Incidental Mutation 'IGL02623:Zfyve19'
ID 300978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve19
Ensembl Gene ENSMUSG00000068580
Gene Name zinc finger, FYVE domain containing 19
Synonyms 1500041L05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL02623
Quality Score
Status
Chromosome 2
Chromosomal Location 119039098-119047530 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 119042496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000090174] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000102519]
AlphaFold Q9DAZ9
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: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142644
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging Het
Other mutations in Zfyve19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Zfyve19 APN 2 119,046,981 (GRCm39) nonsense probably null
IGL01369:Zfyve19 APN 2 119,041,094 (GRCm39) splice site probably benign
IGL02387:Zfyve19 APN 2 119,046,907 (GRCm39) unclassified probably benign
IGL02904:Zfyve19 APN 2 119,040,953 (GRCm39) splice site probably benign
IGL02938:Zfyve19 APN 2 119,041,999 (GRCm39) missense probably benign
IGL03190:Zfyve19 APN 2 119,046,717 (GRCm39) missense probably damaging 0.98
R0653:Zfyve19 UTSW 2 119,041,696 (GRCm39) missense probably benign 0.00
R0835:Zfyve19 UTSW 2 119,041,266 (GRCm39) missense probably benign 0.41
R1709:Zfyve19 UTSW 2 119,041,300 (GRCm39) missense probably damaging 0.96
R1824:Zfyve19 UTSW 2 119,042,016 (GRCm39) missense probably benign 0.00
R1938:Zfyve19 UTSW 2 119,041,693 (GRCm39) missense probably benign
R3699:Zfyve19 UTSW 2 119,041,720 (GRCm39) missense probably benign 0.03
R4177:Zfyve19 UTSW 2 119,046,693 (GRCm39) missense possibly damaging 0.48
R4191:Zfyve19 UTSW 2 119,041,312 (GRCm39) missense possibly damaging 0.84
R5492:Zfyve19 UTSW 2 119,039,595 (GRCm39) start gained probably benign
R5531:Zfyve19 UTSW 2 119,042,427 (GRCm39) missense probably damaging 0.99
R6349:Zfyve19 UTSW 2 119,041,078 (GRCm39) missense probably damaging 1.00
R7199:Zfyve19 UTSW 2 119,047,118 (GRCm39) missense probably damaging 1.00
R8947:Zfyve19 UTSW 2 119,041,290 (GRCm39) missense probably damaging 1.00
R9100:Zfyve19 UTSW 2 119,041,718 (GRCm39) missense probably benign 0.27
R9130:Zfyve19 UTSW 2 119,045,330 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16