Incidental Mutation 'R0920:Zdhhc6'
| ID |
82841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc6
|
| Ensembl Gene |
ENSMUSG00000024982 |
| Gene Name |
zinc finger, DHHC domain containing 6 |
| Synonyms |
5930409M18Rik |
| MMRRC Submission |
039070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55286648-55304468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55300133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 148
(L148H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076891]
[ENSMUST00000095950]
[ENSMUST00000223690]
[ENSMUST00000223807]
[ENSMUST00000224291]
[ENSMUST00000224897]
[ENSMUST00000226103]
[ENSMUST00000225495]
[ENSMUST00000225963]
[ENSMUST00000225529]
|
| AlphaFold |
Q9CPV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076891
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: L148H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
19 |
41 |
N/A |
INTRINSIC |
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
94 |
244 |
3.2e-38 |
PFAM |
|
SH3
|
316 |
397 |
5.84e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095950
|
| SMART Domains |
Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-SNARE
|
12 |
90 |
7.3e-29 |
PFAM |
|
t_SNARE
|
117 |
184 |
4.61e-10 |
SMART |
|
low complexity region
|
193 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223807
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224291
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224474
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224897
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226103
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225495
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225963
AA Change: L148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225051
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225392
|
| Meta Mutation Damage Score |
0.9454 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
| Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
| Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
| Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
| Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
| Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
| Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
| Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
|
| Other mutations in Zdhhc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Zdhhc6
|
APN |
19 |
55,298,324 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01419:Zdhhc6
|
APN |
19 |
55,298,186 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02598:Zdhhc6
|
APN |
19 |
55,302,959 (GRCm39) |
missense |
probably benign |
0.31 |
|
Chalcogenide
|
UTSW |
19 |
55,300,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pegmatite
|
UTSW |
19 |
55,292,871 (GRCm39) |
nonsense |
probably null |
|
|
telluride
|
UTSW |
19 |
55,302,998 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0267:Zdhhc6
|
UTSW |
19 |
55,297,362 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2143:Zdhhc6
|
UTSW |
19 |
55,287,228 (GRCm39) |
missense |
probably benign |
|
|
R4445:Zdhhc6
|
UTSW |
19 |
55,291,169 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4446:Zdhhc6
|
UTSW |
19 |
55,291,169 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4632:Zdhhc6
|
UTSW |
19 |
55,302,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Zdhhc6
|
UTSW |
19 |
55,301,642 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5144:Zdhhc6
|
UTSW |
19 |
55,302,998 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7067:Zdhhc6
|
UTSW |
19 |
55,292,871 (GRCm39) |
nonsense |
probably null |
|
|
R7266:Zdhhc6
|
UTSW |
19 |
55,292,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Zdhhc6
|
UTSW |
19 |
55,301,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Zdhhc6
|
UTSW |
19 |
55,291,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8425:Zdhhc6
|
UTSW |
19 |
55,302,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8889:Zdhhc6
|
UTSW |
19 |
55,290,987 (GRCm39) |
splice site |
probably benign |
|
|
R8892:Zdhhc6
|
UTSW |
19 |
55,290,987 (GRCm39) |
splice site |
probably benign |
|
|
R8962:Zdhhc6
|
UTSW |
19 |
55,287,239 (GRCm39) |
missense |
probably benign |
|
|
R9015:Zdhhc6
|
UTSW |
19 |
55,287,318 (GRCm39) |
missense |
probably benign |
|
|
R9128:Zdhhc6
|
UTSW |
19 |
55,301,680 (GRCm39) |
nonsense |
probably null |
|
|
R9785:Zdhhc6
|
UTSW |
19 |
55,300,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAAGGGACCCTGTCAATGACC -3'
(R):5'- GACTGTATGTCAGTCTGCTGAGCC -3'
Sequencing Primer
(F):5'- CTTGATAAGGTCACTCCATGAGC -3'
(R):5'- TCTGCTGAGCCTAAGGACTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation