Incidental Mutation 'IGL01989:Chdh'
| ID |
182837 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chdh
|
| Ensembl Gene |
ENSMUSG00000015970 |
| Gene Name |
choline dehydrogenase |
| Synonyms |
D630034H06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29753688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 199
(P199Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067620]
[ENSMUST00000118917]
|
| AlphaFold |
Q8BJ64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067620
AA Change: P199Q
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: P199Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GMC_oxred_N
|
43 |
341 |
2.4e-98 |
PFAM |
|
Pfam:Lycopene_cycl
|
45 |
110 |
8.4e-8 |
PFAM |
|
Pfam:GMC_oxred_C
|
431 |
569 |
2.5e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118917
AA Change: P199Q
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: P199Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GMC_oxred_N
|
43 |
341 |
2.4e-98 |
PFAM |
|
Pfam:Lycopene_cycl
|
44 |
109 |
1.9e-8 |
PFAM |
|
Pfam:GMC_oxred_C
|
431 |
569 |
5.9e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225370
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous male mutants show reduced fertility due to reduced sperm motility caused by abnormal mitochondrial function and structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,266 (GRCm39) |
V8D |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,565,943 (GRCm39) |
T299A |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,602,462 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
G |
A |
1: 173,165,578 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
G |
A |
9: 45,704,313 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,576,375 (GRCm39) |
N129K |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,694 (GRCm39) |
V3142A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,218,053 (GRCm39) |
N1172K |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,103 (GRCm39) |
E66D |
probably benign |
Het |
| F5 |
A |
G |
1: 164,003,876 (GRCm39) |
S224G |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,794 (GRCm39) |
T159A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,211 (GRCm39) |
D6648V |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,317,201 (GRCm39) |
E519V |
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,546 (GRCm39) |
L462P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,879,951 (GRCm39) |
L1286S |
probably damaging |
Het |
| Hnrnpll |
A |
G |
17: 80,346,169 (GRCm39) |
V364A |
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,992 (GRCm39) |
T282A |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,598,909 (GRCm39) |
|
probably benign |
Het |
| Insl5 |
C |
A |
4: 102,883,838 (GRCm39) |
V28L |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,113 (GRCm39) |
D398G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,413,998 (GRCm39) |
D1137N |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,823,872 (GRCm39) |
D64E |
probably benign |
Het |
| Mrpl3 |
A |
G |
9: 104,948,678 (GRCm39) |
T245A |
probably benign |
Het |
| Mrps18c |
C |
A |
5: 100,949,775 (GRCm39) |
P52Q |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,977,481 (GRCm39) |
D377V |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 87,575,115 (GRCm39) |
V727L |
probably damaging |
Het |
| Npffr2 |
A |
G |
5: 89,730,831 (GRCm39) |
T254A |
probably benign |
Het |
| Nsfl1c |
C |
A |
2: 151,342,649 (GRCm39) |
T73K |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,132 (GRCm39) |
V148I |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,306,396 (GRCm39) |
W1442* |
probably null |
Het |
| Serpina3n |
T |
A |
12: 104,379,750 (GRCm39) |
M381K |
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,648,814 (GRCm39) |
N147D |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,344,511 (GRCm39) |
E832G |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,702,076 (GRCm39) |
D207G |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,281,055 (GRCm39) |
M16K |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,719 (GRCm39) |
E53G |
probably damaging |
Het |
| Tmem86a |
A |
T |
7: 46,703,187 (GRCm39) |
I105F |
probably benign |
Het |
| Tph2 |
A |
G |
10: 114,981,921 (GRCm39) |
S304P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,883 (GRCm39) |
D17711G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,474 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,837,478 (GRCm39) |
I1729L |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,494 (GRCm39) |
Y351* |
probably null |
Het |
| Wfdc5 |
C |
T |
2: 164,020,651 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,233 (GRCm39) |
D239N |
probably benign |
Het |
| Zbtb8b |
T |
A |
4: 129,326,181 (GRCm39) |
E295V |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,407,691 (GRCm39) |
T52A |
probably damaging |
Het |
|
| Other mutations in Chdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Chdh
|
APN |
14 |
29,753,289 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01309:Chdh
|
APN |
14 |
29,757,761 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01515:Chdh
|
APN |
14 |
29,758,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Chdh
|
APN |
14 |
29,758,565 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01953:Chdh
|
APN |
14 |
29,757,304 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02325:Chdh
|
APN |
14 |
29,754,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02620:Chdh
|
APN |
14 |
29,753,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03180:Chdh
|
APN |
14 |
29,756,559 (GRCm39) |
splice site |
probably null |
|
|
R0024:Chdh
|
UTSW |
14 |
29,753,553 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0455:Chdh
|
UTSW |
14 |
29,756,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Chdh
|
UTSW |
14 |
29,754,815 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0668:Chdh
|
UTSW |
14 |
29,757,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Chdh
|
UTSW |
14 |
29,753,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0971:Chdh
|
UTSW |
14 |
29,755,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1291:Chdh
|
UTSW |
14 |
29,753,519 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Chdh
|
UTSW |
14 |
29,758,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Chdh
|
UTSW |
14 |
29,753,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Chdh
|
UTSW |
14 |
29,756,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1912:Chdh
|
UTSW |
14 |
29,754,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2198:Chdh
|
UTSW |
14 |
29,753,489 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4077:Chdh
|
UTSW |
14 |
29,757,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4412:Chdh
|
UTSW |
14 |
29,753,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4713:Chdh
|
UTSW |
14 |
29,758,798 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4865:Chdh
|
UTSW |
14 |
29,755,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:Chdh
|
UTSW |
14 |
29,754,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5207:Chdh
|
UTSW |
14 |
29,753,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Chdh
|
UTSW |
14 |
29,758,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:Chdh
|
UTSW |
14 |
29,756,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Chdh
|
UTSW |
14 |
29,753,138 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6245:Chdh
|
UTSW |
14 |
29,757,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7032:Chdh
|
UTSW |
14 |
29,758,809 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7868:Chdh
|
UTSW |
14 |
29,753,288 (GRCm39) |
missense |
probably benign |
|
|
R9083:Chdh
|
UTSW |
14 |
29,753,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Chdh
|
UTSW |
14 |
29,753,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Chdh
|
UTSW |
14 |
29,758,806 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2014-05-07 |
Incidental Mutation