Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Chdh'

402101

Institutional Source

Beutler Lab

Gene Symbol

Chdh

Ensembl Gene

ENSMUSG00000015970

Gene Name

choline dehydrogenase

Synonyms

D630034H06Rik

MMRRC Submission

042782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29730957-29762423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29753318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 76 (P76S)

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: P76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: P76S

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: P76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: P76S

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

0.2243

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,621,159 (GRCm39)		probably benign	Het
Alg6	C	T	4: 99,607,431 (GRCm39)	L15F	possibly damaging	Het
Allc	T	A	12: 28,605,325 (GRCm39)	M325L	probably benign	Het
Ap3b2	T	C	7: 81,126,517 (GRCm39)	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,009,714 (GRCm39)		probably benign	Het
Borcs6	A	T	11: 68,951,674 (GRCm39)	T351S	probably damaging	Het
Ccar1	T	C	10: 62,589,060 (GRCm39)	R808G	unknown	Het
Celsr3	A	T	9: 108,709,958 (GRCm39)	T1480S	probably benign	Het
Chmp7	T	C	14: 69,969,755 (GRCm39)	S62G	probably benign	Het
Cldn23	A	T	8: 36,293,182 (GRCm39)	V102E	probably damaging	Het
Csn2	G	A	5: 87,842,821 (GRCm39)	Q69*	probably null	Het
Ctrc	A	C	4: 141,567,695 (GRCm39)	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,266,951 (GRCm39)	L253R	probably damaging	Het
Ddr2	G	A	1: 169,812,530 (GRCm39)	T654M	probably damaging	Het
Derl2	G	T	11: 70,910,073 (GRCm39)		probably null	Het
Dnai7	A	T	6: 145,124,794 (GRCm39)	D510E	probably damaging	Het
Dock5	T	C	14: 68,013,733 (GRCm39)	S1330G	probably benign	Het
Emp3	T	C	7: 45,569,373 (GRCm39)	N56S	probably benign	Het
Fam161a	A	T	11: 22,970,583 (GRCm39)	K195*	probably null	Het
Ficd	T	A	5: 113,875,072 (GRCm39)	V47E	probably benign	Het
Garin3	T	C	11: 46,295,990 (GRCm39)	S121P	probably benign	Het
Gbp10	T	C	5: 105,372,575 (GRCm39)	T123A	probably benign	Het
Gdf7	C	T	12: 8,348,371 (GRCm39)	A309T	unknown	Het
Gm14486	G	T	2: 30,548,572 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,307,151 (GRCm39)	C990*	probably null	Het
Itgb4	T	C	11: 115,897,365 (GRCm39)	V1530A	probably damaging	Het
Itpka	G	A	2: 119,580,974 (GRCm39)	R374H	probably damaging	Het
Lacc1	T	A	14: 77,271,594 (GRCm39)		probably null	Het
Med23	A	T	10: 24,771,734 (GRCm39)	K225*	probably null	Het
Mrgpra3	T	A	7: 47,239,909 (GRCm39)	T6S	probably benign	Het
Mroh7	T	A	4: 106,578,583 (GRCm39)	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,359,763 (GRCm39)	R207G	probably damaging	Het
Mup20	A	C	4: 61,969,823 (GRCm39)		probably null	Het
Nagpa	A	G	16: 5,017,478 (GRCm39)		probably null	Het
Nek3	A	T	8: 22,622,243 (GRCm39)		probably benign	Het
Nes	G	A	3: 87,885,935 (GRCm39)	G1398E	probably damaging	Het
Nf1	G	T	11: 79,345,015 (GRCm39)	V1323L	probably damaging	Het
Or5b96	T	A	19: 12,867,801 (GRCm39)	I47F	probably benign	Het
Or6b2	A	T	1: 92,407,594 (GRCm39)	F250I	probably benign	Het
Or6c2	T	C	10: 129,362,773 (GRCm39)	F226L	probably benign	Het
Paqr8	G	T	1: 21,005,482 (GRCm39)	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,399,515 (GRCm39)	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,629,966 (GRCm39)	K683E	probably damaging	Het
Pjvk	A	C	2: 76,480,734 (GRCm39)		probably null	Het
Pkd1l3	A	T	8: 110,359,823 (GRCm39)	S893C	probably damaging	Het
Plxna2	A	G	1: 194,471,207 (GRCm39)	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,821,417 (GRCm39)	I247N	probably damaging	Het
Rac2	T	C	15: 78,449,654 (GRCm39)	N92S	probably damaging	Het
Senp2	A	T	16: 21,860,130 (GRCm39)	H501L	possibly damaging	Het
Snx29	A	T	16: 11,556,227 (GRCm39)	I753F	probably damaging	Het
Tcf20	T	A	15: 82,740,386 (GRCm39)	H355L	probably damaging	Het
Tex2	T	C	11: 106,437,666 (GRCm39)	D668G	unknown	Het
Tlr12	G	A	4: 128,510,502 (GRCm39)	Q583*	probably null	Het
Tmem119	T	C	5: 113,933,289 (GRCm39)	I171V	probably damaging	Het
Ube2m	C	T	7: 12,770,249 (GRCm39)		probably null	Het
Vmn2r25	A	T	6: 123,817,062 (GRCm39)	I173N	probably damaging	Het
Whrn	A	T	4: 63,350,951 (GRCm39)	V15E	probably damaging	Het
Zfp558	A	C	9: 18,368,296 (GRCm39)	V164G	possibly 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
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
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'- ATGTGGCAGGTCCTTAGAGG -3'
(R):5'- GACCATGGCATTGAGGGATG -3'

Sequencing Primer
(F):5'- CAGGTCCTTAGAGGCTGGAG -3'
(R):5'- CATTGAGGGATGAGGAGCCACC -3'

Posted On

2016-07-22