Incidental Mutation 'R4177:Zfyve19'
ID 319543
Institutional Source Beutler Lab
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 # R4177 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119039098-119047530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119046693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 296 (T296A)
Ref Sequence ENSEMBL: ENSMUSP00000099577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076084] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000110820]
AlphaFold Q9DAZ9
Predicted Effect probably benign
Transcript: ENSMUST00000076084
SMART Domains Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 146 1.3e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090174
AA Change: T296A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: T296A

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 possibly damaging
Transcript: ENSMUST00000102519
AA Change: T296A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: T296A

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 benign
Transcript: ENSMUST00000110820
SMART Domains Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 100 2.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153349
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aicda A T 6: 122,538,043 (GRCm39) D67V probably benign Het
Arhgap32 A G 9: 32,158,510 (GRCm39) R182G probably null Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bscl2 A G 19: 8,817,120 (GRCm39) D16G possibly damaging Het
Celsr2 A G 3: 108,321,294 (GRCm39) V506A probably damaging Het
Cenpf T A 1: 189,400,816 (GRCm39) Q441L possibly damaging Het
Crebbp A T 16: 3,937,663 (GRCm39) M700K possibly damaging Het
Dhcr7 A G 7: 143,394,910 (GRCm39) Y142C probably damaging Het
Dnajc2 A G 5: 21,962,394 (GRCm39) M602T probably benign Het
Dysf C T 6: 84,044,013 (GRCm39) R254* probably null Het
Ednra A C 8: 78,401,677 (GRCm39) I204M possibly damaging Het
Fabp2 A G 3: 122,690,547 (GRCm39) T77A possibly damaging Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Gnb1 T C 4: 155,625,113 (GRCm39) probably benign Het
Gpc2 T C 5: 138,275,621 (GRCm39) probably benign Het
Kmt2a T C 9: 44,732,280 (GRCm39) probably benign Het
Lypla2 T C 4: 135,696,403 (GRCm39) probably benign Het
Maf A T 8: 116,433,210 (GRCm39) Y131* probably null Het
Mfsd4a T A 1: 131,968,295 (GRCm39) H335L probably damaging Het
Mrgpra9 A G 7: 46,885,302 (GRCm39) Y122H probably damaging Het
Myo10 A T 15: 25,734,137 (GRCm39) Q342L possibly damaging Het
N4bp2 A G 5: 65,955,513 (GRCm39) probably null Het
Or5t15 A T 2: 86,681,745 (GRCm39) M99K possibly damaging Het
Pomt1 A G 2: 32,138,689 (GRCm39) N435S probably damaging Het
Pram1 A G 17: 33,860,203 (GRCm39) I257V probably benign Het
Rab9 G T X: 165,241,296 (GRCm39) S5* probably null Het
Ralgapa2 A T 2: 146,327,083 (GRCm39) Y59N probably damaging Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Rps6kc1 G A 1: 190,532,616 (GRCm39) T462M possibly damaging Het
Selenoo C T 15: 88,983,662 (GRCm39) probably benign Het
Sptb G C 12: 76,659,953 (GRCm39) D982E probably benign Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubald1 A G 16: 4,693,745 (GRCm39) probably benign Het
Ube2d1 T C 10: 71,094,033 (GRCm39) K101R probably damaging Het
Unc5cl A G 17: 48,769,298 (GRCm39) T261A probably benign Het
Zcwpw1 G T 5: 137,798,395 (GRCm39) K197N probably damaging Het
Zfp268 T C 4: 145,347,225 (GRCm39) L43S 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
IGL02623:Zfyve19 APN 2 119,042,496 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGGTGTCTTGACATAGGA -3'
(R):5'- GACTACAGAGATGGAGCCGT -3'

Sequencing Primer
(F):5'- CCTGTGTTCTACCAGAAGCATGG -3'
(R):5'- CATCTCTGCCTTGCAGG -3'
Posted On 2015-06-10