Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Chdh'

690423

Institutional Source

Beutler Lab

Gene Symbol

Chdh

Ensembl Gene

ENSMUSG00000015970

Gene Name

choline dehydrogenase

Synonyms

D630034H06Rik

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29730957-29762423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29753703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 204 (F204S)

Ref Sequence

ENSEMBL: ENSMUSP00000065542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000118917]

AlphaFold

Q8BJ64

Predicted Effect

probably damaging
Transcript: ENSMUST00000067620
AA Change: F204S

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

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: F204S

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: F204S

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

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: F204S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,190,081 (GRCm39)		probably benign	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bnc1	C	T	7: 81,624,646 (GRCm39)	V194I	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kash5	G	A	7: 44,854,058 (GRCm39)	R24C	unknown	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 120,212,780 (GRCm39)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Uba7	C	A	9: 107,855,166 (GRCm39)	T343N	probably benign	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	probably 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
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
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'- AGGACTATAACCGCTGGCAC -3'
(R):5'- CTTACTGACCATGATGGAGTCAGG -3'

Sequencing Primer
(F):5'- TATAACCGCTGGCACCGTGAAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2021-12-30