Incidental Mutation 'R4393:Zdhhc21'
ID 326460
Institutional Source Beutler Lab
Gene Symbol Zdhhc21
Ensembl Gene ENSMUSG00000028403
Gene Name zinc finger, DHHC domain containing 21
Synonyms 9130404H11Rik, D130004H04Rik, dep
MMRRC Submission 041128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 82716975-82778195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82765891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 15 (C15R)
Ref Sequence ENSEMBL: ENSMUSP00000133630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030110] [ENSMUST00000107239] [ENSMUST00000139401] [ENSMUST00000156055] [ENSMUST00000173741]
AlphaFold Q9D270
Predicted Effect possibly damaging
Transcript: ENSMUST00000030110
AA Change: C15R

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030110
Gene: ENSMUSG00000028403
AA Change: C15R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 43 58 N/A INTRINSIC
Pfam:zf-DHHC 61 217 5.6e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107239
AA Change: C15R

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102859
Gene: ENSMUSG00000028403
AA Change: C15R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 45 65 N/A INTRINSIC
Pfam:zf-DHHC 85 218 3.6e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000139401
AA Change: C15R

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121954
Gene: ENSMUSG00000028403
AA Change: C15R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 43 58 N/A INTRINSIC
Pfam:zf-DHHC 61 110 3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144139
Predicted Effect probably benign
Transcript: ENSMUST00000156055
AA Change: C15R

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000173741
AA Change: C15R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133630
Gene: ENSMUSG00000028403
AA Change: C15R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 43 58 N/A INTRINSIC
Pfam:zf-DHHC 61 125 1.5e-16 PFAM
Meta Mutation Damage Score 0.2010 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
MGI Phenotype PHENOTYPE: Homozygous mutants of this epidermal acting gene have thin, short hair, many misshapen and disoriented hair follicles, and clumps of pigment reflecting remains of degenerating follicles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S probably benign Het
Other mutations in Zdhhc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Zdhhc21 APN 4 82,762,427 (GRCm39) missense probably benign 0.43
IGL03172:Zdhhc21 APN 4 82,724,564 (GRCm39) utr 3 prime probably benign
cornu UTSW 4 82,725,292 (GRCm39) missense probably damaging 1.00
hadrosaur UTSW 4 82,738,568 (GRCm39) missense possibly damaging 0.68
R4701:Zdhhc21 UTSW 4 82,738,571 (GRCm39) missense possibly damaging 0.92
R4910:Zdhhc21 UTSW 4 82,738,568 (GRCm39) missense possibly damaging 0.68
R5288:Zdhhc21 UTSW 4 82,765,929 (GRCm39) missense probably damaging 1.00
R5339:Zdhhc21 UTSW 4 82,756,550 (GRCm39) missense probably damaging 1.00
R6363:Zdhhc21 UTSW 4 82,765,911 (GRCm39) missense probably damaging 1.00
R8435:Zdhhc21 UTSW 4 82,753,714 (GRCm39) missense probably damaging 0.99
R8723:Zdhhc21 UTSW 4 82,762,439 (GRCm39) missense probably benign 0.00
R9089:Zdhhc21 UTSW 4 82,725,292 (GRCm39) missense probably damaging 1.00
R9400:Zdhhc21 UTSW 4 82,753,687 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GACGCTGTACTTCAAAACATTCAC -3'
(R):5'- CCTGTGATGTTAGCCTCCTG -3'

Sequencing Primer
(F):5'- TGCCAGGAATATGTCCTTC -3'
(R):5'- GCCTCCTGGTTAAAGTGCTAAGAC -3'
Posted On 2015-07-06