Incidental Mutation 'R6650:Zdhhc20'
ID 527755
Institutional Source Beutler Lab
Gene Symbol Zdhhc20
Ensembl Gene ENSMUSG00000021969
Gene Name zinc finger, DHHC domain containing 20
Synonyms 5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik
MMRRC Submission 044771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R6650 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 58070160-58127733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58096032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 135 (K135N)
Ref Sequence ENSEMBL: ENSMUSP00000153568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]
AlphaFold Q5Y5T1
Predicted Effect probably damaging
Transcript: ENSMUST00000089473
AA Change: K135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: K135N

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
Pfam:zf-DHHC 121 250 2.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225955
Predicted Effect probably damaging
Transcript: ENSMUST00000226057
AA Change: K135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9303 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,659,639 (GRCm39) N97S probably benign Het
Aph1a T C 3: 95,803,598 (GRCm39) V220A probably benign Het
Bin2 T A 15: 100,567,301 (GRCm39) Q25L probably damaging Het
Ccdc102a T C 8: 95,639,892 (GRCm39) E134G probably benign Het
Cdh6 A G 15: 13,051,487 (GRCm39) V382A probably benign Het
Cep135 T A 5: 76,781,548 (GRCm39) V845E possibly damaging Het
Cngb3 T C 4: 19,364,168 (GRCm39) L124P probably damaging Het
Cped1 A G 6: 22,233,975 (GRCm39) N725S probably damaging Het
Dcn C A 10: 97,343,605 (GRCm39) N188K probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Ercc3 C T 18: 32,394,389 (GRCm39) R590C probably damaging Het
Fchsd1 A T 18: 38,099,555 (GRCm39) L213* probably null Het
Fmod A G 1: 133,968,745 (GRCm39) S262G probably benign Het
Gm45861 T C 8: 27,995,043 (GRCm39) S530P unknown Het
Ifih1 T C 2: 62,436,791 (GRCm39) D544G possibly damaging Het
Itpr1 A G 6: 108,371,034 (GRCm39) probably null Het
Larp1 CA CAA 11: 57,949,422 (GRCm39) probably null Het
Lbp T A 2: 158,151,587 (GRCm39) S102R probably benign Het
Lepr C A 4: 101,672,398 (GRCm39) Q1141K probably damaging Het
Mcm8 C A 2: 132,663,327 (GRCm39) N148K probably benign Het
Mcpt4 T G 14: 56,298,090 (GRCm39) T154P possibly damaging Het
Mrpl22 A G 11: 58,066,134 (GRCm39) Y76C probably damaging Het
Msln T C 17: 25,969,144 (GRCm39) I414V probably benign Het
Ncor1 G A 11: 62,225,367 (GRCm39) T1798I probably damaging Het
Nlrp4c T A 7: 6,068,948 (GRCm39) F283Y probably damaging Het
Os9 C T 10: 126,935,953 (GRCm39) probably null Het
Pira12 T A 7: 3,898,632 (GRCm39) Q272L probably benign Het
Pira13 T A 7: 3,819,898 (GRCm39) H555L possibly damaging Het
Pja2 T C 17: 64,599,936 (GRCm39) E516G probably damaging Het
Pofut1 T A 2: 153,101,270 (GRCm39) probably benign Het
Prl2b1 G T 13: 27,569,249 (GRCm39) H116Q probably benign Het
Ralgapa2 T C 2: 146,230,422 (GRCm39) K1048E probably damaging Het
Scnn1b G A 7: 121,502,043 (GRCm39) V234M probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2a C T 19: 47,256,663 (GRCm39) G685D probably benign Het
Six4 C A 12: 73,150,299 (GRCm39) G749C probably benign Het
Tnn G A 1: 159,942,153 (GRCm39) T1115I probably damaging Het
Tpcn1 T A 5: 120,675,627 (GRCm39) Q779L probably null Het
Ugt2a2 A G 5: 87,622,459 (GRCm39) Y380H probably damaging Het
Xkr8 T C 4: 132,455,249 (GRCm39) T375A probably benign Het
Zfp235 T A 7: 23,836,463 (GRCm39) probably null Het
Zfp354c A G 11: 50,705,518 (GRCm39) V519A probably damaging Het
Other mutations in Zdhhc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Zdhhc20 APN 14 58,111,381 (GRCm39) missense probably damaging 0.99
IGL00983:Zdhhc20 APN 14 58,076,613 (GRCm39) missense possibly damaging 0.62
IGL01107:Zdhhc20 APN 14 58,103,046 (GRCm39) missense probably damaging 1.00
IGL01350:Zdhhc20 APN 14 58,111,444 (GRCm39) missense probably benign 0.03
IGL02572:Zdhhc20 APN 14 58,127,564 (GRCm39) missense probably benign 0.20
IGL02748:Zdhhc20 APN 14 58,096,010 (GRCm39) missense probably benign 0.08
IGL03406:Zdhhc20 APN 14 58,076,556 (GRCm39) missense probably benign
R0314:Zdhhc20 UTSW 14 58,094,076 (GRCm39) missense probably damaging 1.00
R0631:Zdhhc20 UTSW 14 58,095,097 (GRCm39) missense probably damaging 0.99
R1144:Zdhhc20 UTSW 14 58,094,135 (GRCm39) missense probably benign 0.07
R1703:Zdhhc20 UTSW 14 58,076,545 (GRCm39) critical splice donor site probably null
R1815:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.10
R1816:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.10
R6219:Zdhhc20 UTSW 14 58,078,340 (GRCm39) missense probably damaging 0.99
R6488:Zdhhc20 UTSW 14 58,078,289 (GRCm39) missense probably benign 0.00
R6790:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.00
R7196:Zdhhc20 UTSW 14 58,111,348 (GRCm39) critical splice donor site probably null
R7365:Zdhhc20 UTSW 14 58,111,377 (GRCm39) missense possibly damaging 0.95
R8126:Zdhhc20 UTSW 14 58,084,402 (GRCm39) missense probably damaging 1.00
R8832:Zdhhc20 UTSW 14 58,103,089 (GRCm39) missense probably benign 0.05
R8832:Zdhhc20 UTSW 14 58,080,721 (GRCm39) missense possibly damaging 0.86
R8885:Zdhhc20 UTSW 14 58,127,671 (GRCm39) start gained probably benign
Z1176:Zdhhc20 UTSW 14 58,076,562 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAACCAGCAGAGAATCTCTTCTAG -3'
(R):5'- GAAGCTCTCTGGTGTACTCTGG -3'

Sequencing Primer
(F):5'- GGAAGCATGTAATGTCTGTC -3'
(R):5'- CCATTATCATCATGGTGGGAAGC -3'
Posted On 2018-07-23