Incidental Mutation 'IGL00230:Zdhhc16'
ID |
2048 |
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: 0.613)
|
Stock # |
IGL00230
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41921919-41932543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41928099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 206
(F206S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167927]
[ENSMUST00000224562]
[ENSMUST00000225968]
[ENSMUST00000224896]
[ENSMUST00000224258]
[ENSMUST00000223802]
[ENSMUST00000171561]
|
AlphaFold |
Q9ESG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026154
AA Change: F206S
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026154 Gene: ENSMUSG00000025157 AA Change: F206S
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: ENSMUST00000170209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224537
AA Change: F80S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224562
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223785
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225433
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bin1 |
C |
T |
18: 32,553,160 (GRCm39) |
A215V |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,156,704 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
C |
T |
4: 96,424,283 (GRCm39) |
R158H |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,243,540 (GRCm39) |
D507G |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,620,149 (GRCm39) |
E245G |
possibly damaging |
Het |
Gal3st1 |
A |
T |
11: 3,949,070 (GRCm39) |
|
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,888,985 (GRCm39) |
Q195L |
probably benign |
Het |
Gfm2 |
A |
G |
13: 97,291,950 (GRCm39) |
T229A |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,521,007 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
G |
T |
7: 115,682,789 (GRCm39) |
T264K |
probably damaging |
Het |
Gsk3b |
A |
T |
16: 38,049,069 (GRCm39) |
I389F |
probably benign |
Het |
H2bc14 |
G |
T |
13: 21,906,545 (GRCm39) |
R93L |
possibly damaging |
Het |
Htt |
A |
G |
5: 34,956,752 (GRCm39) |
T194A |
probably benign |
Het |
Ighg3 |
T |
C |
12: 113,323,457 (GRCm39) |
Y273C |
unknown |
Het |
Kdm5b |
T |
A |
1: 134,548,693 (GRCm39) |
V1066D |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,982,656 (GRCm39) |
A707E |
probably damaging |
Het |
Mars1 |
A |
G |
10: 127,133,875 (GRCm39) |
M674T |
probably benign |
Het |
Mas1 |
T |
C |
17: 13,060,877 (GRCm39) |
D182G |
probably benign |
Het |
Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
Ninl |
T |
C |
2: 150,808,161 (GRCm39) |
E289G |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,551,958 (GRCm39) |
G264V |
possibly damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,461,385 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,853,413 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
C |
11: 117,245,630 (GRCm39) |
|
probably benign |
Het |
Sgpp1 |
G |
T |
12: 75,762,968 (GRCm39) |
Y404* |
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,392,930 (GRCm39) |
I788V |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,266,759 (GRCm39) |
M112K |
probably benign |
Het |
Slc22a29 |
T |
C |
19: 8,195,177 (GRCm39) |
M153V |
probably benign |
Het |
Slc9c1 |
T |
G |
16: 45,393,752 (GRCm39) |
V565G |
possibly damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Tec |
C |
T |
5: 72,926,111 (GRCm39) |
A314T |
probably damaging |
Het |
Tg |
A |
G |
15: 66,699,139 (GRCm39) |
I803V |
probably benign |
Het |
Trav9-1 |
A |
T |
14: 53,725,850 (GRCm39) |
I55F |
probably benign |
Het |
Ttll12 |
C |
A |
15: 83,462,857 (GRCm39) |
E536D |
probably benign |
Het |
Ubqln1 |
C |
A |
13: 58,325,806 (GRCm39) |
E152* |
probably null |
Het |
Wwtr1 |
G |
A |
3: 57,370,912 (GRCm39) |
T338I |
probably benign |
Het |
|
Other mutations in Zdhhc16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-12-09 |