Incidental Mutation 'R2416:Zdhhc14'
| ID |
249015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc14
|
| Ensembl Gene |
ENSMUSG00000034265 |
| Gene Name |
zinc finger, DHHC domain containing 14 |
| Synonyms |
New1cp, B530001K09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
5542832-5804086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5803283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 462
(R462H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089185]
|
| AlphaFold |
Q8BQQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089185
AA Change: R462H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086589
Gene: ENSMUSG00000034265
AA Change: R462H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably 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 |
|
R3420:Zdhhc14
|
UTSW |
17 |
5,803,366 (GRCm39) |
makesense |
probably null |
|
|
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'- CTGCATATGCCTGGGAAACC -3'
(R):5'- GGTCCACTCTGCAGATTCCAAAC -3'
Sequencing Primer
(F):5'- ACCCCATGTGCTAGCCTGAC -3'
(R):5'- ACAAAACGTCCTCTTGGCTATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation