Incidental Mutation 'IGL02623:Zfyve19'
ID300978
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: 0.418) question?
Stock #IGL02623
Quality Score
Status
Chromosome2
Chromosomal Location119208617-119217049 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 119212015 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000090174] [ENSMUST00000090174] [ENSMUST00000102519] [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 null
Transcript: ENSMUST00000090174
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580

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 null
Transcript: ENSMUST00000090174
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580

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 null
Transcript: ENSMUST00000102519
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580

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 probably null
Transcript: ENSMUST00000102519
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zxdc G T 6: 90,382,370 K661N probably damaging 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
IGL02904:Zfyve19 APN 2 119210472 splice site probably benign
IGL02938:Zfyve19 APN 2 119211518 missense 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
R7199:Zfyve19 UTSW 2 119216637 missense probably damaging 1.00
R8947:Zfyve19 UTSW 2 119210809 missense probably damaging 1.00
Posted On2015-04-16