Incidental Mutation 'R5639:Zdhhc3'
ID440555
Institutional Source Beutler Lab
Gene Symbol Zdhhc3
Ensembl Gene ENSMUSG00000025786
Gene Namezinc finger, DHHC domain containing 3
SynonymsGODZ, 1810006O10Rik, Zfp373, 2210017C02Rik, 1110020O22Rik
MMRRC Submission 043288-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5639 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location123066160-123113205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123100345 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 75 (Y75C)
Ref Sequence ENSEMBL: ENSMUSP00000119416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026892] [ENSMUST00000123937] [ENSMUST00000129862] [ENSMUST00000130717] [ENSMUST00000138622] [ENSMUST00000140497] [ENSMUST00000147563] [ENSMUST00000150679] [ENSMUST00000152396] [ENSMUST00000155778]
Predicted Effect probably damaging
Transcript: ENSMUST00000026892
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123937
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129151
Predicted Effect unknown
Transcript: ENSMUST00000129862
AA Change: Y2C
SMART Domains Protein: ENSMUSP00000119360
Gene: ENSMUSG00000025786
AA Change: Y2C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130717
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138622
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140497
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147563
AA Change: Y75C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 92 N/A INTRINSIC
Pfam:zf-DHHC 125 255 3.8e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150679
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152396
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
low complexity region 136 149 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155778
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,043,234 Y322H probably benign Het
Aldh1a1 C A 19: 20,623,422 T201K probably damaging Het
Ankrd26 T C 6: 118,539,724 E493G possibly damaging Het
Armc8 A G 9: 99,496,149 probably null Het
Bicc1 A T 10: 70,940,520 V701E probably damaging Het
Car11 T A 7: 45,702,621 probably null Het
Celsr1 C G 15: 86,030,767 V1002L probably damaging Het
Clpx T A 9: 65,329,830 S597T probably benign Het
Cyr61 A C 3: 145,648,697 V153G probably damaging Het
Dmpk A G 7: 19,092,600 M545V probably benign Het
Dnah7c C G 1: 46,739,668 D3139E probably benign Het
Drd5 T A 5: 38,319,835 V57D possibly damaging Het
Epc2 A G 2: 49,451,891 N29S possibly damaging Het
Ercc3 T C 18: 32,265,714 V682A probably damaging Het
Fam186a T C 15: 99,947,050 K438E unknown Het
Farp1 T A 14: 121,275,382 I764N probably damaging Het
Flvcr2 A T 12: 85,747,476 I209F probably benign Het
Fndc3b C T 3: 27,426,153 V1065M probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gp6 C A 7: 4,394,131 D102Y probably damaging Het
Gpc5 T C 14: 115,092,747 L114P probably benign Het
Kcnq3 T A 15: 65,997,750 E613V probably damaging Het
Krt74 T G 15: 101,756,760 noncoding transcript Het
Lipe T C 7: 25,383,325 T801A probably benign Het
Lman1l A T 9: 57,611,866 F266I probably benign Het
Lrp1 A G 10: 127,593,839 V454A probably damaging Het
Lsm14a T C 7: 34,353,510 D338G probably damaging Het
Mctp1 T C 13: 77,024,783 silent Het
Mgea5 A G 19: 45,776,999 I123T probably damaging Het
Nlrp4a G A 7: 26,457,030 A727T probably benign Het
Nrgn T C 9: 37,546,048 S48G probably benign Het
Olfr1246 T C 2: 89,590,725 Y130C probably damaging Het
Olfr370 T C 8: 83,541,344 S67P probably damaging Het
Olfr564 A G 7: 102,803,993 S172G probably benign Het
Pdia6 A G 12: 17,278,593 E183G probably benign Het
Pign T A 1: 105,589,315 I529F probably benign Het
Plscr5 A T 9: 92,205,511 K178* probably null Het
Samm50 T G 15: 84,214,128 I456S probably benign Het
Sesn1 A G 10: 41,811,271 R84G probably benign Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Spag17 G T 3: 100,056,166 D1067Y probably damaging Het
Sptan1 C T 2: 29,990,993 Q425* probably null Het
Srrm4 T A 5: 116,591,359 I36F unknown Het
Tas1r2 A T 4: 139,659,796 S189C probably damaging Het
Tep1 A G 14: 50,853,605 V690A possibly damaging Het
Trmo T C 4: 46,382,073 K348R probably benign Het
Trmu T A 15: 85,882,698 M36K probably damaging Het
Ubr4 A G 4: 139,452,648 T3380A possibly damaging Het
Unc79 A C 12: 103,171,572 T2425P probably damaging Het
Vmn2r12 G A 5: 109,092,800 T149I probably benign Het
Vwa3a A C 7: 120,790,143 K68T probably damaging Het
Yif1a T C 19: 5,088,750 probably null Het
Zbtb44 A T 9: 31,054,052 T253S probably damaging Het
Zfp189 T A 4: 49,530,153 F419I probably benign Het
Zfp663 T C 2: 165,353,009 D430G probably benign Het
Zfp709 T G 8: 71,889,991 probably null Het
Other mutations in Zdhhc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Zdhhc3 APN 9 123100477 missense probably benign 0.02
IGL02597:Zdhhc3 APN 9 123100391 missense probably damaging 1.00
IGL03036:Zdhhc3 APN 9 123100517 missense probably damaging 1.00
LCD18:Zdhhc3 UTSW 9 123083022 intron probably benign
R0787:Zdhhc3 UTSW 9 123083623 nonsense probably null
R2049:Zdhhc3 UTSW 9 123100537 missense probably damaging 1.00
R4904:Zdhhc3 UTSW 9 123100387 missense probably damaging 1.00
R5418:Zdhhc3 UTSW 9 123080391 missense probably damaging 1.00
R5886:Zdhhc3 UTSW 9 123091081 missense probably benign 0.01
R8379:Zdhhc3 UTSW 9 123089078 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGAGCAGCTTACGTTTTCACC -3'
(R):5'- AGTACCTCCAGCCAGAGAAG -3'

Sequencing Primer
(F):5'- CATCCCCAAGATCCATGGAGGG -3'
(R):5'- TCCAGCCAGAGAAGTGTGC -3'
Posted On2016-11-08