Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Chdh'

162370

Institutional Source

Beutler Lab

Gene Symbol

Chdh

Ensembl Gene

ENSMUSG00000015970

Gene Name

choline dehydrogenase

Synonyms

D630034H06Rik

MMRRC Submission

039448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29730957-29762423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29753391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 100 (L100Q)

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: L100Q

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

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: L100Q

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: L100Q

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

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: L100Q

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,135,081 (GRCm39)	I235V	probably benign	Het
Acsm4	T	C	7: 119,297,801 (GRCm39)	I146T	probably benign	Het
Adgrv1	T	C	13: 81,676,984 (GRCm39)	N1949S	probably benign	Het
Afdn	T	C	17: 14,066,798 (GRCm39)	V630A	probably damaging	Het
Amfr	A	G	8: 94,712,027 (GRCm39)	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,832,279 (GRCm39)	M45V	probably benign	Het
Ankrd12	T	C	17: 66,290,375 (GRCm39)	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,359,979 (GRCm39)	H193Q	probably damaging	Het
Aplnr	T	C	2: 84,967,805 (GRCm39)	W277R	possibly damaging	Het
Aspm	C	T	1: 139,406,710 (GRCm39)	H1866Y	possibly damaging	Het
Aspm	A	G	1: 139,385,361 (GRCm39)	E335G	probably benign	Het
Atp8b4	T	A	2: 126,220,664 (GRCm39)	D578V	probably benign	Het
Ccr1	T	A	9: 123,763,999 (GRCm39)	E177V	probably benign	Het
Cecr2	A	G	6: 120,739,092 (GRCm39)	E1245G	probably damaging	Het
Cep162	A	T	9: 87,103,255 (GRCm39)	C638S	probably benign	Het
Ces1b	A	T	8: 93,794,705 (GRCm39)	I298N	probably benign	Het
Cfap47	C	T	X: 78,553,507 (GRCm39)	V323I	possibly damaging	Het
Chrnd	T	C	1: 87,120,312 (GRCm39)	I156T	probably damaging	Het
Clpx	G	A	9: 65,234,170 (GRCm39)	R605Q	probably null	Het
Cnga1	T	A	5: 72,769,526 (GRCm39)	K135*	probably null	Het
Col6a4	A	T	9: 105,940,144 (GRCm39)	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,043,481 (GRCm39)	L53P	probably damaging	Het
Crhr1	T	C	11: 104,065,220 (GRCm39)	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,723,624 (GRCm39)		probably null	Het
Cyp21a1	T	A	17: 35,021,184 (GRCm39)	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddah1	A	T	3: 145,594,966 (GRCm39)	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,088,719 (GRCm39)	D105G	possibly damaging	Het
Dtl	A	G	1: 191,301,829 (GRCm39)	V76A	probably damaging	Het
Dzank1	A	G	2: 144,333,751 (GRCm39)	S361P	probably benign	Het
Ehd3	T	A	17: 74,127,538 (GRCm39)	I157N	probably damaging	Het
Elk4	T	C	1: 131,945,568 (GRCm39)	F149L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83a	A	G	15: 57,849,899 (GRCm39)	R148G	probably damaging	Het
Farp2	C	A	1: 93,547,873 (GRCm39)		probably null	Het
Fbxw25	T	A	9: 109,483,709 (GRCm39)	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,757,978 (GRCm39)	D479G	probably damaging	Het
Fgf17	C	A	14: 70,874,210 (GRCm39)	R193L	probably damaging	Het
Foxred2	T	G	15: 77,832,721 (GRCm39)		probably null	Het
Gad1	T	C	2: 70,404,467 (GRCm39)	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,250,215 (GRCm39)	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,633,587 (GRCm39)	V469I	probably benign	Het
Gja1	A	T	10: 56,264,065 (GRCm39)	E141D	probably benign	Het
Glod4	C	T	11: 76,112,829 (GRCm39)	W268*	probably null	Het
Guf1	C	T	5: 69,720,505 (GRCm39)	H309Y	probably benign	Het
Hax1	A	G	3: 89,903,156 (GRCm39)	V215A	probably damaging	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hephl1	T	A	9: 14,988,050 (GRCm39)	Y686F	probably benign	Het
Hk3	T	C	13: 55,154,843 (GRCm39)		probably null	Het
Ikbkb	G	T	8: 23,155,633 (GRCm39)	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,570,682 (GRCm39)	A208V	probably benign	Het
Kif26b	T	C	1: 178,743,209 (GRCm39)	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383 (GRCm39)	D147E	probably damaging	Het
Klhl3	T	C	13: 58,178,247 (GRCm39)	T348A	probably damaging	Het
Krt10	T	C	11: 99,276,746 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,610,427 (GRCm39)	H1124L	probably benign	Het
Lin7a	A	T	10: 107,247,983 (GRCm39)	Q96L	unknown	Het
Ly6c2	T	G	15: 74,982,438 (GRCm39)	I37L	probably benign	Het
Mov10l1	A	G	15: 88,895,589 (GRCm39)	Y585C	possibly damaging	Het
Msr1	G	A	8: 40,042,334 (GRCm39)	Q414*	probably null	Het
Myh13	T	C	11: 67,261,776 (GRCm39)	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,024,679 (GRCm39)	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,508,731 (GRCm39)	Y530D	probably damaging	Het
Or1ad1	T	C	11: 50,876,194 (GRCm39)	F222S	probably damaging	Het
Or4c11	T	A	2: 88,695,697 (GRCm39)	F249L	probably benign	Het
Or52s1b	T	A	7: 102,822,574 (GRCm39)	H90L	probably benign	Het
Or5b24	A	T	19: 12,912,503 (GRCm39)	T134S	probably benign	Het
Or7e174	T	A	9: 20,012,878 (GRCm39)	N274K	probably benign	Het
Or8j3b	A	G	2: 86,205,265 (GRCm39)	F164L	probably damaging	Het
Pde10a	T	G	17: 9,172,574 (GRCm39)	V648G	probably damaging	Het
Pde7b	T	A	10: 20,294,547 (GRCm39)	H258L	probably damaging	Het
Pik3cb	A	G	9: 98,946,080 (GRCm39)	V582A	possibly damaging	Het
Plxnb1	T	C	9: 108,930,091 (GRCm39)	S316P	probably benign	Het
Pmpca	C	T	2: 26,282,530 (GRCm39)	T246I	probably damaging	Het
Reep3	A	T	10: 66,898,788 (GRCm39)	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,699,149 (GRCm39)	M252V	probably damaging	Het
Rnf168	C	A	16: 32,117,781 (GRCm39)	D447E	probably damaging	Het
Rnf31	T	C	14: 55,834,221 (GRCm39)	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,407,433 (GRCm39)	L340*	probably null	Het
Scn2a	A	G	2: 65,519,085 (GRCm39)	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,501,711 (GRCm39)	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,138,550 (GRCm39)	I344F	probably benign	Het
Slc9a2	T	A	1: 40,758,178 (GRCm39)	L239Q	probably damaging	Het
Smg5	T	C	3: 88,262,978 (GRCm39)	F794L	probably damaging	Het
Smim13	C	T	13: 41,426,168 (GRCm39)	S68L	possibly damaging	Het
Sos2	A	T	12: 69,661,432 (GRCm39)	Y680N	probably damaging	Het
Spag6	T	A	2: 18,739,057 (GRCm39)	M329K	possibly damaging	Het
Spire2	G	A	8: 124,088,105 (GRCm39)		probably null	Het
Tdrd9	T	A	12: 112,011,238 (GRCm39)	V1149D	probably benign	Het
Tns3	T	A	11: 8,468,261 (GRCm39)	Y321F	probably benign	Het
Top3b	T	C	16: 16,698,493 (GRCm39)	V112A	probably benign	Het
Trafd1	G	A	5: 121,517,715 (GRCm39)	T26I	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,564,615 (GRCm39)	L20S	unknown	Het
Vmn2r82	A	T	10: 79,214,545 (GRCm39)	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,458 (GRCm39)	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,090,962 (GRCm39)		probably null	Het
Vwc2	C	T	11: 11,104,262 (GRCm39)	P265S	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp335	T	C	2: 164,740,161 (GRCm39)	T764A	probably benign	Het
Zfp366	T	A	13: 99,383,063 (GRCm39)	V742D	probably damaging	Het
Zfp709	A	T	8: 72,644,506 (GRCm39)	Y645F	probably damaging	Het
Zmym2	T	A	14: 57,150,548 (GRCm39)	C424S	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
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
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'- TGGAAGCATGTGGCAGGTCCTTAG -3'
(R):5'- CATATTGGCACCCAGCTCATGTCTC -3'

Sequencing Primer
(F):5'- CAAGGATGAGTACACCTTTGTG -3'
(R):5'- TGCGCCTTGCGGAAGTAG -3'

Posted On

2014-03-17