Incidental Mutation 'IGL01828:Chdh'
ID |
154708 |
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 # |
IGL01828
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29758565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 503
(F503L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067620]
[ENSMUST00000112249]
[ENSMUST00000112250]
[ENSMUST00000118917]
[ENSMUST00000224395]
[ENSMUST00000224785]
|
AlphaFold |
Q8BJ64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067620
AA Change: F503L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000065542 Gene: ENSMUSG00000015970 AA Change: F503L
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: ENSMUST00000112249
|
SMART Domains |
Protein: ENSMUSP00000107868 Gene: ENSMUSG00000015968
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
163 |
405 |
4.8e-59 |
PFAM |
PDB:4DEY|B
|
406 |
502 |
3e-38 |
PDB |
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
557 |
751 |
5.5e-46 |
PFAM |
low complexity region
|
766 |
781 |
N/A |
INTRINSIC |
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
921 |
1151 |
7.2e-51 |
PFAM |
Pfam:Ion_trans
|
1239 |
1448 |
3.6e-67 |
PFAM |
Pfam:PKD_channel
|
1285 |
1455 |
1.9e-9 |
PFAM |
Blast:EFh
|
1469 |
1497 |
2e-9 |
BLAST |
Ca_chan_IQ
|
1583 |
1617 |
5.05e-16 |
SMART |
low complexity region
|
1649 |
1661 |
N/A |
INTRINSIC |
low complexity region
|
1722 |
1728 |
N/A |
INTRINSIC |
low complexity region
|
1830 |
1840 |
N/A |
INTRINSIC |
low complexity region
|
1885 |
1905 |
N/A |
INTRINSIC |
low complexity region
|
1921 |
1936 |
N/A |
INTRINSIC |
low complexity region
|
2122 |
2133 |
N/A |
INTRINSIC |
|
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 damaging
Transcript: ENSMUST00000118917
AA Change: F503L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112916 Gene: ENSMUSG00000015970 AA Change: F503L
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 |
probably benign
Transcript: ENSMUST00000224395
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224785
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,178,521 (GRCm39) |
I1151V |
probably benign |
Het |
Abcc4 |
C |
T |
14: 118,790,691 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,658,615 (GRCm39) |
|
probably benign |
Het |
Car4 |
C |
A |
11: 84,855,571 (GRCm39) |
Q198K |
probably benign |
Het |
Ces1a |
T |
C |
8: 93,751,829 (GRCm39) |
H435R |
probably damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dse |
T |
A |
10: 34,028,772 (GRCm39) |
T773S |
probably damaging |
Het |
Fbxw11 |
T |
A |
11: 32,670,505 (GRCm39) |
L123H |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,346,820 (GRCm39) |
D550G |
probably damaging |
Het |
Gm45844 |
T |
C |
7: 7,234,322 (GRCm39) |
|
probably null |
Het |
Krcc1 |
T |
A |
6: 71,261,351 (GRCm39) |
Y128N |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,194,652 (GRCm39) |
M1621T |
possibly damaging |
Het |
Notch2 |
T |
A |
3: 97,979,929 (GRCm39) |
C148S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,316,972 (GRCm39) |
H616Q |
probably damaging |
Het |
Plec |
T |
C |
15: 76,067,955 (GRCm39) |
E1218G |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,356,896 (GRCm39) |
E749G |
probably benign |
Het |
Slco1a6 |
C |
T |
6: 142,042,137 (GRCm39) |
V480M |
probably damaging |
Het |
Vmn1r88 |
C |
T |
7: 12,911,662 (GRCm39) |
T6I |
probably damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,372,443 (GRCm39) |
F16L |
possibly damaging |
Het |
Ywhab |
G |
A |
2: 163,853,694 (GRCm39) |
R57H |
possibly 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 |
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 |
2014-02-04 |