Incidental Mutation 'IGL01515:Chdh'
| ID |
89357 |
| 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 # |
IGL01515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29758843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 596
(R596H)
|
| 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: R596H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: R596H
| 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: R596H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: R596H
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,047,289 (GRCm39) |
V588E |
probably damaging |
Het |
| Ar |
C |
T |
X: 97,295,453 (GRCm39) |
|
probably benign |
Het |
| B4galt7 |
C |
A |
13: 55,757,035 (GRCm39) |
Q243K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,051 (GRCm39) |
T284S |
probably benign |
Het |
| Cyp2r1 |
T |
C |
7: 114,151,947 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,228 (GRCm39) |
L74* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,867,459 (GRCm39) |
I304L |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,710,577 (GRCm39) |
E750K |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,642 (GRCm39) |
E554D |
probably benign |
Het |
| Fnd3c2 |
T |
C |
X: 105,282,093 (GRCm39) |
K721E |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,075,883 (GRCm39) |
L243P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,601,706 (GRCm39) |
E1032G |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,200 (GRCm39) |
V1054E |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,679,340 (GRCm39) |
S331G |
possibly damaging |
Het |
| Ints11 |
A |
T |
4: 155,959,689 (GRCm39) |
I99F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,133,206 (GRCm39) |
|
probably null |
Het |
| Ky |
A |
G |
9: 102,419,304 (GRCm39) |
Y437C |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,020 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,414,106 (GRCm39) |
K761Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,172,655 (GRCm39) |
D1194G |
probably benign |
Het |
| Naga |
C |
A |
15: 82,214,360 (GRCm39) |
V384F |
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,611 (GRCm39) |
S72T |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,352 (GRCm39) |
T197I |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,183 (GRCm39) |
Y60C |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,703,979 (GRCm39) |
S1337L |
probably benign |
Het |
| Slitrk2 |
C |
T |
X: 65,699,248 (GRCm39) |
P580S |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,936 (GRCm39) |
D67G |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,742,739 (GRCm39) |
|
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation