Incidental Mutation 'R1017:Zdhhc14'
ID 96504
Institutional Source Beutler Lab
Gene Symbol Zdhhc14
Ensembl Gene ENSMUSG00000034265
Gene Name zinc finger, DHHC domain containing 14
Synonyms New1cp, B530001K09Rik
MMRRC Submission 039121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1017 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 5542832-5804086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5543924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 68 (L68H)
Ref Sequence ENSEMBL: ENSMUSP00000086589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089185]
AlphaFold Q8BQQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000089185
AA Change: L68H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086589
Gene: ENSMUSG00000034265
AA Change: L68H

DomainStartEndE-ValueType
transmembrane domain 62 81 N/A INTRINSIC
transmembrane domain 91 110 N/A INTRINSIC
Pfam:zf-DHHC 160 289 1.8e-38 PFAM
low complexity region 351 365 N/A INTRINSIC
Meta Mutation Damage Score 0.1480 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp C T 6: 125,038,223 (GRCm39) probably benign Het
Ahnak A T 19: 8,987,907 (GRCm39) I3064F probably damaging Het
Arhgef10l C A 4: 140,242,617 (GRCm39) R884L probably damaging Het
Baiap2l2 A G 15: 79,145,443 (GRCm39) F317L probably benign Het
Brinp2 A T 1: 158,077,021 (GRCm39) I358N probably damaging Het
Ccin A G 4: 43,985,222 (GRCm39) D543G probably benign Het
Cdh23 T A 10: 60,167,572 (GRCm39) D1806V probably damaging Het
Cdh6 C T 15: 13,051,562 (GRCm39) R357Q probably benign Het
Cpa3 T C 3: 20,293,797 (GRCm39) M64V possibly damaging Het
Ctnnb1 T A 9: 120,779,794 (GRCm39) F74I probably damaging Het
Cyp7a1 A T 4: 6,272,307 (GRCm39) I302N probably damaging Het
Dnase1l2 C T 17: 24,661,446 (GRCm39) A56T probably benign Het
Dscam T A 16: 96,634,633 (GRCm39) D190V probably damaging Het
Fer1l4 T C 2: 155,891,398 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm10306 A G 4: 94,444,957 (GRCm39) probably benign Het
Gon4l T A 3: 88,765,803 (GRCm39) M409K probably benign Het
Gsx2 T C 5: 75,237,923 (GRCm39) S292P probably damaging Het
Hira T A 16: 18,718,097 (GRCm39) probably null Het
Hoxa3 G T 6: 52,149,386 (GRCm39) probably null Het
Irak3 T C 10: 119,978,789 (GRCm39) E554G possibly damaging Het
Itgb3bp A G 4: 99,657,724 (GRCm39) probably benign Het
Kifc3 C T 8: 95,832,413 (GRCm39) D379N probably damaging Het
Lama5 A G 2: 179,837,213 (GRCm39) V1032A probably damaging Het
Lmln T G 16: 32,908,546 (GRCm39) I324R probably benign Het
Ltbp4 A G 7: 27,005,501 (GRCm39) S1547P possibly damaging Het
Mdga1 T A 17: 30,069,522 (GRCm39) T175S probably damaging Het
Mrps6 T A 16: 91,855,346 (GRCm39) L8* probably null Het
Mtmr11 A C 3: 96,071,794 (GRCm39) T203P probably damaging Het
Nat8f7 T C 6: 85,684,552 (GRCm39) D96G probably damaging Het
Obscn T C 11: 58,889,179 (GRCm39) E7531G unknown Het
Or2k2 A T 4: 58,785,115 (GRCm39) S202R probably damaging Het
Or8k25 A T 2: 86,243,855 (GRCm39) D180E probably damaging Het
Or8k27 A T 2: 86,275,772 (GRCm39) L185I probably benign Het
Osbpl6 A G 2: 76,380,063 (GRCm39) Y69C probably damaging Het
Polrmt C T 10: 79,579,343 (GRCm39) W136* probably null Het
Raver1 T C 9: 20,990,886 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rsl1d1 T C 16: 11,021,116 (GRCm39) K2E probably benign Het
Sik3 C T 9: 46,107,107 (GRCm39) T417I probably benign Het
Spdl1 T C 11: 34,710,117 (GRCm39) K388R possibly damaging Het
Tulp1 T C 17: 28,583,277 (GRCm39) R88G probably damaging Het
Vldlr A C 19: 27,218,733 (GRCm39) Y528S probably damaging Het
Zfp605 C T 5: 110,275,860 (GRCm39) T326I probably benign Het
Other mutations in Zdhhc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Zdhhc14 APN 17 5,802,959 (GRCm39) splice site probably benign
IGL00909:Zdhhc14 APN 17 5,803,067 (GRCm39) missense probably benign
IGL00964:Zdhhc14 APN 17 5,762,756 (GRCm39) missense probably damaging 1.00
IGL01398:Zdhhc14 APN 17 5,762,738 (GRCm39) missense possibly damaging 0.90
IGL01483:Zdhhc14 APN 17 5,762,733 (GRCm39) missense probably benign 0.01
IGL02185:Zdhhc14 APN 17 5,803,157 (GRCm39) missense probably benign 0.01
IGL02801:Zdhhc14 APN 17 5,777,094 (GRCm39) splice site probably null
R0189:Zdhhc14 UTSW 17 5,775,539 (GRCm39) missense possibly damaging 0.90
R0304:Zdhhc14 UTSW 17 5,775,611 (GRCm39) splice site probably benign
R0648:Zdhhc14 UTSW 17 5,543,877 (GRCm39) missense probably benign 0.01
R1595:Zdhhc14 UTSW 17 5,543,831 (GRCm39) missense probably benign 0.00
R2416:Zdhhc14 UTSW 17 5,803,283 (GRCm39) missense probably benign
R3420:Zdhhc14 UTSW 17 5,803,366 (GRCm39) makesense probably null
R3421:Zdhhc14 UTSW 17 5,803,366 (GRCm39) makesense probably null
R4063:Zdhhc14 UTSW 17 5,802,983 (GRCm39) missense probably damaging 1.00
R4088:Zdhhc14 UTSW 17 5,777,131 (GRCm39) missense probably benign 0.01
R5359:Zdhhc14 UTSW 17 5,543,821 (GRCm39) missense probably benign
R6236:Zdhhc14 UTSW 17 5,543,918 (GRCm39) missense probably damaging 1.00
R7029:Zdhhc14 UTSW 17 5,698,186 (GRCm39) missense probably damaging 0.97
R7350:Zdhhc14 UTSW 17 5,777,151 (GRCm39) missense probably benign 0.44
R7873:Zdhhc14 UTSW 17 5,762,729 (GRCm39) missense probably benign 0.37
R8247:Zdhhc14 UTSW 17 5,736,031 (GRCm39) missense probably damaging 1.00
R8492:Zdhhc14 UTSW 17 5,762,689 (GRCm39) missense probably damaging 0.98
R8865:Zdhhc14 UTSW 17 5,775,570 (GRCm39) missense possibly damaging 0.58
R8969:Zdhhc14 UTSW 17 5,775,555 (GRCm39) missense probably benign 0.12
R9133:Zdhhc14 UTSW 17 5,803,283 (GRCm39) missense probably benign
R9291:Zdhhc14 UTSW 17 5,698,237 (GRCm39) missense probably benign 0.02
R9433:Zdhhc14 UTSW 17 5,781,779 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCGAGTACAGTCAGATCAGCACC -3'
(R):5'- TGACCTGGCACACCTTACAAGC -3'

Sequencing Primer
(F):5'- GTCAGATCAGCACCCACAG -3'
(R):5'- AGGCATTATTCCAGGGGGC -3'
Posted On 2014-01-05