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)
|
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
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 |
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
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 |
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: ENSMUST00000223768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
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: ENSMUST00000169775
|
SMART Domains |
Protein: ENSMUSP00000128234 Gene: ENSMUSG00000025159
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |