Incidental Mutation 'R1317:Zdhhc7'
ID 157569
Institutional Source Beutler Lab
Gene Symbol Zdhhc7
Ensembl Gene ENSMUSG00000031823
Gene Name zinc finger, DHHC domain containing 7
Synonyms
MMRRC Submission 039383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1317 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120807834-120828211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120811639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 188 (H188L)
Ref Sequence ENSEMBL: ENSMUSP00000034280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034280] [ENSMUST00000127664]
AlphaFold Q91WU6
Predicted Effect probably benign
Transcript: ENSMUST00000034280
AA Change: H188L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034280
Gene: ENSMUSG00000031823
AA Change: H188L

DomainStartEndE-ValueType
low complexity region 25 31 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Pfam:zf-DHHC 129 258 9.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124044
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150444
Meta Mutation Damage Score 0.5697 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.7%
  • 20x: 84.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,672 (GRCm39) H1268Y possibly damaging Het
Afdn A G 17: 14,066,535 (GRCm39) T576A probably benign Het
Bcl6 G T 16: 23,796,292 (GRCm39) A45D probably damaging Het
Ccdc7b A T 8: 129,863,127 (GRCm39) H223L probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cryba2 G T 1: 74,929,835 (GRCm39) probably null Het
Depdc1a T C 3: 159,228,924 (GRCm39) C559R probably damaging Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Gm5519 T C 19: 33,802,391 (GRCm39) Y145H possibly damaging Het
Gm9602 T A 14: 15,932,645 (GRCm39) I28N probably damaging Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gpr156 T C 16: 37,807,929 (GRCm39) L192P probably damaging Het
Hnrnpu G A 1: 178,157,822 (GRCm39) probably benign Het
Ifi209 A G 1: 173,465,029 (GRCm39) D53G possibly damaging Het
Irf6 G A 1: 192,851,609 (GRCm39) R400H probably damaging Het
Jag2 T A 12: 112,878,121 (GRCm39) M537L probably benign Het
Mid1 A C X: 168,769,090 (GRCm39) N215H probably damaging Het
Mt1 T C 8: 94,906,781 (GRCm39) probably benign Het
Myo15b C A 11: 115,774,460 (GRCm39) P2024Q probably null Het
Nphs1 C T 7: 30,181,256 (GRCm39) probably benign Het
Rbm27 G A 18: 42,457,116 (GRCm39) probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Scg3 G A 9: 75,576,622 (GRCm39) T251M probably damaging Het
Slc25a23 T C 17: 57,360,888 (GRCm39) K179E possibly damaging Het
Smad5 T C 13: 56,883,884 (GRCm39) probably benign Het
Tom1 T C 8: 75,778,179 (GRCm39) V87A probably benign Het
Trim30b T A 7: 104,006,542 (GRCm39) T105S possibly damaging Het
Tspan32 A G 7: 142,571,328 (GRCm39) M159V probably benign Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Zbtb1 A G 12: 76,433,573 (GRCm39) S520G probably benign Het
Other mutations in Zdhhc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Zdhhc7 APN 8 120,814,662 (GRCm39) missense probably benign
IGL01988:Zdhhc7 APN 8 120,809,329 (GRCm39) missense probably benign 0.00
IGL03407:Zdhhc7 APN 8 120,812,131 (GRCm39) missense probably damaging 0.98
R0362:Zdhhc7 UTSW 8 120,813,386 (GRCm39) missense probably null 0.32
R0588:Zdhhc7 UTSW 8 120,810,106 (GRCm39) intron probably benign
R0629:Zdhhc7 UTSW 8 120,814,785 (GRCm39) missense possibly damaging 0.60
R1224:Zdhhc7 UTSW 8 120,809,311 (GRCm39) missense probably benign
R1796:Zdhhc7 UTSW 8 120,812,157 (GRCm39) missense probably benign 0.04
R5891:Zdhhc7 UTSW 8 120,811,639 (GRCm39) missense probably benign 0.04
R6495:Zdhhc7 UTSW 8 120,813,395 (GRCm39) missense probably benign 0.19
R6711:Zdhhc7 UTSW 8 120,810,066 (GRCm39) missense probably benign 0.04
R6833:Zdhhc7 UTSW 8 120,811,663 (GRCm39) missense probably damaging 1.00
R7083:Zdhhc7 UTSW 8 120,812,166 (GRCm39) missense probably damaging 1.00
R7743:Zdhhc7 UTSW 8 120,813,467 (GRCm39) missense possibly damaging 0.49
R9368:Zdhhc7 UTSW 8 120,814,494 (GRCm39) missense probably damaging 1.00
R9401:Zdhhc7 UTSW 8 120,813,425 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- ATTGGAGTAAGGCTCCCTCCCATC -3'
(R):5'- ACATCACCTGTTGGCTGTACGTTTG -3'

Sequencing Primer
(F):5'- TCCAGGAACCCAGCTCTC -3'
(R):5'- TGTCACCATTGTCATACACAGGG -3'
Posted On 2014-02-18