Incidental Mutation 'R5144:Zdhhc6'
| ID |
395066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc6
|
| Ensembl Gene |
ENSMUSG00000024982 |
| Gene Name |
zinc finger, DHHC domain containing 6 |
| Synonyms |
5930409M18Rik |
| MMRRC Submission |
042728-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55286648-55304468 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 55302998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076891]
[ENSMUST00000095950]
[ENSMUST00000223690]
[ENSMUST00000223807]
[ENSMUST00000224291]
[ENSMUST00000224897]
[ENSMUST00000225963]
[ENSMUST00000226103]
[ENSMUST00000225495]
[ENSMUST00000225529]
|
| AlphaFold |
Q9CPV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076891
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
AA Change: M1K
| 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 null
Transcript: ENSMUST00000223807
AA Change: M1K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224291
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224474
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224897
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225963
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226103
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225495
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225051
|
| Meta Mutation Damage Score |
0.9731 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,604 (GRCm39) |
|
probably benign |
Het |
| Arpc2 |
A |
T |
1: 74,287,367 (GRCm39) |
K62N |
probably damaging |
Het |
| B4galt5 |
C |
T |
2: 167,148,516 (GRCm39) |
E201K |
possibly damaging |
Het |
| Bub1b |
C |
T |
2: 118,445,980 (GRCm39) |
T334M |
possibly damaging |
Het |
| Ccdc71 |
T |
C |
9: 108,341,051 (GRCm39) |
V288A |
probably benign |
Het |
| Cep350 |
G |
A |
1: 155,786,896 (GRCm39) |
R1444W |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,623 (GRCm39) |
L605P |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,482 (GRCm39) |
I1813F |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,278,434 (GRCm39) |
I821V |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,847 (GRCm39) |
D43G |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,560,598 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,137,666 (GRCm39) |
V216A |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,020,325 (GRCm39) |
N598K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,162,238 (GRCm39) |
T195A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,058,895 (GRCm39) |
V1883A |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,935 (GRCm39) |
D150V |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,864 (GRCm39) |
Y328F |
probably damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,337,059 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
G |
11: 62,240,290 (GRCm39) |
S894R |
probably damaging |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,254,650 (GRCm39) |
T194A |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,156 (GRCm39) |
T33S |
probably benign |
Het |
| Or8b53 |
C |
T |
9: 38,667,689 (GRCm39) |
S235L |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,703 (GRCm39) |
R102S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,021 (GRCm39) |
N1332S |
probably benign |
Het |
| Plppr1 |
T |
A |
4: 49,319,800 (GRCm39) |
V142E |
possibly damaging |
Het |
| Prdm6 |
C |
A |
18: 53,598,110 (GRCm39) |
|
probably benign |
Het |
| Prm2 |
T |
A |
16: 10,609,732 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,435,883 (GRCm39) |
S155P |
possibly damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,793 (GRCm39) |
Y481H |
probably benign |
Het |
| Rgs2 |
G |
A |
1: 143,877,437 (GRCm39) |
T206M |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,871,785 (GRCm39) |
R56H |
probably damaging |
Het |
| Spmip11 |
C |
A |
15: 98,483,148 (GRCm39) |
|
probably null |
Het |
| Stk35 |
T |
A |
2: 129,652,855 (GRCm39) |
M452K |
probably damaging |
Het |
| Tcf3 |
G |
A |
10: 80,251,071 (GRCm39) |
H454Y |
probably damaging |
Het |
| Tgm3 |
C |
T |
2: 129,890,202 (GRCm39) |
S655F |
possibly damaging |
Het |
| Tssc4 |
T |
G |
7: 142,623,770 (GRCm39) |
L26R |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,572,695 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
C |
G |
17: 21,534,688 (GRCm39) |
A137G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps8 |
T |
C |
16: 21,378,103 (GRCm39) |
L1038P |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,462,660 (GRCm39) |
A290V |
probably damaging |
Het |
| Zdhhc25 |
T |
G |
15: 88,485,259 (GRCm39) |
L198R |
probably damaging |
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 |
|
R0920:Zdhhc6
|
UTSW |
19 |
55,300,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACCAGCAAACATGGCATTG -3'
(R):5'- AGAGTTCTGGAGGCCACAAC -3'
Sequencing Primer
(F):5'- CATGACGGTCCAATTTATCAACATG -3'
(R):5'- TTCTGGAGGCCACAACTGAAAATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation