Incidental Mutation 'IGL01019:Chdh'
ID 53976
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) question?
Stock # IGL01019
Quality Score
Status
Chromosome 14
Chromosomal Location 29730957-29762423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29753289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 66 (N66I)
Ref Sequence ENSEMBL: ENSMUSP00000112916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000118917]
AlphaFold Q8BJ64
Predicted Effect probably benign
Transcript: ENSMUST00000067620
AA Change: N66I

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: N66I

DomainStartEndE-ValueType
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: ENSMUST00000118917
AA Change: N66I

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: N66I

DomainStartEndE-ValueType
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Chdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-28