Incidental Mutation 'R8435:Zdhhc21'
ID 653940
Institutional Source Beutler Lab
Gene Symbol Zdhhc21
Ensembl Gene ENSMUSG00000028403
Gene Name zinc finger, DHHC domain containing 21
Synonyms 9130404H11Rik, D130004H04Rik, dep
MMRRC Submission 067824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8435 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 82716975-82778195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82753714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 158 (Y158C)
Ref Sequence ENSEMBL: ENSMUSP00000030110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030110] [ENSMUST00000107239] [ENSMUST00000139401] [ENSMUST00000173741]
AlphaFold Q9D270
Predicted Effect probably damaging
Transcript: ENSMUST00000030110
AA Change: Y158C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030110
Gene: ENSMUSG00000028403
AA Change: Y158C

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: Y158C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102859
Gene: ENSMUSG00000028403
AA Change: Y158C

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 benign
Transcript: ENSMUST00000139401
SMART Domains Protein: ENSMUSP00000121954
Gene: ENSMUSG00000028403

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 probably benign
Transcript: ENSMUST00000173741
SMART Domains Protein: ENSMUSP00000133630
Gene: ENSMUSG00000028403

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik G T 12: 24,146,881 (GRCm39) T30K possibly damaging Het
Adam20 C T 8: 41,248,072 (GRCm39) P61S probably damaging Het
Akip1 C T 7: 109,304,193 (GRCm39) S90L unknown Het
Atp13a5 C T 16: 29,099,747 (GRCm39) probably null Het
Atp1a1 A G 3: 101,490,078 (GRCm39) Y684H probably benign Het
Bach2 T A 4: 32,501,682 (GRCm39) C20S possibly damaging Het
Cage1 T C 13: 38,203,161 (GRCm39) I634M possibly damaging Het
Cckbr T C 7: 105,075,280 (GRCm39) S17P probably benign Het
Celsr2 T C 3: 108,321,715 (GRCm39) T366A probably benign Het
Cps1 G A 1: 67,251,589 (GRCm39) V1196I probably benign Het
Ddc A T 11: 11,814,902 (GRCm39) S188T probably damaging Het
Eml4 T C 17: 83,729,070 (GRCm39) C82R possibly damaging Het
Fig4 T A 10: 41,161,670 (GRCm39) H31L probably benign Het
Fkbp5 T C 17: 28,621,752 (GRCm39) D366G possibly damaging Het
Ift80 A G 3: 68,892,787 (GRCm39) S134P probably damaging Het
Lacc1 A T 14: 77,272,475 (GRCm39) V107D possibly damaging Het
Lcp2 A G 11: 34,004,316 (GRCm39) E51G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lrp1 A G 10: 127,392,199 (GRCm39) Y2815H probably damaging Het
Lrp4 T C 2: 91,307,998 (GRCm39) L481P probably damaging Het
Ltbp4 C A 7: 27,034,870 (GRCm39) R97L unknown Het
Mbnl1 G A 3: 60,437,090 (GRCm39) W13* probably null Het
Neb T A 2: 52,157,729 (GRCm39) T2293S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Odr4 T G 1: 150,258,020 (GRCm39) K205T possibly damaging Het
Or56b1 A T 7: 104,285,657 (GRCm39) T259S probably benign Het
Or5v1 A G 17: 37,809,676 (GRCm39) I45V probably benign Het
Or8a1b T A 9: 37,622,846 (GRCm39) H243L probably damaging Het
Pcmt1 G A 10: 7,515,825 (GRCm39) P221L possibly damaging Het
Plag1 T A 4: 3,905,648 (GRCm39) D14V probably benign Het
Ppp4r3a A G 12: 101,049,048 (GRCm39) S28P probably benign Het
Rab11fip5 T A 6: 85,314,522 (GRCm39) I1232F possibly damaging Het
Rpl18a C T 8: 71,348,341 (GRCm39) G114D possibly damaging Het
Rtel1 A G 2: 180,995,897 (GRCm39) D927G possibly damaging Het
Shcbp1 C T 8: 4,798,734 (GRCm39) C395Y probably benign Het
Slc22a28 T A 19: 8,048,565 (GRCm39) T361S probably benign Het
Slc35f5 C T 1: 125,488,994 (GRCm39) R5* probably null Het
Slc37a4 G A 9: 44,310,759 (GRCm39) C121Y probably damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tc2n C T 12: 101,615,376 (GRCm39) W483* probably null Het
Tex101 G A 7: 24,367,791 (GRCm39) T187I probably damaging Het
Trpc6 T C 9: 8,610,441 (GRCm39) L303P probably damaging Het
Trpv5 A T 6: 41,647,827 (GRCm39) Y329N probably damaging Het
Tshz1 C A 18: 84,032,149 (GRCm39) S753I probably damaging Het
Ttn G A 2: 76,546,264 (GRCm39) T32383I probably damaging Het
Txlnb A G 10: 17,703,544 (GRCm39) E234G probably damaging Het
Vmn1r120 T A 7: 20,787,557 (GRCm39) R51S probably benign Het
Vmn2r17 A T 5: 109,576,172 (GRCm39) T348S probably benign Het
Zfp236 C T 18: 82,658,366 (GRCm39) G632D probably damaging 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
R6363:Zdhhc21 UTSW 4 82,765,911 (GRCm39) missense probably damaging 1.00
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'- AAGAGCAACAGAGCGCTCTC -3'
(R):5'- CTAGCTGGCCTCCTTGGTAAAG -3'

Sequencing Primer
(F):5'- AACAGAGCGCTCTCTCGAG -3'
(R):5'- AGGTGAGACTTACCTTCATGATCCTG -3'
Posted On 2020-10-20