Incidental Mutation 'R0835:Zfyve19'
ID 77790
Institutional Source Beutler Lab
Gene Symbol Zfyve19
Ensembl Gene ENSMUSG00000068580
Gene Name zinc finger, FYVE domain containing 19
Synonyms 1500041L05Rik
MMRRC Submission 039014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0835 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119039098-119047530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119041266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 61 (S61T)
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 benign
Transcript: ENSMUST00000090174
AA Change: S61T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: S61T

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: S61T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: S61T

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: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142644
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G 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
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
Predicted Primers PCR Primer
(F):5'- AAGTCTGCAAGCAGTGCCACAC -3'
(R):5'- ACCCATTCAAATCAATCTGGGCCTC -3'

Sequencing Primer
(F):5'- CACAATCCTGACCAGGTGAGAG -3'
(R):5'- TTCAAATCAATCTGGGCCTCTACAG -3'
Posted On 2013-10-16