Incidental Mutation 'R5789:Zdhhc16'
| ID |
448242 |
| 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 |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.595)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41921919-41932543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41926572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 98
(H98Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000075280]
[ENSMUST00000112123]
[ENSMUST00000167927]
[ENSMUST00000171561]
[ENSMUST00000225968]
[ENSMUST00000224562]
[ENSMUST00000223802]
[ENSMUST00000224896]
[ENSMUST00000224258]
|
| AlphaFold |
Q9ESG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026154
AA Change: H118Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026154
Gene: ENSMUSG00000025157
AA Change: H118Q
| 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 damaging
Transcript: ENSMUST00000225968
AA Change: H98Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224562
AA Change: H118Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225433
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223785
|
| Meta Mutation Damage Score |
0.7106 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
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 |
|
R4615:Zdhhc16
|
UTSW |
19 |
41,932,122 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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'- TTACACTGAGCTTTGGAGGC -3'
(R):5'- GATTTCTGCCTCCAAAGATCCC -3'
Sequencing Primer
(F):5'- TGGAGGCATCTTACAAAGCTCTG -3'
(R):5'- TTTCTGCCTCCAAAGATCCCAAATC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation