Incidental Mutation 'R4381:Zdhhc16'
ID 325352
Institutional Source Beutler Lab
Gene Symbol Zdhhc16
Ensembl Gene ENSMUSG00000025157
Gene Name zinc finger, DHHC domain containing 16
Synonyms 1500015N03Rik, Ablphilin 2, Abl-philin 2, APH2
MMRRC Submission 041122-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R4381 (G1)
Quality Score 224
Status Validated
Chromosome 19
Chromosomal Location 41921919-41932543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41929093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 232 (Y232C)
Ref Sequence ENSEMBL: ENSMUSP00000026154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000224562] [ENSMUST00000223802] [ENSMUST00000224896] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000224258] [ENSMUST00000225968]
AlphaFold Q9ESG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000026154
AA Change: Y232C

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: Y232C

DomainStartEndE-ValueType
low complexity region 7 35 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
Pfam:zf-DHHC 151 289 1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026168
SMART Domains Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 167 1.4e-29 PFAM
Pfam:MMS19_N 163 270 2.4e-44 PFAM
low complexity region 329 343 N/A INTRINSIC
Pfam:MMS19_C 484 921 4.3e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163287
SMART Domains Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 3 265 9.8e-97 PFAM
Pfam:MMS19_C 381 818 1e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163398
Predicted Effect probably benign
Transcript: ENSMUST00000164776
Predicted Effect probably benign
Transcript: ENSMUST00000166090
SMART Domains Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_C 102 494 2.2e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170209
Predicted Effect probably benign
Transcript: ENSMUST00000224562
AA Change: Y209C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223785
Predicted Effect probably benign
Transcript: ENSMUST00000223802
Predicted Effect probably benign
Transcript: ENSMUST00000224896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223624
Predicted Effect probably benign
Transcript: ENSMUST00000167927
SMART Domains Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 313 4.6e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171561
SMART Domains Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 312 6.3e-90 PFAM
low complexity region 372 386 N/A INTRINSIC
Pfam:MMS19_C 528 963 3.9e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224258
Predicted Effect probably benign
Transcript: ENSMUST00000224537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225433
Predicted Effect probably benign
Transcript: ENSMUST00000225968
Meta Mutation Damage Score 0.1122 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 95% (41/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Dlgap2 A G 8: 14,896,502 (GRCm39) I993V probably benign Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Eml5 A G 12: 98,782,214 (GRCm39) I1359T possibly damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Gpr158 T A 2: 21,832,403 (GRCm39) W1168R probably damaging Het
Ighv1-62-1 T A 12: 115,350,613 (GRCm39) H18L probably benign Het
Il18r1 A G 1: 40,510,950 (GRCm39) I12V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mib2 G C 4: 155,742,069 (GRCm39) A234G possibly damaging Het
Mtpap T C 18: 4,383,223 (GRCm39) F200S probably benign Het
Nacad T A 11: 6,550,204 (GRCm39) T996S probably benign Het
Nek9 T A 12: 85,376,632 (GRCm39) T250S probably damaging Het
Nif3l1 A C 1: 58,494,738 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,690 (GRCm39) V310A probably benign Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or7g34 A G 9: 19,478,038 (GRCm39) L211P probably benign Het
Pbrm1 T C 14: 30,747,513 (GRCm39) V33A probably benign Het
Pcdha4 A G 18: 37,085,928 (GRCm39) E37G probably damaging Het
Pdgfc A G 3: 81,116,558 (GRCm39) K304R probably damaging Het
Peak1 G T 9: 56,165,711 (GRCm39) A739E probably benign Het
Pla2g4c A T 7: 13,079,990 (GRCm39) N433Y probably damaging Het
Polrmt A C 10: 79,577,642 (GRCm39) L319R possibly damaging Het
Prkaa1 A T 15: 5,206,289 (GRCm39) T373S probably benign Het
Qars1 G A 9: 108,387,382 (GRCm39) probably benign Het
Ranbp1 G A 16: 18,065,208 (GRCm39) L33F probably damaging Het
Rpgrip1 C T 14: 52,387,906 (GRCm39) P1094L possibly damaging Het
Taf1d T A 9: 15,223,277 (GRCm39) probably benign Het
Tstd2 T C 4: 46,119,933 (GRCm39) K340E probably benign Het
Vmn2r45 A T 7: 8,474,912 (GRCm39) C705* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp1 T A 8: 112,397,083 (GRCm39) L354Q probably damaging Het
Zyg11a G A 4: 108,058,517 (GRCm39) A341V possibly damaging Het
Other mutations in Zdhhc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Zdhhc16 APN 19 41,928,099 (GRCm39) missense probably benign 0.29
IGL01290:Zdhhc16 APN 19 41,926,487 (GRCm39) splice site probably null
IGL01368:Zdhhc16 APN 19 41,929,945 (GRCm39) splice site probably null
IGL02191:Zdhhc16 APN 19 41,926,130 (GRCm39) nonsense probably null
FR4342:Zdhhc16 UTSW 19 41,930,588 (GRCm39) intron probably benign
FR4548:Zdhhc16 UTSW 19 41,930,607 (GRCm39) frame shift probably null
PIT4458001:Zdhhc16 UTSW 19 41,926,209 (GRCm39) missense possibly damaging 0.66
R1258:Zdhhc16 UTSW 19 41,926,483 (GRCm39) missense possibly damaging 0.64
R1335:Zdhhc16 UTSW 19 41,929,073 (GRCm39) splice site probably null
R1757:Zdhhc16 UTSW 19 41,930,394 (GRCm39) missense probably damaging 1.00
R3833:Zdhhc16 UTSW 19 41,926,553 (GRCm39) critical splice donor site probably null
R4615:Zdhhc16 UTSW 19 41,932,122 (GRCm39) missense possibly damaging 0.74
R5789:Zdhhc16 UTSW 19 41,926,572 (GRCm39) missense probably damaging 1.00
R6177:Zdhhc16 UTSW 19 41,926,198 (GRCm39) missense probably benign 0.06
R7252:Zdhhc16 UTSW 19 41,929,990 (GRCm39) missense probably damaging 1.00
R8458:Zdhhc16 UTSW 19 41,928,093 (GRCm39) missense probably damaging 0.99
R8991:Zdhhc16 UTSW 19 41,926,465 (GRCm39) missense probably damaging 1.00
R9341:Zdhhc16 UTSW 19 41,926,549 (GRCm39) missense probably benign 0.00
R9343:Zdhhc16 UTSW 19 41,926,549 (GRCm39) missense probably benign 0.00
R9510:Zdhhc16 UTSW 19 41,929,155 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCACTGTCTGTCCATGTG -3'
(R):5'- TAATGCTGCCCTCCCTTAAAATTAC -3'

Sequencing Primer
(F):5'- CCATGTGATGGTGCCACTG -3'
(R):5'- AATTCAAGTCCAGCCTGGTG -3'
Posted On 2015-07-06