Incidental Mutation 'R7210:Zdhhc2'
ID561001
Institutional Source Beutler Lab
Gene Symbol Zdhhc2
Ensembl Gene ENSMUSG00000039470
Gene Namezinc finger, DHHC domain containing 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7210 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location40423815-40510268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40467439 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 246 (R246S)
Ref Sequence ENSEMBL: ENSMUSP00000041727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049389] [ENSMUST00000128166] [ENSMUST00000167766]
Predicted Effect probably damaging
Transcript: ENSMUST00000049389
AA Change: R246S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
AA Change: R246S

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128166
AA Change: R246S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
AA Change: R246S

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
Pfam:zf-DHHC 122 248 1.8e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167766
AA Change: R246S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
AA Change: R246S

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G A 11: 94,373,941 P194S probably benign Het
Ackr2 C T 9: 121,908,877 A106V possibly damaging Het
Alg3 G A 16: 20,605,894 P112L unknown Het
Areg T A 5: 91,140,905 Y23* probably null Het
Aspn A G 13: 49,566,491 T328A probably benign Het
B020011L13Rik A T 1: 117,801,511 E249D possibly damaging Het
Bptf G A 11: 107,054,464 Q2650* probably null Het
Btbd3 A T 2: 138,283,744 R283W probably damaging Het
Cep131 T C 11: 120,064,789 H1035R probably damaging Het
Cfap57 A T 4: 118,576,703 Y959* probably null Het
Cnot1 T C 8: 95,788,658 Y25C probably damaging Het
Crebbp G A 16: 4,084,257 H2373Y possibly damaging Het
Ctnna3 T C 10: 64,250,768 L373P probably damaging Het
Cyp8b1 T A 9: 121,915,180 D362V probably damaging Het
D430042O09Rik T C 7: 125,872,239 V1504A probably damaging Het
D630003M21Rik T A 2: 158,216,012 probably null Het
Dpp6 T C 5: 27,598,803 I249T probably damaging Het
Fam149b T G 14: 20,378,472 I475M probably damaging Het
Fat1 A G 8: 45,023,503 Y1862C probably damaging Het
Fcrl5 A T 3: 87,446,412 N355Y possibly damaging Het
Fgd6 C T 10: 94,134,092 T1201I probably damaging Het
Fndc8 A T 11: 82,897,866 D174V probably damaging Het
Gatb A G 3: 85,574,220 H26R probably benign Het
Gm37240 T A 3: 84,497,807 T230S probably benign Het
Gria4 T C 9: 4,464,135 Q609R probably damaging Het
Gse1 C A 8: 120,230,702 T644K unknown Het
Ifit1bl1 T G 19: 34,594,164 I298L probably benign Het
Il31ra T C 13: 112,549,500 D85G possibly damaging Het
Lyst T C 13: 13,656,983 L1664P probably damaging Het
Mrpl35 A G 6: 71,817,738 L82S possibly damaging Het
Myo7b G A 18: 32,007,102 R212C probably damaging Het
Myom2 T C 8: 15,104,114 V684A probably damaging Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Nop58 G T 1: 59,710,380 probably null Het
Nudt13 T A 14: 20,309,784 I193N possibly damaging Het
Nyap1 C A 5: 137,737,982 R81L probably damaging Het
Olfr388-ps1 T C 11: 73,724,873 I50M possibly damaging Het
Oxct2b A C 4: 123,116,276 probably benign Het
Pcf11 C T 7: 92,663,476 A230T probably benign Het
Phactr4 A T 4: 132,358,271 *695R probably null Het
Pkd1 T C 17: 24,575,866 S2176P probably damaging Het
Plch2 C A 4: 155,009,086 R133L probably damaging Het
Ptprq G T 10: 107,685,171 N713K probably damaging Het
Ptrh2 A T 11: 86,689,967 T137S probably benign Het
R3hdm1 A G 1: 128,211,208 Y718C possibly damaging Het
Rftn1 T A 17: 49,994,307 R505* probably null Het
Rps15a A G 7: 118,109,111 F128L probably benign Het
Slc25a25 A T 2: 32,420,396 M177K possibly damaging Het
Smgc C A 15: 91,860,294 P631Q probably damaging Het
Sox2 T C 3: 34,651,157 S248P probably damaging Het
Sycp1 T C 3: 102,853,492 K702E probably damaging Het
Tes G T 6: 17,104,762 C414F probably damaging Het
Tet1 A T 10: 62,814,501 C14S probably null Het
Tle3 C T 9: 61,412,305 P452S probably damaging Het
Tmc6 A C 11: 117,775,844 L131R possibly damaging Het
Tnip3 C T 6: 65,593,511 R30* probably null Het
Tnrc6b G T 15: 80,929,285 G1748W probably damaging Het
Ugt2b38 T G 5: 87,410,425 D459A probably damaging Het
Zscan22 T A 7: 12,906,821 C331S probably damaging Het
Other mutations in Zdhhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Zdhhc2 APN 8 40467419 splice site probably benign
IGL01751:Zdhhc2 APN 8 40473001 missense probably benign
IGL01752:Zdhhc2 APN 8 40473001 missense probably benign
IGL01800:Zdhhc2 APN 8 40464243 missense probably damaging 1.00
IGL02475:Zdhhc2 APN 8 40473025 missense probably null 1.00
IGL02554:Zdhhc2 APN 8 40462114 missense probably damaging 1.00
R0662:Zdhhc2 UTSW 8 40447098 missense probably damaging 1.00
R0720:Zdhhc2 UTSW 8 40472907 splice site probably null
R1511:Zdhhc2 UTSW 8 40467972 missense probably benign 0.00
R4738:Zdhhc2 UTSW 8 40464142 splice site probably null
R5114:Zdhhc2 UTSW 8 40445784 missense probably benign 0.06
R5935:Zdhhc2 UTSW 8 40464236 missense probably damaging 0.96
R6029:Zdhhc2 UTSW 8 40472927 missense probably null
R7792:Zdhhc2 UTSW 8 40447141 missense probably benign 0.02
R8756:Zdhhc2 UTSW 8 40467510 missense probably damaging 1.00
R8805:Zdhhc2 UTSW 8 40445805 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGACAACCTCTGTTTCAAGGC -3'
(R):5'- AACAGCCATCACCTTGACTG -3'

Sequencing Primer
(F):5'- ACCTCTGTTTCAAGGCTATGTACAG -3'
(R):5'- TCAGGATATCTGATAGGTGACCCC -3'
Posted On2019-06-26