Incidental Mutation 'R4412:Chdh'
| ID |
327983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chdh
|
| Ensembl Gene |
ENSMUSG00000015970 |
| Gene Name |
choline dehydrogenase |
| Synonyms |
D630034H06Rik |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29753672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 194
(G194C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067620]
[ENSMUST00000118917]
|
| AlphaFold |
Q8BJ64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067620
AA Change: G194C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: G194C
| 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 damaging
Transcript: ENSMUST00000118917
AA Change: G194C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: G194C
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,449,302 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,485,939 (GRCm39) |
I2T |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,266,962 (GRCm39) |
K132E |
possibly damaging |
Het |
| Cyp2b9 |
T |
G |
7: 25,897,868 (GRCm39) |
L224R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,981,828 (GRCm39) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,509 (GRCm39) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,642,074 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,909,372 (GRCm39) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,636 (GRCm39) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,747,047 (GRCm39) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,491,915 (GRCm39) |
H593R |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,407,444 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,738,645 (GRCm39) |
M139T |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,142,368 (GRCm39) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,310,856 (GRCm39) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,010,156 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,207,807 (GRCm39) |
N33S |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,908,615 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm39) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or4c1 |
A |
G |
2: 89,133,684 (GRCm39) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 62,140,406 (GRCm39) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,547,194 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,857,294 (GRCm39) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm39) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,077,655 (GRCm39) |
N172K |
possibly damaging |
Het |
| Sin3b |
C |
T |
8: 73,466,407 (GRCm39) |
A291V |
probably benign |
Het |
| Slc12a6 |
A |
T |
2: 112,166,233 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,958,669 (GRCm39) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,152,834 (GRCm39) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,364,073 (GRCm39) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,065,199 (GRCm39) |
R236H |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATGGTCTACATCCGAG -3'
(R):5'- ACTGACCATGATGGAGTCAGG -3'
Sequencing Primer
(F):5'- ATGGTCTACATCCGAGGACACG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation