Incidental Mutation 'R6852:Zdhhc1'
ID535034
Institutional Source Beutler Lab
Gene Symbol Zdhhc1
Ensembl Gene ENSMUSG00000039199
Gene Namezinc finger, DHHC domain containing 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6852 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location105472423-105496902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 105477072 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 156 (G156S)
Ref Sequence ENSEMBL: ENSMUSP00000148381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044286] [ENSMUST00000212303]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044286
AA Change: G156S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199
AA Change: G156S

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:zf-DHHC 126 282 2.5e-38 PFAM
low complexity region 359 371 N/A INTRINSIC
low complexity region 383 392 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 468 482 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212303
AA Change: G156S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 138,065,169 Q40* probably null Het
1700034E13Rik T C 18: 52,663,633 V81A probably damaging Het
2310035C23Rik T C 1: 105,753,595 L1184P probably damaging Het
5330417C22Rik T C 3: 108,482,338 E203G probably damaging Het
9530053A07Rik T A 7: 28,147,135 I1084N probably damaging Het
A630089N07Rik A G 16: 98,065,655 I369T probably benign Het
Aatk T A 11: 120,010,468 Q977L probably benign Het
Abca4 A T 3: 122,135,195 Q144H probably damaging Het
Ampd3 T C 7: 110,802,546 F416L probably benign Het
Anks1b A G 10: 90,260,654 E425G probably damaging Het
Atm A G 9: 53,482,430 S1737P possibly damaging Het
Bsph1 T A 7: 13,470,330 probably null Het
Cabyr C T 18: 12,754,097 P262S probably benign Het
Cdc14a G A 3: 116,328,676 P214L possibly damaging Het
Cep128 C A 12: 91,366,342 probably null Het
Cfh T A 1: 140,147,749 R250S probably damaging Het
Ddx39 T C 8: 83,723,017 I417T probably benign Het
Dgka T A 10: 128,722,539 K548M probably damaging Het
Efr3a G A 15: 65,829,830 V198I probably benign Het
Epg5 C T 18: 78,012,891 T1760I probably damaging Het
Fat1 T C 8: 45,035,598 V3472A possibly damaging Het
Fbxo48 T A 11: 16,953,402 N9K probably benign Het
Fer1l6 A T 15: 58,594,878 H833L probably damaging Het
Foxn1 G T 11: 78,360,960 Q482K probably benign Het
Fstl5 A G 3: 76,707,855 D741G probably damaging Het
Gm8909 T C 17: 36,168,073 N95D possibly damaging Het
Gmip C T 8: 69,817,991 Q55* probably null Het
Hapln2 G A 3: 88,022,651 T306M possibly damaging Het
Kat6a T A 8: 22,938,660 S1344T probably benign Het
Kctd1 C T 18: 14,986,344 D705N possibly damaging Het
Lhx9 ACC ACCC 1: 138,841,806 probably null Het
Micall2 G T 5: 139,715,793 A482D possibly damaging Het
Mindy3 T A 2: 12,419,252 M1L possibly damaging Het
Mtdh A G 15: 34,136,721 E352G probably damaging Het
Muc5ac G A 7: 141,816,907 V3219I probably benign Het
Myh4 A G 11: 67,252,968 probably null Het
Ncor1 A G 11: 62,343,245 I377T probably damaging Het
Olfr1034 A T 2: 86,046,604 I41F probably benign Het
Oog4 C A 4: 143,439,109 C156F possibly damaging Het
Pcyt1a T C 16: 32,470,120 S260P probably damaging Het
Phf3 A T 1: 30,804,630 F1749L probably damaging Het
Prickle2 T C 6: 92,376,544 D647G probably benign Het
Raver2 T C 4: 101,133,590 S387P probably benign Het
Rgs19 A G 2: 181,689,148 S231P possibly damaging Het
Rpl8 G T 15: 76,905,949 R198L probably benign Het
Sacs T A 14: 61,179,288 S77T possibly damaging Het
Samd14 G A 11: 95,021,454 G219D probably damaging Het
Sec16a C T 2: 26,441,419 V195M probably damaging Het
Sesn2 C T 4: 132,493,802 V453I possibly damaging Het
Slc46a3 A T 5: 147,886,160 C291S probably damaging Het
Smarcal1 A G 1: 72,591,173 T129A possibly damaging Het
Sorl1 T A 9: 42,024,398 R1041W possibly damaging Het
Sptlc3 T C 2: 139,566,586 I207T probably benign Het
Srgap3 T C 6: 112,816,661 D118G probably damaging Het
Tas2r117 T A 6: 132,802,929 V10D probably benign Het
Tbcd A G 11: 121,609,380 K1111E probably benign Het
Tor1aip1 A T 1: 156,035,820 L139Q probably damaging Het
Trbv23 T C 6: 41,216,247 V23A probably damaging Het
Ttll3 GGCAAAG GGCAAAGCAAAG 6: 113,399,155 probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,399,157 probably null Het
Ttll3 AAGTA AAGTATAGTA 6: 113,399,159 probably null Het
Vmn1r42 T G 6: 89,844,787 T267P possibly damaging Het
Vmn2r53 C A 7: 12,606,514 V11F probably damaging Het
Vmn2r67 T C 7: 85,152,153 M192V probably damaging Het
Vmn2r78 T C 7: 86,954,603 V663A probably damaging Het
Zfp318 GAAGAA GAAGAAAAAGAA 17: 46,412,533 probably benign Het
Zfp318 AAGAAG AAGAAGTAGAAG 17: 46,412,534 probably benign Het
Zfp318 AGAAG AGAAGAGGAAG 17: 46,412,538 probably benign Het
Zfp560 A G 9: 20,348,043 C508R probably damaging Het
Zfp654 G A 16: 64,786,598 L414F probably damaging Het
Zfp872 A T 9: 22,200,059 Y278F probably damaging Het
Zscan20 T C 4: 128,589,722 S385G probably damaging Het
Other mutations in Zdhhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Zdhhc1 APN 8 105472998 missense probably benign
hacked UTSW 8 105483744 frame shift probably null
middleman UTSW 8 105483647 missense probably damaging 1.00
R0329:Zdhhc1 UTSW 8 105483543 missense probably benign 0.04
R1898:Zdhhc1 UTSW 8 105478746 splice site probably null
R2511:Zdhhc1 UTSW 8 105483558 missense probably benign 0.16
R4734:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4741:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4795:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4818:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4819:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4822:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4871:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4891:Zdhhc1 UTSW 8 105473017 missense probably benign 0.00
R4901:Zdhhc1 UTSW 8 105472852 missense probably benign
R4905:Zdhhc1 UTSW 8 105483694 missense probably damaging 0.98
R4953:Zdhhc1 UTSW 8 105483744 frame shift probably null
R5128:Zdhhc1 UTSW 8 105483636 missense probably benign 0.02
R5274:Zdhhc1 UTSW 8 105483770 missense probably benign 0.30
R5380:Zdhhc1 UTSW 8 105483744 frame shift probably null
R5381:Zdhhc1 UTSW 8 105483744 frame shift probably null
R6962:Zdhhc1 UTSW 8 105483647 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGAACCAATAGGATGGC -3'
(R):5'- ACCTCCTGTTTCCACCAGAG -3'

Sequencing Primer
(F):5'- ACCAATAGGATGGCGGGCTC -3'
(R):5'- GCGCGTGCACTCCTCATTG -3'
Posted On2018-09-12