Incidental Mutation 'IGL01368:Zdhhc16'
ID76030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc16
Ensembl Gene ENSMUSG00000025157
Gene Namezinc finger, DHHC domain containing 16
Synonyms1500015N03Rik, Abl-philin 2, APH2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.595) question?
Stock #IGL01368
Quality Score
Status
Chromosome19
Chromosomal Location41933480-41944104 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 41941506 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026154] [ENSMUST00000026168] [ENSMUST00000163287] [ENSMUST00000163398] [ENSMUST00000164776] [ENSMUST00000167927] [ENSMUST00000171561] [ENSMUST00000225968] [ENSMUST00000224896] [ENSMUST00000223802] [ENSMUST00000224562] [ENSMUST00000224258]
Predicted Effect probably null
Transcript: ENSMUST00000026154
SMART Domains Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157

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 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: ENSMUST00000169779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170209
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 noncoding transcript
Transcript: ENSMUST00000223624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223785
Predicted Effect probably benign
Transcript: ENSMUST00000225968
Predicted Effect probably benign
Transcript: ENSMUST00000224896
Predicted Effect probably null
Transcript: ENSMUST00000223802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225433
Predicted Effect probably benign
Transcript: ENSMUST00000224537
Predicted Effect probably benign
Transcript: ENSMUST00000224562
Predicted Effect probably benign
Transcript: ENSMUST00000224258
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Other mutations in Zdhhc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Zdhhc16 APN 19 41939660 missense probably benign 0.29
IGL01290:Zdhhc16 APN 19 41938048 splice site probably null
IGL02191:Zdhhc16 APN 19 41937691 nonsense probably null
FR4342:Zdhhc16 UTSW 19 41942149 intron probably benign
FR4548:Zdhhc16 UTSW 19 41942168 frame shift probably null
PIT4458001:Zdhhc16 UTSW 19 41937770 missense possibly damaging 0.66
R1258:Zdhhc16 UTSW 19 41938044 missense possibly damaging 0.64
R1335:Zdhhc16 UTSW 19 41940634 splice site probably null
R1757:Zdhhc16 UTSW 19 41941955 missense probably damaging 1.00
R3833:Zdhhc16 UTSW 19 41938114 critical splice donor site probably null
R4381:Zdhhc16 UTSW 19 41940654 missense possibly damaging 0.63
R4615:Zdhhc16 UTSW 19 41943683 missense possibly damaging 0.74
R5789:Zdhhc16 UTSW 19 41938133 missense probably damaging 1.00
R6177:Zdhhc16 UTSW 19 41937759 missense probably benign 0.06
R7252:Zdhhc16 UTSW 19 41941551 missense probably damaging 1.00
R8458:Zdhhc16 UTSW 19 41939654 missense probably damaging 0.99
R8991:Zdhhc16 UTSW 19 41938026 missense probably damaging 1.00
Posted On2013-10-07