Incidental Mutation 'R3420:Zdhhc14'
ID |
267020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc14
|
Ensembl Gene |
ENSMUSG00000034265 |
Gene Name |
zinc finger, DHHC domain containing 14 |
Synonyms |
New1cp, B530001K09Rik |
MMRRC Submission |
040638-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R3420 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
5542832-5804086 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to A
at 5803366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Arginine
at position 490
(*490R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086589
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089185]
|
AlphaFold |
Q8BQQ1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089185
AA Change: *490R
|
SMART Domains |
Protein: ENSMUSP00000086589 Gene: ENSMUSG00000034265 AA Change: *490R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
110 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
160 |
289 |
1.8e-38 |
PFAM |
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8580 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
Amn1 |
A |
T |
6: 149,070,950 (GRCm39) |
L196* |
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
Celsr2 |
A |
G |
3: 108,321,732 (GRCm39) |
V360A |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,909,528 (GRCm39) |
G432E |
probably damaging |
Het |
Dclre1b |
A |
G |
3: 103,715,412 (GRCm39) |
Y29H |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,444,225 (GRCm39) |
D110G |
probably damaging |
Het |
Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
Klb |
G |
A |
5: 65,529,485 (GRCm39) |
G338S |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
Prps2 |
G |
A |
X: 166,165,504 (GRCm39) |
|
probably null |
Het |
Prss23 |
C |
A |
7: 89,159,107 (GRCm39) |
V321L |
possibly damaging |
Het |
Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
Slc25a17 |
C |
T |
15: 81,244,901 (GRCm39) |
V11I |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
Washc1 |
T |
C |
17: 66,424,028 (GRCm39) |
S247P |
probably damaging |
Het |
Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
|
Other mutations in Zdhhc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Zdhhc14
|
APN |
17 |
5,802,959 (GRCm39) |
splice site |
probably benign |
|
IGL00909:Zdhhc14
|
APN |
17 |
5,803,067 (GRCm39) |
missense |
probably benign |
|
IGL00964:Zdhhc14
|
APN |
17 |
5,762,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01398:Zdhhc14
|
APN |
17 |
5,762,738 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01483:Zdhhc14
|
APN |
17 |
5,762,733 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02185:Zdhhc14
|
APN |
17 |
5,803,157 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02801:Zdhhc14
|
APN |
17 |
5,777,094 (GRCm39) |
splice site |
probably null |
|
R0189:Zdhhc14
|
UTSW |
17 |
5,775,539 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0304:Zdhhc14
|
UTSW |
17 |
5,775,611 (GRCm39) |
splice site |
probably benign |
|
R0648:Zdhhc14
|
UTSW |
17 |
5,543,877 (GRCm39) |
missense |
probably benign |
0.01 |
R1017:Zdhhc14
|
UTSW |
17 |
5,543,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R1595:Zdhhc14
|
UTSW |
17 |
5,543,831 (GRCm39) |
missense |
probably benign |
0.00 |
R2416:Zdhhc14
|
UTSW |
17 |
5,803,283 (GRCm39) |
missense |
probably benign |
|
R3421:Zdhhc14
|
UTSW |
17 |
5,803,366 (GRCm39) |
makesense |
probably null |
|
R4063:Zdhhc14
|
UTSW |
17 |
5,802,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Zdhhc14
|
UTSW |
17 |
5,777,131 (GRCm39) |
missense |
probably benign |
0.01 |
R5359:Zdhhc14
|
UTSW |
17 |
5,543,821 (GRCm39) |
missense |
probably benign |
|
R6236:Zdhhc14
|
UTSW |
17 |
5,543,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7029:Zdhhc14
|
UTSW |
17 |
5,698,186 (GRCm39) |
missense |
probably damaging |
0.97 |
R7350:Zdhhc14
|
UTSW |
17 |
5,777,151 (GRCm39) |
missense |
probably benign |
0.44 |
R7873:Zdhhc14
|
UTSW |
17 |
5,762,729 (GRCm39) |
missense |
probably benign |
0.37 |
R8247:Zdhhc14
|
UTSW |
17 |
5,736,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R8492:Zdhhc14
|
UTSW |
17 |
5,762,689 (GRCm39) |
missense |
probably damaging |
0.98 |
R8865:Zdhhc14
|
UTSW |
17 |
5,775,570 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8969:Zdhhc14
|
UTSW |
17 |
5,775,555 (GRCm39) |
missense |
probably benign |
0.12 |
R9133:Zdhhc14
|
UTSW |
17 |
5,803,283 (GRCm39) |
missense |
probably benign |
|
R9291:Zdhhc14
|
UTSW |
17 |
5,698,237 (GRCm39) |
missense |
probably benign |
0.02 |
R9433:Zdhhc14
|
UTSW |
17 |
5,781,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGACATTATGCCCCTGAAGG -3'
(R):5'- TCCTCGTGTCTGTCCCAAAAG -3'
Sequencing Primer
(F):5'- CATTATGCCCCTGAAGGATGAGC -3'
(R):5'- GTGTCTGTCCCAAAAGCAGCC -3'
|
Posted On |
2015-02-18 |