Incidental Mutation 'R5531:Zfyve19'
ID 433680
Institutional Source Beutler Lab
Gene Symbol Zfyve19
Ensembl Gene ENSMUSG00000068580
Gene Name zinc finger, FYVE domain containing 19
Synonyms 1500041L05Rik
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119039098-119047530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119042427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 178 (T178M)
Ref Sequence ENSEMBL: ENSMUSP00000099577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000090174] [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 damaging
Transcript: ENSMUST00000090174
AA Change: T178M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: T178M

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 damaging
Transcript: ENSMUST00000102519
AA Change: T178M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: T178M

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: ENSMUST00000154185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149036
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript 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
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
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'- ATACTCAGTCCTGTTGGGAGC -3'
(R):5'- CCCTCAGTAAACAGAAGGTCTTTTG -3'

Sequencing Primer
(F):5'- GACCGACTCACCTATGTGGACTTG -3'
(R):5'- AACAGAAGGTCTTTTGTGCTGAC -3'
Posted On 2016-10-06