Incidental Mutation 'IGL00903:Atpsckmt'
| ID |
29034 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atpsckmt
|
| Ensembl Gene |
ENSMUSG00000039065 |
| Gene Name |
ATP synthase C subunit lysine N-methyltransferase |
| Synonyms |
Fam173b, A930016P21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL00903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
31601998-31621373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31606261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 73
(V73A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022842]
[ENSMUST00000042702]
[ENSMUST00000161061]
[ENSMUST00000161266]
|
| AlphaFold |
Q9D1Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022842
|
| SMART Domains |
Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
44 |
537 |
7.7e-160 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042702
AA Change: V73A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
SCOP:d1dusa_
|
87 |
186 |
2e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161061
|
| SMART Domains |
Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161266
|
| SMART Domains |
Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
6 |
199 |
5.4e-61 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsk |
A |
G |
13: 76,246,487 (GRCm39) |
|
probably null |
Het |
| As3mt |
A |
G |
19: 46,700,673 (GRCm39) |
I159V |
probably benign |
Het |
| Ctsll3 |
C |
A |
13: 60,948,075 (GRCm39) |
V201L |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,211 (GRCm39) |
Y1275H |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,826 (GRCm39) |
R727H |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,674 (GRCm39) |
T91S |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,377 (GRCm39) |
E2364G |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,911,535 (GRCm39) |
|
probably benign |
Het |
| Hcls1 |
T |
A |
16: 36,776,383 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,902,754 (GRCm39) |
R2432H |
possibly damaging |
Het |
| Kif27 |
C |
A |
13: 58,492,486 (GRCm39) |
V218F |
possibly damaging |
Het |
| Klhl20 |
T |
C |
1: 160,918,076 (GRCm39) |
Y70C |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lcn12 |
G |
T |
2: 25,383,332 (GRCm39) |
N15K |
possibly damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,326 (GRCm39) |
M118V |
probably benign |
Het |
| Nacad |
G |
T |
11: 6,550,632 (GRCm39) |
T853K |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,574,860 (GRCm39) |
Q293L |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,874,800 (GRCm39) |
V381M |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,828 (GRCm39) |
F37S |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,980,175 (GRCm39) |
Y371C |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,254,516 (GRCm39) |
Y143C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,949,343 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
A |
15: 83,587,702 (GRCm39) |
H89L |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,938,315 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,682,774 (GRCm39) |
V810A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Zfas1 |
G |
T |
2: 166,907,406 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atpsckmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02715:Atpsckmt
|
APN |
15 |
31,606,149 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0414:Atpsckmt
|
UTSW |
15 |
31,617,148 (GRCm39) |
nonsense |
probably null |
|
|
R0462:Atpsckmt
|
UTSW |
15 |
31,617,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Atpsckmt
|
UTSW |
15 |
31,606,103 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0521:Atpsckmt
|
UTSW |
15 |
31,606,103 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1692:Atpsckmt
|
UTSW |
15 |
31,602,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2141:Atpsckmt
|
UTSW |
15 |
31,609,718 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4719:Atpsckmt
|
UTSW |
15 |
31,608,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Atpsckmt
|
UTSW |
15 |
31,617,065 (GRCm39) |
nonsense |
probably null |
|
|
R6113:Atpsckmt
|
UTSW |
15 |
31,608,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Atpsckmt
|
UTSW |
15 |
31,617,257 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7575:Atpsckmt
|
UTSW |
15 |
31,606,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Atpsckmt
|
UTSW |
15 |
31,606,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Atpsckmt
|
UTSW |
15 |
31,608,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Atpsckmt
|
UTSW |
15 |
31,617,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-04-17 |
Incidental Mutation