Incidental Mutation 'R4465:Zdhhc22'
ID 330311
Institutional Source Beutler Lab
Gene Symbol Zdhhc22
Ensembl Gene ENSMUSG00000048483
Gene Name zinc finger, DHHC-type containing 22
Synonyms LOC238331
MMRRC Submission 041580-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.727) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87027537-87037204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87034997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 152 (L152F)
Ref Sequence ENSEMBL: ENSMUSP00000152660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095521] [ENSMUST00000222543]
AlphaFold A0PK84
Predicted Effect probably benign
Transcript: ENSMUST00000095521
AA Change: L152F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093177
Gene: ENSMUSG00000048483
AA Change: L152F

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
Pfam:zf-DHHC 79 222 3.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222543
AA Change: L152F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223336
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,168,580 (GRCm39) Y180H probably damaging Het
Adgrb3 G T 1: 25,133,447 (GRCm39) T1213K probably damaging Het
Atrn A G 2: 130,802,388 (GRCm39) T510A probably benign Het
Clasp1 C A 1: 118,488,808 (GRCm39) T857N probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col12a1 C A 9: 79,580,192 (GRCm39) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,890,186 (GRCm39) D285E probably benign Het
Dis3 G A 14: 99,321,550 (GRCm39) S599L possibly damaging Het
Dnah11 T C 12: 117,951,186 (GRCm39) T3041A probably benign Het
Erbin T C 13: 103,981,393 (GRCm39) N511D probably benign Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Gm11541 A T 11: 94,595,048 (GRCm39) C7S unknown Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lao1 C A 4: 118,822,504 (GRCm39) S141R probably benign Het
Lrrk2 A G 15: 91,632,023 (GRCm39) K1316E probably damaging Het
Map3k6 A G 4: 132,973,644 (GRCm39) Y445C possibly damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Ndnf T A 6: 65,681,180 (GRCm39) D486E probably benign Het
Or2a54 T C 6: 43,092,852 (GRCm39) Y59H probably damaging Het
Or8h7 A T 2: 86,721,494 (GRCm39) N8K probably benign Het
Or8k37 A T 2: 86,469,478 (GRCm39) N191K probably benign Het
Rab19 T C 6: 39,365,060 (GRCm39) S107P probably damaging Het
Slc22a29 A T 19: 8,140,088 (GRCm39) L439* probably null Het
Slc5a1 A G 5: 33,303,860 (GRCm39) E225G possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Snx25 A G 8: 46,521,266 (GRCm39) S373P possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Homo
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Zfpm2 T G 15: 40,959,557 (GRCm39) M80R probably benign Het
Other mutations in Zdhhc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0629:Zdhhc22 UTSW 12 87,035,071 (GRCm39) missense probably damaging 0.98
R1836:Zdhhc22 UTSW 12 87,030,204 (GRCm39) missense probably benign 0.31
R2847:Zdhhc22 UTSW 12 87,035,336 (GRCm39) missense probably benign
R3881:Zdhhc22 UTSW 12 87,030,400 (GRCm39) missense probably benign 0.00
R4876:Zdhhc22 UTSW 12 87,035,012 (GRCm39) missense probably damaging 1.00
R5448:Zdhhc22 UTSW 12 87,035,341 (GRCm39) missense possibly damaging 0.95
R7667:Zdhhc22 UTSW 12 87,030,162 (GRCm39) missense probably benign 0.00
R8090:Zdhhc22 UTSW 12 87,030,394 (GRCm39) missense probably benign 0.25
R8420:Zdhhc22 UTSW 12 87,035,143 (GRCm39) missense possibly damaging 0.81
R9150:Zdhhc22 UTSW 12 87,035,192 (GRCm39) missense probably benign 0.00
R9152:Zdhhc22 UTSW 12 87,035,192 (GRCm39) missense probably benign 0.00
R9486:Zdhhc22 UTSW 12 87,030,398 (GRCm39) missense probably benign 0.33
R9635:Zdhhc22 UTSW 12 87,030,396 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GTCATACCAAACAACTGTCTATCTG -3'
(R):5'- ATGTCCCAGAGACCTCAGTG -3'

Sequencing Primer
(F):5'- GACTGTTTGAGTCCAGCATCCTG -3'
(R):5'- GAGACCTCAGTGCCCACC -3'
Posted On 2015-07-21