Incidental Mutation 'IGL02322:Zdhhc3'
ID288294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc3
Ensembl Gene ENSMUSG00000025786
Gene Namezinc finger, DHHC domain containing 3
SynonymsGODZ, 1810006O10Rik, Zfp373, 2210017C02Rik, 1110020O22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02322
Quality Score
Status
Chromosome9
Chromosomal Location123066160-123113205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 123100477 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 31 (G31D)
Ref Sequence ENSEMBL: ENSMUSP00000116222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026892] [ENSMUST00000123937] [ENSMUST00000129862] [ENSMUST00000130717] [ENSMUST00000138622] [ENSMUST00000140497] [ENSMUST00000147563] [ENSMUST00000150679] [ENSMUST00000152396] [ENSMUST00000155778]
Predicted Effect probably benign
Transcript: ENSMUST00000026892
AA Change: G31D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000123937
AA Change: G31D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
AA Change: G31D

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 probably benign
Transcript: ENSMUST00000129862
SMART Domains Protein: ENSMUSP00000119360
Gene: ENSMUSG00000025786

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130717
AA Change: G31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
AA Change: G31D

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138622
AA Change: G31D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000140497
AA Change: G31D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000147563
AA Change: G31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000150679
AA Change: G31D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000152396
AA Change: G31D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: G31D

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 benign
Transcript: ENSMUST00000155778
AA Change: G31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
AA Change: G31D

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 105,698,636 A355V probably benign Het
Adam9 A G 8: 24,955,974 V801A probably damaging Het
Ankrd36 T A 11: 5,614,619 V479D possibly damaging Het
Arid5a C T 1: 36,319,416 P423L probably benign Het
Atp13a4 T C 16: 29,440,102 I650V probably benign Het
B4gat1 C A 19: 5,039,127 P51T possibly damaging Het
Caskin2 G A 11: 115,804,477 T310M probably damaging Het
Ccdc121 A G 1: 181,510,434 S318P possibly damaging Het
Ccdc159 G T 9: 21,929,373 V79L possibly damaging Het
Ccser2 A T 14: 36,909,129 V18E probably damaging Het
Cct8l1 T C 5: 25,517,583 V432A probably benign Het
Cdh11 A T 8: 102,647,519 F529Y probably benign Het
Cep250 A G 2: 155,990,328 E1370G probably damaging Het
Col22a1 C A 15: 71,822,653 G717C unknown Het
Csmd2 T C 4: 128,463,727 probably benign Het
Ctrb1 A C 8: 111,689,319 probably null Het
Cyp2b19 T C 7: 26,762,378 S208P possibly damaging Het
Dnmt3l T A 10: 78,052,738 I158N possibly damaging Het
Evi5l T C 8: 4,187,236 probably benign Het
Fkbpl A G 17: 34,645,324 E22G probably benign Het
Flnb T A 14: 7,894,676 F825I probably damaging Het
Gjb6 A T 14: 57,124,275 N176K probably damaging Het
Gpc2 G T 5: 138,276,237 probably null Het
H1fnt T C 15: 98,256,876 T131A possibly damaging Het
Il20 C T 1: 130,909,576 C104Y probably damaging Het
Mgat5 A G 1: 127,382,985 N212S probably benign Het
Olfm5 C T 7: 104,154,401 G210D probably damaging Het
Olfr1226 T A 2: 89,193,462 T191S probably damaging Het
Olfr1387 A G 11: 49,459,957 S93G probably benign Het
Olig2 T C 16: 91,226,658 S87P probably benign Het
Osbpl7 G T 11: 97,056,124 A418S probably benign Het
Otog G T 7: 46,301,457 R2551L probably benign Het
Oxt A T 2: 130,576,280 N24I probably damaging Het
Pibf1 A G 14: 99,210,983 Y626C probably damaging Het
Plekhh2 A T 17: 84,589,466 K934* probably null Het
Pramef17 G A 4: 143,992,021 probably benign Het
Prdm9 A T 17: 15,562,848 N57K probably damaging Het
Rapsn A G 2: 91,041,906 D195G possibly damaging Het
Rimbp3 T G 16: 17,211,615 F968V probably benign Het
Rpgrip1 A G 14: 52,150,042 N1047S possibly damaging Het
Slc35g1 C T 19: 38,400,565 R107* probably null Het
Ssh2 A C 11: 77,416,413 probably null Het
Tiparp C A 3: 65,532,020 C70* probably null Het
Vmn2r110 A G 17: 20,573,935 I824T probably damaging Het
Vmn2r78 T C 7: 86,921,479 S402P probably damaging Het
Vps13c A G 9: 67,937,901 E2089G probably benign Het
Xirp2 A T 2: 67,508,738 H441L probably benign Het
Zfp330 A G 8: 82,770,821 L64S probably damaging Het
Other mutations in Zdhhc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5639:Zdhhc3 UTSW 9 123100345 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
Posted On2015-04-16