Incidental Mutation 'IGL01019:Chdh'
ID |
53976 |
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 # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29753289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 66
(N66I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067620]
[ENSMUST00000118917]
|
AlphaFold |
Q8BJ64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067620
AA Change: N66I
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000065542 Gene: ENSMUSG00000015970 AA Change: N66I
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 |
probably benign
Transcript: ENSMUST00000118917
AA Change: N66I
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000112916 Gene: ENSMUSG00000015970 AA Change: N66I
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 |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably damaging |
Het |
|
Other mutations in Chdh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL01989:Chdh
|
APN |
14 |
29,753,688 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
2013-06-28 |