Incidental Mutation 'IGL01368:Zdhhc16'
| ID |
76030 |
| 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 # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41921919-41932543 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 41929945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167927]
[ENSMUST00000225968]
[ENSMUST00000171561]
[ENSMUST00000224896]
[ENSMUST00000223802]
[ENSMUST00000224562]
[ENSMUST00000224258]
|
| AlphaFold |
Q9ESG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026154
|
| SMART Domains |
Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
| 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: ENSMUST00000026168
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_C
|
102 |
494 |
2.2e-97 |
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 |
noncoding transcript
Transcript: ENSMUST00000169779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
| 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: ENSMUST00000223785
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation