Incidental Mutation 'IGL02938:Zfyve19'
ID364434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve19
Ensembl Gene ENSMUSG00000068580
Gene Namezinc finger, FYVE domain containing 19
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.412) question?
Stock #IGL02938
Quality Score
Status
Chromosome2
Chromosomal Location119208617-119217049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119211518 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 156 (V156A)
Ref Sequence ENSEMBL: ENSMUSP00000099577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000090174] [ENSMUST00000102519]
Predicted Effect probably benign
Transcript: ENSMUST00000038439
SMART Domains Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278

DomainStartEndE-ValueType
DnaJ 10 68 3.66e-21 SMART
coiled coil region 112 151 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
Pfam:RRM_1 187 243 1.8e-6 PFAM
Pfam:RRM_5 194 246 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090174
AA Change: V156A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: V156A

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
low complexity region 325 335 N/A INTRINSIC
PDB:2D8V|A 336 389 2e-35 PDB
Blast:RING 339 380 7e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000102519
AA Change: V156A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: V156A

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,362,229 T1152A possibly damaging Het
Adgra3 T C 5: 49,961,317 D963G probably benign Het
Adrm1 T A 2: 180,175,602 D287E probably damaging Het
Agxt A G 1: 93,145,109 D396G probably damaging Het
Ankle1 C T 8: 71,406,252 A43V probably damaging Het
Apc A G 18: 34,315,228 I1692V probably damaging Het
Arhgef18 T C 8: 3,450,802 V588A probably benign Het
Ccdc62 T A 5: 123,934,184 V4E probably benign Het
Cdh16 A T 8: 104,616,929 probably benign Het
Cr2 A T 1: 195,166,388 C276S probably damaging Het
Cyp2c29 T A 19: 39,287,123 D2E probably damaging Het
Ddx31 T A 2: 28,859,023 V277E possibly damaging Het
Defa35 C T 8: 21,065,914 probably benign Het
Dhx9 A T 1: 153,464,630 D707E probably benign Het
Dnmt1 A G 9: 20,941,373 S28P probably benign Het
Dock5 A T 14: 67,757,218 probably benign Het
Dpp6 T C 5: 27,723,367 probably benign Het
Egln1 A G 8: 124,914,015 probably null Het
Esr1 T A 10: 4,783,872 M224K probably damaging Het
Flt1 A G 5: 147,678,299 I279T possibly damaging Het
Fzd6 T C 15: 39,033,890 I478T probably benign Het
Glb1l3 A G 9: 26,826,759 V368A probably benign Het
Gltpd2 T C 11: 70,519,811 F5S probably damaging Het
Helz G A 11: 107,686,438 E1872K unknown Het
Irak3 A G 10: 120,182,524 probably null Het
Itsn2 A T 12: 4,697,216 I1206F probably damaging Het
Lingo3 A T 10: 80,835,154 V314E probably benign Het
Lrrc8a C T 2: 30,255,686 R171W probably damaging Het
Lsg1 T C 16: 30,571,206 T364A probably benign Het
Mks1 T C 11: 87,862,652 probably null Het
Mov10l1 T A 15: 88,988,526 F89Y probably damaging Het
Myo1b A C 1: 51,801,178 probably null Het
Myo1h T C 5: 114,358,939 Y819H probably damaging Het
Nedd1 G A 10: 92,689,657 Q597* probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1431 A G 19: 12,209,682 T39A probably benign Het
Pbrm1 T C 14: 31,067,804 S792P probably damaging Het
Pccb T C 9: 100,984,396 N457S probably benign Het
Plekho2 T C 9: 65,558,620 E162G possibly damaging Het
Pou1f1 A T 16: 65,523,544 T40S probably benign Het
Pwwp2b T C 7: 139,256,143 V500A probably damaging Het
Pygo1 C T 9: 72,944,738 A69V probably damaging Het
Slc18a3 A C 14: 32,463,815 Y204D probably damaging Het
Stab2 A G 10: 86,871,921 V261A possibly damaging Het
Tacc2 A T 7: 130,728,941 K208N probably damaging Het
Tbc1d4 T C 14: 101,501,100 D403G probably damaging Het
Tbc1d9 T A 8: 83,269,067 probably benign Het
Tdrkh T C 3: 94,429,350 probably benign Het
Tktl2 T A 8: 66,512,330 L180H probably damaging Het
Tm4sf19 T A 16: 32,405,915 L27Q probably damaging Het
Tmtc2 A G 10: 105,413,296 V192A probably damaging Het
Ttn C A 2: 76,712,984 M33219I probably damaging Het
Vmn1r52 A T 6: 90,179,313 M200L possibly damaging Het
Vmn2r114 T A 17: 23,291,289 H739L probably benign Het
Wdr20rt T C 12: 65,225,918 F52L probably benign Het
Zbtb38 C T 9: 96,687,174 G619D probably benign Het
Other mutations in Zfyve19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Zfyve19 APN 2 119216500 nonsense probably null
IGL01369:Zfyve19 APN 2 119210613 splice site probably benign
IGL02387:Zfyve19 APN 2 119216426 unclassified probably benign
IGL02623:Zfyve19 APN 2 119212015 critical splice donor site probably null
IGL02904:Zfyve19 APN 2 119210472 splice site probably benign
IGL03190:Zfyve19 APN 2 119216236 missense probably damaging 0.98
R0653:Zfyve19 UTSW 2 119211215 missense probably benign 0.00
R0835:Zfyve19 UTSW 2 119210785 missense probably benign 0.41
R1709:Zfyve19 UTSW 2 119210819 missense probably damaging 0.96
R1824:Zfyve19 UTSW 2 119211535 missense probably benign 0.00
R1938:Zfyve19 UTSW 2 119211212 missense probably benign
R3699:Zfyve19 UTSW 2 119211239 missense probably benign 0.03
R4177:Zfyve19 UTSW 2 119216212 missense possibly damaging 0.48
R4191:Zfyve19 UTSW 2 119210831 missense possibly damaging 0.84
R5492:Zfyve19 UTSW 2 119209114 start gained probably benign
R5531:Zfyve19 UTSW 2 119211946 missense probably damaging 0.99
R6349:Zfyve19 UTSW 2 119210597 missense probably damaging 1.00
Posted On2015-12-18