Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Chdh'

238525

Institutional Source

Beutler Lab

Gene Symbol

Chdh

Ensembl Gene

ENSMUSG00000015970

Gene Name

choline dehydrogenase

Synonyms

D630034H06Rik

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29730957-29762423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29753489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 133 (S133T)

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: S133T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: S133T

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

possibly damaging
Transcript: ENSMUST00000118917
AA Change: S133T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: S133T

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

0.5449

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	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
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
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'- AGGACCTAAGGACTTGTTGATGG -3'
(R):5'- TTCAGTGAAGGGGTAGCCAG -3'

Sequencing Primer
(F):5'- ACTTGTTGATGGGGAGCAAGC -3'
(R):5'- TCTTGCCCCGAGACACATG -3'

Posted On

2014-10-02