Incidental Mutation 'R6363:Zdhhc21'
ID 512573
Institutional Source Beutler Lab
Gene Symbol Zdhhc21
Ensembl Gene ENSMUSG00000028403
Gene Name zinc finger, DHHC domain containing 21
Synonyms 9130404H11Rik, D130004H04Rik, dep
MMRRC Submission 044513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6363 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 82716975-82778195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82765911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 8 (V8D)
Ref Sequence ENSEMBL: ENSMUSP00000121954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030110] [ENSMUST00000107239] [ENSMUST00000139401] [ENSMUST00000156055] [ENSMUST00000173741]
AlphaFold Q9D270
Predicted Effect probably damaging
Transcript: ENSMUST00000030110
AA Change: V8D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030110
Gene: ENSMUSG00000028403
AA Change: V8D

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 probably damaging
Transcript: ENSMUST00000107239
AA Change: V8D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102859
Gene: ENSMUSG00000028403
AA Change: V8D

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 probably damaging
Transcript: ENSMUST00000139401
AA Change: V8D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121954
Gene: ENSMUSG00000028403
AA Change: V8D

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 damaging
Transcript: ENSMUST00000156055
AA Change: V8D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000173741
AA Change: V8D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133630
Gene: ENSMUSG00000028403
AA Change: V8D

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 0.7809 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 A G 4: 111,423,982 (GRCm39) probably benign Het
Antxrl G T 14: 33,791,244 (GRCm39) C379F probably damaging Het
Camsap3 T C 8: 3,651,971 (GRCm39) C256R probably damaging Het
Ccdc33 T C 9: 58,021,618 (GRCm39) E254G probably benign Het
Ccndbp1 C T 2: 120,843,454 (GRCm39) P282L probably damaging Het
Col5a1 C T 2: 27,818,207 (GRCm39) T144I unknown Het
Csmd2 A T 4: 128,294,172 (GRCm39) H1167L probably benign Het
Ctsk A T 3: 95,408,862 (GRCm39) T82S probably damaging Het
Cyp3a41b A T 5: 145,507,197 (GRCm39) F248I probably damaging Het
Dchs1 A G 7: 105,407,679 (GRCm39) I2051T probably benign Het
Dnah17 A G 11: 118,001,331 (GRCm39) F871L probably benign Het
Eif2b4 A G 5: 31,348,583 (GRCm39) V210A probably damaging Het
Eral1 A G 11: 77,965,143 (GRCm39) I385T probably damaging Het
Ercc8 T C 13: 108,320,404 (GRCm39) L330P probably damaging Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fcrl1 A T 3: 87,292,475 (GRCm39) I156F probably damaging Het
Gm7298 A G 6: 121,765,565 (GRCm39) Y1465C probably damaging Het
Gpr17 A G 18: 32,080,625 (GRCm39) L146P probably damaging Het
Gpr171 A G 3: 59,005,313 (GRCm39) I154T possibly damaging Het
Hid1 T A 11: 115,243,422 (GRCm39) Y542F probably damaging Het
Hspa8 T C 9: 40,714,361 (GRCm39) V219A probably damaging Het
Klhl24 C T 16: 19,938,933 (GRCm39) T496I possibly damaging Het
Krtcap2 T C 3: 89,156,413 (GRCm39) S64P probably damaging Het
Msh3 C A 13: 92,349,032 (GRCm39) D1066Y probably damaging Het
Naaladl2 C T 3: 24,389,481 (GRCm39) G323R possibly damaging Het
Nbas A G 12: 13,532,577 (GRCm39) T1762A probably benign Het
Nr4a1 C T 15: 101,171,996 (GRCm39) R557C probably damaging Het
Ogfrl1 T A 1: 23,409,194 (GRCm39) H344L probably benign Het
Or13a25 T A 7: 140,247,995 (GRCm39) F265Y possibly damaging Het
Or5a1 T A 19: 12,097,530 (GRCm39) H182L possibly damaging Het
Or5p55 A G 7: 107,566,957 (GRCm39) M118V possibly damaging Het
Or9k7 A C 10: 130,046,906 (GRCm39) V31G possibly damaging Het
Orm2 G A 4: 63,280,841 (GRCm39) probably null Het
Patj T A 4: 98,320,097 (GRCm39) S455T probably benign Het
Pdgfra G T 5: 75,331,497 (GRCm39) V336L possibly damaging Het
Prkaa1 T C 15: 5,206,437 (GRCm39) L431S probably damaging Het
Ptgfrn A G 3: 100,952,894 (GRCm39) V780A possibly damaging Het
Rb1 A T 14: 73,525,081 (GRCm39) V184E probably benign Het
Rev1 T A 1: 38,110,570 (GRCm39) H560L probably damaging Het
Serpinb13 A T 1: 106,928,504 (GRCm39) R375* probably null Het
Slc8a2 C A 7: 15,867,970 (GRCm39) D67E probably benign Het
Sos2 A T 12: 69,678,885 (GRCm39) N307K probably benign Het
Srgap2 G A 1: 131,226,206 (GRCm39) R36W probably damaging Het
Tas2r119 G T 15: 32,178,034 (GRCm39) W200L possibly damaging Het
Tep1 T G 14: 51,062,005 (GRCm39) K2575T probably benign Het
Ttc36 T A 9: 44,710,936 (GRCm39) R131S probably damaging Het
Ttyh3 A T 5: 140,620,979 (GRCm39) L195Q probably damaging Het
Uba7 G A 9: 107,857,382 (GRCm39) probably null Het
Utp20 A C 10: 88,592,942 (GRCm39) V2249G probably damaging Het
Wwc2 A T 8: 48,340,197 (GRCm39) probably null Het
Zfp719 A G 7: 43,239,290 (GRCm39) T293A 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
R4393:Zdhhc21 UTSW 4 82,765,891 (GRCm39) missense possibly damaging 0.90
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
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'- AGACGCTGTACTTCAAAACATTCAC -3'
(R):5'- CCTGTGATGTTAGCCTCCTG -3'

Sequencing Primer
(F):5'- TGCCAGGAATATGTCCTTC -3'
(R):5'- GCCTCCTGGTTAAAGTGCTAAGAC -3'
Posted On 2018-04-27