Incidental Mutation 'R4904:Zdhhc3'
ID378040
Institutional Source Beutler Lab
Gene Symbol Zdhhc3
Ensembl Gene ENSMUSG00000025786
Gene Namezinc finger, DHHC domain containing 3
SynonymsGODZ, 1810006O10Rik, Zfp373, 2210017C02Rik, 1110020O22Rik
MMRRC Submission 042507-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4904 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location123066160-123113205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123100387 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 61 (V61E)
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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
AA Change: V61E

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 damaging
Transcript: ENSMUST00000130717
AA Change: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: V61E

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: V61E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
AA Change: V61E

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Meta Mutation Damage Score 0.8651 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 130,012,539 I920S possibly damaging Het
Afap1l1 A G 18: 61,738,715 I556T probably benign Het
Ankfy1 C A 11: 72,752,105 H665N probably benign Het
Aqp9 A C 9: 71,162,403 probably benign Het
Arhgap21 A G 2: 20,850,061 S1497P probably benign Het
Armc7 A G 11: 115,488,974 D166G probably damaging Het
Arrdc1 C A 2: 24,926,664 V167F possibly damaging Het
AW822073 T A 10: 58,223,487 R482* probably null Het
Col6a3 A T 1: 90,801,442 I1259N probably damaging Het
Coq8a C T 1: 180,178,603 R207Q probably damaging Het
Cybb C G X: 9,450,750 D246H probably benign Het
Dcbld1 C T 10: 52,319,970 Q425* probably null Het
Def8 A G 8: 123,461,480 N445D probably damaging Het
Dicer1 C T 12: 104,713,066 V551I probably benign Het
Dst A T 1: 34,169,798 T800S probably damaging Het
Dtl A T 1: 191,568,345 C136S probably damaging Het
Duox1 T A 2: 122,320,864 Y310N probably damaging Het
Ebf1 T C 11: 44,869,169 F211S probably damaging Het
Gm44501 A T 17: 40,578,993 I133F possibly damaging Het
Gm6625 T C 8: 89,146,751 noncoding transcript Het
Golgb1 A T 16: 36,893,386 D243V probably damaging Het
Gprc5c G T 11: 114,864,267 V257L possibly damaging Het
Gtf2a1l G A 17: 88,690,043 probably null Het
Herc2 T C 7: 56,157,486 F2471L probably damaging Het
Hfe A T 13: 23,708,054 I109N probably damaging Het
Hrg A G 16: 22,951,250 E43G probably benign Het
Hspa1a T C 17: 34,970,451 D492G probably damaging Het
Itgb8 T C 12: 119,170,871 D487G probably benign Het
Jag1 A G 2: 137,087,142 V798A probably damaging Het
Kcnq5 A G 1: 21,424,100 V501A probably damaging Het
Kntc1 T C 5: 123,778,333 V743A possibly damaging Het
Ly86 G T 13: 37,415,520 V126F possibly damaging Het
Med26 A T 8: 72,496,847 L136H probably damaging Het
Mpp3 T C 11: 102,000,587 D575G probably benign Het
Myoc G A 1: 162,639,425 M54I probably benign Het
Nlrp1c-ps A G 11: 71,242,628 noncoding transcript Het
Olfr111 A G 17: 37,530,631 Y218C probably damaging Het
Olfr1418 C T 19: 11,855,867 V29M possibly damaging Het
Olfr574 A G 7: 102,949,065 Y190C probably damaging Het
Pak7 A T 2: 136,083,347 D678E probably benign Het
Pcdhb12 T C 18: 37,437,856 V685A possibly damaging Het
Pcdhga2 A G 18: 37,669,879 T259A possibly damaging Het
Pde6a A T 18: 61,265,034 M702L probably benign Het
Pigq A G 17: 25,931,060 probably benign Het
Polrmt A G 10: 79,746,551 M1T probably null Het
Ptch1 A C 13: 63,523,004 I904S probably damaging Het
Rflnb A T 11: 76,022,138 C141* probably null Het
Rilpl1 C A 5: 124,514,744 probably null Het
Rpgrip1 T C 14: 52,121,087 S217P possibly damaging Het
Rpgrip1 A T 14: 52,160,129 I1292F probably damaging Het
Sema3a A C 5: 13,581,098 Y534S probably damaging Het
Sez6 A G 11: 77,975,254 Y736C probably damaging Het
Shank1 G T 7: 44,334,040 probably benign Het
Slc45a4 G A 15: 73,586,842 S294F probably benign Het
Slc9a8 A G 2: 167,471,396 I393V possibly damaging Het
Sod1 T A 16: 90,222,844 F46Y probably damaging Het
Sult1b1 T C 5: 87,535,053 D11G probably benign Het
Syn3 T G 10: 86,467,086 K68N possibly damaging Het
Taar8c C T 10: 24,101,249 V222I probably benign Het
Tbx20 T C 9: 24,758,833 K235E probably damaging Het
Tcaf3 C A 6: 42,593,997 E274* probably null Het
Tll1 A T 8: 64,070,199 M493K probably benign Het
Tmem236 T A 2: 14,195,992 S123T probably benign Het
Trim33 T C 3: 103,331,647 V647A possibly damaging Het
Tspear T A 10: 77,869,655 Y296N possibly damaging Het
Vps13d T C 4: 145,155,445 K1187E probably damaging Het
Xpot C T 10: 121,617,178 V52I probably benign Het
Zfp955a A T 17: 33,242,188 C323* 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
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
Predicted Primers PCR Primer
(F):5'- ATCCCCAAGATCCATGGAGG -3'
(R):5'- AGCTTATGATGCTTATCCCCAC -3'

Sequencing Primer
(F):5'- AGCATGCAGGCTATGGC -3'
(R):5'- CCCATCACTTCCGAGACATTGAG -3'
Posted On2016-04-15