Incidental Mutation 'IGL01953:Chdh'
ID181351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chdh
Ensembl Gene ENSMUSG00000015970
Gene Namecholine dehydrogenase
SynonymsD630034H06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01953
Quality Score
Status
Chromosome14
Chromosomal Location30009023-30040527 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30035347 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
Ref Sequence ENSEMBL: ENSMUSP00000112916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000112250] [ENSMUST00000118917]
Predicted Effect probably benign
Transcript: ENSMUST00000067620
AA Change: V409A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: V409A

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: ENSMUST00000112250
SMART Domains Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000118917
AA Change: V409A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: V409A

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: ENSMUST00000223573
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,224,980 M261T probably benign Het
Anks3 G A 16: 4,960,544 A8V probably damaging Het
Atp6v0a4 A G 6: 38,054,617 S650P probably damaging Het
B3glct C A 5: 149,745,535 D311E probably benign Het
Cc2d1a G A 8: 84,143,978 P119S probably benign Het
Cipc T A 12: 86,952,764 V4E possibly damaging Het
Dock2 G T 11: 34,732,356 T70K probably benign Het
Dpf1 T C 7: 29,314,307 V269A probably damaging Het
Drc7 A T 8: 95,059,125 Y203F probably damaging Het
Dsg3 C T 18: 20,525,304 T324I probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Iqcd A T 5: 120,600,489 N124I probably benign Het
Kdm7a T C 6: 39,146,902 N776S probably benign Het
Lama5 C T 2: 180,190,704 R1684H probably damaging Het
Lrp12 A T 15: 39,878,101 V406D probably damaging Het
Lrrc74a T A 12: 86,741,720 L158Q probably damaging Het
Mef2d C T 3: 88,156,506 T80I probably damaging Het
Megf11 T C 9: 64,690,088 C681R probably damaging Het
Mex3c A G 18: 73,590,033 D399G probably damaging Het
Muc20 T C 16: 32,793,703 T435A probably benign Het
Myo5b T C 18: 74,569,767 Y10H possibly damaging Het
Olfr103 T C 17: 37,336,875 D119G probably damaging Het
Olfr1286 A G 2: 111,420,312 L213P probably benign Het
Otoa T A 7: 121,160,325 probably null Het
P4ha2 T C 11: 54,114,170 F124S probably benign Het
Phkg2 C T 7: 127,582,340 P232S probably damaging Het
Piezo1 T A 8: 122,491,184 Q800L probably damaging Het
Pign C A 1: 105,589,039 probably benign Het
Pik3r5 A G 11: 68,494,171 D634G probably benign Het
Ptpn9 A G 9: 57,056,788 T402A possibly damaging Het
Relb A C 7: 19,615,557 probably null Het
Scgb1b30 A G 7: 34,099,877 Q78R probably damaging Het
Sema6a C T 18: 47,290,120 W273* probably null Het
Sestd1 A G 2: 77,212,469 V247A possibly damaging Het
Specc1 T A 11: 62,118,296 S293T probably benign Het
Sptbn2 A G 19: 4,749,693 D2145G probably benign Het
Trim43b T A 9: 89,085,443 D380V possibly damaging Het
Vmn1r236 A G 17: 21,287,211 Y197C possibly damaging Het
Vmn1r79 A G 7: 12,176,455 Y88C probably damaging Het
Vmn2r61 G A 7: 42,300,189 V678M probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy3 A T 5: 101,895,028 Y1937* probably null Het
Other mutations in Chdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Chdh APN 14 30031332 missense probably benign 0.15
IGL01309:Chdh APN 14 30035804 unclassified probably benign
IGL01515:Chdh APN 14 30036886 missense probably damaging 1.00
IGL01828:Chdh APN 14 30036608 missense probably damaging 0.96
IGL01989:Chdh APN 14 30031731 missense possibly damaging 0.71
IGL02325:Chdh APN 14 30032825 missense probably benign 0.01
IGL02620:Chdh APN 14 30031139 missense probably damaging 0.99
IGL03180:Chdh APN 14 30034602 splice site probably null
R0024:Chdh UTSW 14 30031596 missense possibly damaging 0.81
R0455:Chdh UTSW 14 30034646 missense probably damaging 1.00
R0486:Chdh UTSW 14 30032858 missense possibly damaging 0.83
R0668:Chdh UTSW 14 30035880 missense probably damaging 1.00
R0684:Chdh UTSW 14 30031613 missense probably damaging 1.00
R0971:Chdh UTSW 14 30033663 missense probably damaging 1.00
R1291:Chdh UTSW 14 30031562 nonsense probably null
R1381:Chdh UTSW 14 30036834 missense probably damaging 1.00
R1386:Chdh UTSW 14 30031434 missense probably damaging 1.00
R1412:Chdh UTSW 14 30034723 missense probably benign 0.01
R1912:Chdh UTSW 14 30032788 missense probably benign 0.00
R2198:Chdh UTSW 14 30031532 missense possibly damaging 0.91
R4077:Chdh UTSW 14 30035340 missense probably damaging 0.99
R4412:Chdh UTSW 14 30031715 missense probably damaging 1.00
R4713:Chdh UTSW 14 30036841 missense probably benign 0.28
R4865:Chdh UTSW 14 30033724 missense probably benign 0.00
R4940:Chdh UTSW 14 30032852 missense possibly damaging 0.82
R5207:Chdh UTSW 14 30031361 missense probably damaging 1.00
R5582:Chdh UTSW 14 30036859 missense probably damaging 1.00
R5710:Chdh UTSW 14 30034627 missense probably damaging 1.00
R5954:Chdh UTSW 14 30031181 missense possibly damaging 0.87
R6245:Chdh UTSW 14 30035305 missense probably damaging 0.99
R7032:Chdh UTSW 14 30036852 missense possibly damaging 0.89
R7868:Chdh UTSW 14 30031331 missense probably benign
Posted On2014-05-07