST00000178992
SMART Domains Protein: ENSMUSP00000136370
Gene: ENSMUSG00000094958

DomainStartEndE-ValueType
low complexity region 54 74 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 114 148 N/A INTRINSIC
Meta Mutation Damage Score 0.0647 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Abcg5 A T 17: 84,966,076 (GRCm39) M428K possibly damaging Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncapd3 T C 9: 26,997,342 (GRCm39) L1221P probably damaging Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ric1 A G 19: 29,572,936 (GRCm39) N792S possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Scaf4 A G 16: 90,047,195 (GRCm39) M394T unknown Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vps16 T G 2: 130,280,220 (GRCm39) probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K 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
IGL01404:Zfyve9 APN 4 108,539,348 (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
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
Predicted Primers PCR Primer
(F):5'- GTAAACCGAGCTTCACACTTC -3'
(R):5'- TGGTGCAAGACCCAAGCAAC -3'

Sequencing Primer
(F):5'- ACACTTCATGCAGTTTGGAGC -3'
(R):5'- CTTCAGATTCCAAAGCCATTATCAG -3'
Posted On 2016-03-01