Incidental Mutation 'R5954:Chdh'
ID 471068
Institutional Source Beutler Lab
Gene Symbol Chdh
Ensembl Gene ENSMUSG00000015970
Gene Name choline dehydrogenase
Synonyms D630034H06Rik
MMRRC Submission 044143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5954 (G1)
Quality Score 163
Status Validated
Chromosome 14
Chromosomal Location 29730957-29762423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29753138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 16 (R16C)
Ref Sequence ENSEMBL: ENSMUSP00000112916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000118917]
AlphaFold Q8BJ64
Predicted Effect possibly damaging
Transcript: ENSMUST00000067620
AA Change: R16C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: R16C

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 possibly damaging
Transcript: ENSMUST00000118917
AA Change: R16C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: R16C

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (62/62)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,390 (GRCm39) I944T probably benign Het
Ank2 T C 3: 126,791,510 (GRCm39) T823A probably benign Het
Ankrd42 C G 7: 92,273,175 (GRCm39) probably null Het
Anks4b T A 7: 119,781,396 (GRCm39) N142K possibly damaging Het
Armc5 A G 7: 127,841,444 (GRCm39) E484G probably benign Het
B4galnt3 A G 6: 120,202,149 (GRCm39) F118L possibly damaging Het
Bbs12 C T 3: 37,374,151 (GRCm39) L200F possibly damaging Het
Cacna1h A G 17: 25,602,175 (GRCm39) F1555S probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Chd6 A C 2: 160,807,747 (GRCm39) H1822Q probably benign Het
Cnga1 T C 5: 72,762,221 (GRCm39) D431G probably damaging Het
Dock8 G A 19: 25,148,983 (GRCm39) R1487Q probably damaging Het
Farp1 T A 14: 121,460,079 (GRCm39) V116D probably damaging Het
Fbxo24 T A 5: 137,617,943 (GRCm39) T274S probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gatad2b T C 3: 90,258,748 (GRCm39) L257P probably damaging Het
Gm20402 C T 3: 52,176,311 (GRCm39) P30L probably damaging Het
Gm7932 C T 6: 48,839,793 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,767 (GRCm39) D590E unknown Het
Herc1 T G 9: 66,358,774 (GRCm39) probably benign Het
Hsd3b2 T A 3: 98,618,875 (GRCm39) I357F probably benign Het
Ipo5 A G 14: 121,157,396 (GRCm39) Y78C probably damaging Het
Itga8 C A 2: 12,137,297 (GRCm39) A23S probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat2a A G 11: 100,599,724 (GRCm39) V451A possibly damaging Het
Knstrn A G 2: 118,661,436 (GRCm39) probably benign Het
Med23 A G 10: 24,746,381 (GRCm39) probably benign Het
Mefv A G 16: 3,533,579 (GRCm39) Y231H probably benign Het
Or4d10 A T 19: 12,051,447 (GRCm39) I183N possibly damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Or5p69 T A 7: 107,966,808 (GRCm39) I37N probably damaging Het
Or8g21 A G 9: 38,906,711 (GRCm39) S7P probably damaging Het
Pak5 G T 2: 135,958,383 (GRCm39) T235K probably benign Het
Plppr3 G T 10: 79,701,960 (GRCm39) P294Q probably benign Het
Prepl A G 17: 85,372,077 (GRCm39) F725L probably benign Het
Ptchd3 A T 11: 121,727,413 (GRCm39) probably benign Het
Rprd2 T C 3: 95,672,175 (GRCm39) E1076G probably damaging Het
Sarm1 C A 11: 78,381,428 (GRCm39) E352* probably null Het
Sccpdh T A 1: 179,508,153 (GRCm39) H14Q probably benign Het
Senp7 A G 16: 55,990,234 (GRCm39) I661V probably benign Het
Septin3 T C 15: 82,174,628 (GRCm39) F140L probably damaging Het
Spag6 G T 2: 18,715,417 (GRCm39) Q65H probably damaging Het
Tnni3 C T 7: 4,522,539 (GRCm39) R137H probably damaging Het
Trank1 A G 9: 111,194,201 (GRCm39) S742G probably benign Het
Ucn3 T C 13: 3,991,413 (GRCm39) I80V probably benign Het
Ulk2 A T 11: 61,694,622 (GRCm39) probably benign Het
Uncx C T 5: 139,533,384 (GRCm39) S483L probably benign Het
Vps39 A G 2: 120,155,143 (GRCm39) V550A probably damaging Het
Zfp697 C A 3: 98,335,909 (GRCm39) T558K probably damaging Het
Zfp790 G T 7: 29,528,929 (GRCm39) G538V probably damaging Het
Other mutations in Chdh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TATCATGCGCCATGGCCTTG -3'
(R):5'- CCATCAACAAGTCCTTAGGTCCTG -3'

Sequencing Primer
(F):5'- GGCCTTGCCCAAGCTAG -3'
(R):5'- AAGTCCTTAGGTCCTGCCTCTAG -3'
Posted On 2017-03-31