Incidental Mutation 'R4298:Zdhhc4'
| ID |
323423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc4
|
| Ensembl Gene |
ENSMUSG00000001844 |
| Gene Name |
zinc finger, DHHC domain containing 4 |
| Synonyms |
1810021D01Rik, 2900029I10Rik |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143302244-143315007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143309997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001900]
[ENSMUST00000159813]
[ENSMUST00000159941]
[ENSMUST00000162066]
[ENSMUST00000161915]
[ENSMUST00000162358]
[ENSMUST00000162941]
|
| AlphaFold |
Q9D6H5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001900
AA Change: V87A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844
AA Change: V87A
| 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 damaging
Transcript: ENSMUST00000159813
AA Change: V87A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000159941
AA Change: V87A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124026
Gene: ENSMUSG00000001844
AA Change: V87A
| 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: ENSMUST00000161199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161333
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162066
AA Change: V87A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125130
Gene: ENSMUSG00000001844
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161915
AA Change: V87A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844
AA Change: V87A
| 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 damaging
Transcript: ENSMUST00000162358
AA Change: V87A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124416
Gene: ENSMUSG00000001844
AA Change: V87A
| 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 |
possibly damaging
Transcript: ENSMUST00000162941
AA Change: V87A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124997
Gene: ENSMUSG00000001844
AA Change: V87A
| 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 |
noncoding transcript
Transcript: ENSMUST00000162287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162284
|
| Meta Mutation Damage Score |
0.8616 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
|
R4305:Zdhhc4
|
UTSW |
5 |
143,310,099 (GRCm39) |
intron |
probably benign |
|
|
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'- TCAGAACATCTCACACTGGTG -3'
(R):5'- TAACCCTTACAGGAGGAGGTTG -3'
Sequencing Primer
(F):5'- TGGAACCGTAACATGGTCTC -3'
(R):5'- AGGAGGAGGTTGGCCCG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation