Incidental Mutation 'R4615:Zdhhc16'
ID 345058
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 041826-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 41921919-41932543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41932122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 358 (V358A)
Ref Sequence ENSEMBL: ENSMUSP00000026154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000171561] [ENSMUST00000167927] [ENSMUST00000223802] [ENSMUST00000169775] [ENSMUST00000167820] [ENSMUST00000225968] [ENSMUST00000224562]
AlphaFold Q9ESG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000026154
AA Change: V358A

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: V358A

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 noncoding transcript
Transcript: ENSMUST00000165043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223624
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: ENSMUST00000167927
SMART Domains Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 313 4.6e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223768
Predicted Effect probably benign
Transcript: ENSMUST00000223802
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 probably benign
Transcript: ENSMUST00000169775
SMART Domains Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_N 51 167 1.5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223785
Predicted Effect probably benign
Transcript: ENSMUST00000167820
SMART Domains Protein: ENSMUSP00000130399
Gene: ENSMUSG00000025159

DomainStartEndE-ValueType
Pfam:MMS19_C 63 286 7.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225433
Predicted Effect probably benign
Transcript: ENSMUST00000224537
Predicted Effect probably benign
Transcript: ENSMUST00000224562
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign 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
R4381:Zdhhc16 UTSW 19 41,929,093 (GRCm39) missense possibly damaging 0.63
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'- CTTGCTGCAGGGAAAATGGG -3'
(R):5'- CTGGAGCTAAAACTTATTTGCCTG -3'

Sequencing Primer
(F):5'- TGGGAAGGACAACCAAGAACTG -3'
(R):5'- AGGGACTTCAATCCTTGAGTTTC -3'
Posted On 2015-09-25