Incidental Mutation 'IGL02191:Zdhhc16'
| ID |
283878 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc16
|
| Ensembl Gene |
ENSMUSG00000025157 |
| Gene Name |
zinc finger, DHHC domain containing 16 |
| Synonyms |
1500015N03Rik, Ablphilin 2, Abl-philin 2, APH2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.595)
|
| Stock # |
IGL02191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41921919-41932543 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 41926130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 8
(C8*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000075280]
[ENSMUST00000112123]
[ENSMUST00000167927]
[ENSMUST00000171561]
[ENSMUST00000224562]
[ENSMUST00000224896]
[ENSMUST00000224258]
[ENSMUST00000225968]
[ENSMUST00000223802]
|
| AlphaFold |
Q9ESG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026154
AA Change: C28*
|
| SMART Domains |
Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: C28*
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000075280
|
| SMART Domains |
Protein: ENSMUSP00000074756
Gene: ENSMUSG00000034321
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECR1_N
|
8 |
44 |
3.8e-12 |
PFAM |
|
S1
|
66 |
147 |
3.75e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112123
|
| SMART Domains |
Protein: ENSMUSP00000107751
Gene: ENSMUSG00000034321
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECR1_N
|
7 |
41 |
3.9e-14 |
PFAM |
|
Pfam:EXOSC1
|
64 |
94 |
7.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167927
|
| SMART Domains |
Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
313 |
4.6e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171561
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably null
Transcript: ENSMUST00000224562
AA Change: C28*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224896
AA Change: C28*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224258
AA Change: C28*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225968
AA Change: C8*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225433
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223785
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
| C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
| Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
| Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
| Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
| Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
| Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
| Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Zdhhc16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation