Incidental Mutation 'R5365:Zdhhc12'
ID |
423065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc12
|
Ensembl Gene |
ENSMUSG00000015335 |
Gene Name |
zinc finger, DHHC domain containing 12 |
Synonyms |
1190004A01Rik |
MMRRC Submission |
042943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R5365 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
29980956-29983647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29983521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044751]
[ENSMUST00000045246]
[ENSMUST00000081838]
[ENSMUST00000102865]
[ENSMUST00000113677]
|
AlphaFold |
Q8VC90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044751
|
SMART Domains |
Protein: ENSMUSP00000046441 Gene: ENSMUSG00000039686
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
405 |
774 |
3e-15 |
SMART |
Blast:ARM
|
440 |
480 |
2e-18 |
BLAST |
Blast:ARM
|
524 |
569 |
4e-24 |
BLAST |
Blast:ARM
|
571 |
613 |
6e-22 |
BLAST |
Blast:ARM
|
617 |
656 |
7e-8 |
BLAST |
Blast:ARM
|
686 |
724 |
6e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045246
|
SMART Domains |
Protein: ENSMUSP00000041025 Gene: ENSMUSG00000026785
Domain | Start | End | E-Value | Type |
Hr1
|
15 |
78 |
3.45e-17 |
SMART |
Hr1
|
98 |
166 |
6.19e-19 |
SMART |
Hr1
|
171 |
239 |
3.32e-19 |
SMART |
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
S_TKc
|
548 |
807 |
2.52e-93 |
SMART |
S_TK_X
|
808 |
872 |
9.58e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081838
AA Change: V27A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080521 Gene: ENSMUSG00000015335 AA Change: V27A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
106 |
232 |
1.9e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102865
AA Change: V27A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099929 Gene: ENSMUSG00000015335 AA Change: V27A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
58 |
218 |
1.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113677
|
SMART Domains |
Protein: ENSMUSP00000109307 Gene: ENSMUSG00000039686
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
392 |
761 |
3e-15 |
SMART |
Blast:ARM
|
427 |
467 |
2e-18 |
BLAST |
Blast:ARM
|
511 |
556 |
4e-24 |
BLAST |
Blast:ARM
|
558 |
600 |
2e-21 |
BLAST |
Blast:ARM
|
604 |
643 |
7e-8 |
BLAST |
Blast:ARM
|
673 |
711 |
6e-18 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137240
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148650
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
|
Other mutations in Zdhhc12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02325:Zdhhc12
|
APN |
2 |
29,981,448 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02635:Zdhhc12
|
APN |
2 |
29,983,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Zdhhc12
|
UTSW |
2 |
29,982,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Zdhhc12
|
UTSW |
2 |
29,982,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R2106:Zdhhc12
|
UTSW |
2 |
29,981,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Zdhhc12
|
UTSW |
2 |
29,981,496 (GRCm39) |
missense |
probably benign |
|
R4974:Zdhhc12
|
UTSW |
2 |
29,981,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R5561:Zdhhc12
|
UTSW |
2 |
29,982,496 (GRCm39) |
missense |
probably null |
1.00 |
R7837:Zdhhc12
|
UTSW |
2 |
29,981,709 (GRCm39) |
missense |
probably damaging |
0.96 |
R8544:Zdhhc12
|
UTSW |
2 |
29,983,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAACTTGGGAATCAGGC -3'
(R):5'- CAATAGACAGCCTCCCTGAG -3'
Sequencing Primer
(F):5'- CGGAGAGAGGATGATCCCC -3'
(R):5'- TGCCCCGCCTCTAATGCAG -3'
|
Posted On |
2016-08-04 |