Incidental Mutation 'R0684:Chdh'
| ID |
218635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chdh
|
| Ensembl Gene |
ENSMUSG00000015970 |
| Gene Name |
choline dehydrogenase |
| Synonyms |
D630034H06Rik |
| MMRRC Submission |
038869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0684 (G1)
|
| Quality Score |
25 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
29730957-29762423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29753570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 160
(W160R)
|
| 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: W160R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: W160R
| 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: W160R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: W160R
| 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
|
| Meta Mutation Damage Score |
0.9687 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
| Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
| Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
| Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
| Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
| Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
| Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
| Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
| Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
| Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
| Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
| Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
| Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTGGAAGATCCACATGCCG -3'
(R):5'- ATGTCTTCAGTGAAGGGGTAGCCAG -3'
Sequencing Primer
(F):5'- TGTCCAACCTGTGTGATGAC -3'
(R):5'- GTAGCCAGCCTGACGTG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation