Incidental Mutation 'IGL01953:Chdh'
| ID |
181351 |
| 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 # |
IGL01953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29757304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 409
(V409A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067620]
[ENSMUST00000112250]
[ENSMUST00000118917]
|
| AlphaFold |
Q8BJ64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067620
AA Change: V409A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: V409A
| 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: ENSMUST00000112250
|
| SMART Domains |
Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
147 |
439 |
5.6e-72 |
PFAM |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
544 |
784 |
2e-56 |
PFAM |
|
low complexity region
|
788 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
862 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
907 |
1185 |
2.6e-63 |
PFAM |
|
Pfam:Ion_trans
|
1226 |
1482 |
1.7e-70 |
PFAM |
|
Pfam:PKD_channel
|
1306 |
1477 |
1.2e-9 |
PFAM |
|
Pfam:GPHH
|
1484 |
1553 |
2.3e-38 |
PFAM |
|
Ca_chan_IQ
|
1605 |
1639 |
5.05e-16 |
SMART |
|
Pfam:CAC1F_C
|
1649 |
2165 |
1.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118917
AA Change: V409A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: V409A
| 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: ENSMUST00000223573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225717
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
G |
A |
16: 4,778,408 (GRCm39) |
A8V |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,031,552 (GRCm39) |
S650P |
probably damaging |
Het |
| B3glct |
C |
A |
5: 149,669,000 (GRCm39) |
D311E |
probably benign |
Het |
| Cc2d1a |
G |
A |
8: 84,870,607 (GRCm39) |
P119S |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,826,709 (GRCm39) |
M261T |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,538 (GRCm39) |
V4E |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,623,183 (GRCm39) |
T70K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,013,732 (GRCm39) |
V269A |
probably damaging |
Het |
| Drc7 |
A |
T |
8: 95,785,753 (GRCm39) |
Y203F |
probably damaging |
Het |
| Dsg3 |
C |
T |
18: 20,658,361 (GRCm39) |
T324I |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Iqcd |
A |
T |
5: 120,738,554 (GRCm39) |
N124I |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,123,836 (GRCm39) |
N776S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,832,497 (GRCm39) |
R1684H |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,497 (GRCm39) |
V406D |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,788,494 (GRCm39) |
L158Q |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,813 (GRCm39) |
T80I |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,597,370 (GRCm39) |
C681R |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,104 (GRCm39) |
D399G |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,614,073 (GRCm39) |
T435A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,702,838 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,766 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4k40 |
A |
G |
2: 111,250,657 (GRCm39) |
L213P |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,759,548 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,004,996 (GRCm39) |
F124S |
probably benign |
Het |
| Phkg2 |
C |
T |
7: 127,181,512 (GRCm39) |
P232S |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,217,923 (GRCm39) |
Q800L |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,516,764 (GRCm39) |
|
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,384,997 (GRCm39) |
D634G |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,964,072 (GRCm39) |
T402A |
possibly damaging |
Het |
| Relb |
A |
C |
7: 19,349,482 (GRCm39) |
|
probably null |
Het |
| Scgb1b30 |
A |
G |
7: 33,799,302 (GRCm39) |
Q78R |
probably damaging |
Het |
| Sema6a |
C |
T |
18: 47,423,187 (GRCm39) |
W273* |
probably null |
Het |
| Sestd1 |
A |
G |
2: 77,042,813 (GRCm39) |
V247A |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,122 (GRCm39) |
S293T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,799,721 (GRCm39) |
D2145G |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,967,496 (GRCm39) |
D380V |
possibly damaging |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,473 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,382 (GRCm39) |
Y88C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r61 |
G |
A |
7: 41,949,613 (GRCm39) |
V678M |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,042,894 (GRCm39) |
Y1937* |
probably null |
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 |
|
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 |
2014-05-07 |
Incidental Mutation