Incidental Mutation 'R4305:Zdhhc4'
| ID |
323993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc4
|
| Ensembl Gene |
ENSMUSG00000001844 |
| Gene Name |
zinc finger, DHHC domain containing 4 |
| Synonyms |
1810021D01Rik, 2900029I10Rik |
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
90 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143302244-143315007 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 143310099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001900]
[ENSMUST00000159813]
[ENSMUST00000159941]
[ENSMUST00000161915]
[ENSMUST00000162941]
[ENSMUST00000162358]
[ENSMUST00000162066]
|
| AlphaFold |
Q9D6H5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001900
|
| SMART Domains |
Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
294 |
5e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159813
|
| SMART Domains |
Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
175 |
3.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159941
|
| SMART Domains |
Protein: ENSMUSP00000124026
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
178 |
2.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161915
|
| SMART Domains |
Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
144 |
294 |
9.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162941
|
| SMART Domains |
Protein: ENSMUSP00000124997
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
112 |
176 |
4.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162358
|
| SMART Domains |
Protein: ENSMUSP00000124416
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162066
|
| SMART Domains |
Protein: ENSMUSP00000125130
Gene: ENSMUSG00000001844
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,469,133 (GRCm39) |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,391,991 (GRCm39) |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,211,633 (GRCm39) |
V98A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,639,118 (GRCm39) |
Y372N |
probably benign |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,346,883 (GRCm39) |
|
probably null |
Het |
| Garin1b |
A |
G |
6: 29,326,611 (GRCm39) |
S243G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,430,880 (GRCm39) |
E394G |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,476,381 (GRCm39) |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,780,168 (GRCm39) |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,689,827 (GRCm39) |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,438,836 (GRCm39) |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,367,936 (GRCm39) |
D657G |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,643 (GRCm39) |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,681 (GRCm39) |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,360 (GRCm39) |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,976 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,027,172 (GRCm39) |
T808A |
probably damaging |
Het |
|
| Other mutations in Zdhhc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02686:Zdhhc4
|
APN |
5 |
143,306,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Zdhhc4
|
UTSW |
5 |
143,307,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Zdhhc4
|
UTSW |
5 |
143,310,017 (GRCm39) |
nonsense |
probably null |
|
|
R2228:Zdhhc4
|
UTSW |
5 |
143,306,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4298:Zdhhc4
|
UTSW |
5 |
143,309,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4722:Zdhhc4
|
UTSW |
5 |
143,307,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Zdhhc4
|
UTSW |
5 |
143,311,931 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5000:Zdhhc4
|
UTSW |
5 |
143,310,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5063:Zdhhc4
|
UTSW |
5 |
143,302,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Zdhhc4
|
UTSW |
5 |
143,311,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5945:Zdhhc4
|
UTSW |
5 |
143,310,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Zdhhc4
|
UTSW |
5 |
143,310,604 (GRCm39) |
intron |
probably benign |
|
|
R7284:Zdhhc4
|
UTSW |
5 |
143,307,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7843:Zdhhc4
|
UTSW |
5 |
143,306,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7955:Zdhhc4
|
UTSW |
5 |
143,307,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Zdhhc4
|
UTSW |
5 |
143,307,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCAGCACATAGGGCAG -3'
(R):5'- CCTACATGGCCAGTTTGTTGTC -3'
Sequencing Primer
(F):5'- CAGCACATAGGGCAGGAGAAG -3'
(R):5'- TCTGAGACATGCTTCTGAGACAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation