Incidental Mutation 'R6790:Zdhhc20'
ID |
532564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc20
|
Ensembl Gene |
ENSMUSG00000021969 |
Gene Name |
zinc finger, DHHC domain containing 20 |
Synonyms |
5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik |
MMRRC Submission |
044903-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R6790 (G1)
|
Quality Score |
179.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
58070160-58127733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58127600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 13
(V13A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089473]
[ENSMUST00000226057]
|
AlphaFold |
Q5Y5T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089473
AA Change: V13A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000086900 Gene: ENSMUSG00000021969 AA Change: V13A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
121 |
250 |
2.2e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226057
AA Change: V13A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0929 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
|
Other mutations in Zdhhc20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Zdhhc20
|
APN |
14 |
58,111,381 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00983:Zdhhc20
|
APN |
14 |
58,076,613 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01107:Zdhhc20
|
APN |
14 |
58,103,046 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01350:Zdhhc20
|
APN |
14 |
58,111,444 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02572:Zdhhc20
|
APN |
14 |
58,127,564 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02748:Zdhhc20
|
APN |
14 |
58,096,010 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03406:Zdhhc20
|
APN |
14 |
58,076,556 (GRCm39) |
missense |
probably benign |
|
R0314:Zdhhc20
|
UTSW |
14 |
58,094,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Zdhhc20
|
UTSW |
14 |
58,095,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R1144:Zdhhc20
|
UTSW |
14 |
58,094,135 (GRCm39) |
missense |
probably benign |
0.07 |
R1703:Zdhhc20
|
UTSW |
14 |
58,076,545 (GRCm39) |
critical splice donor site |
probably null |
|
R1815:Zdhhc20
|
UTSW |
14 |
58,127,600 (GRCm39) |
missense |
probably benign |
0.10 |
R1816:Zdhhc20
|
UTSW |
14 |
58,127,600 (GRCm39) |
missense |
probably benign |
0.10 |
R6219:Zdhhc20
|
UTSW |
14 |
58,078,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R6488:Zdhhc20
|
UTSW |
14 |
58,078,289 (GRCm39) |
missense |
probably benign |
0.00 |
R6650:Zdhhc20
|
UTSW |
14 |
58,096,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Zdhhc20
|
UTSW |
14 |
58,111,348 (GRCm39) |
critical splice donor site |
probably null |
|
R7365:Zdhhc20
|
UTSW |
14 |
58,111,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8126:Zdhhc20
|
UTSW |
14 |
58,084,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8832:Zdhhc20
|
UTSW |
14 |
58,103,089 (GRCm39) |
missense |
probably benign |
0.05 |
R8832:Zdhhc20
|
UTSW |
14 |
58,080,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8885:Zdhhc20
|
UTSW |
14 |
58,127,671 (GRCm39) |
start gained |
probably benign |
|
Z1176:Zdhhc20
|
UTSW |
14 |
58,076,562 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAACCCTCGGACGTGGAAC -3'
(R):5'- GATGGCCTCCTACACATCCTTAG -3'
Sequencing Primer
(F):5'- GTGGAACCCACGGGCTG -3'
(R):5'- AGCGTCGCCCTTCACAG -3'
|
Posted On |
2018-08-29 |