Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Chdh'

546407

Institutional Source

Beutler Lab

Gene Symbol

Chdh

Ensembl Gene

ENSMUSG00000015970

Gene Name

choline dehydrogenase

Synonyms

D630034H06Rik

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29730957-29762423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29758809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 585 (P585S)

Ref Sequence

ENSEMBL: ENSMUSP00000112916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000112249] [ENSMUST00000112250] [ENSMUST00000118917] [ENSMUST00000224395] [ENSMUST00000224785]

AlphaFold

Q8BJ64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067620
AA Change: P585S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
AA Change: P585S

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 benign
Transcript: ENSMUST00000112249

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968

Domain	Start	End	E-Value	Type
low complexity region	1	10	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
Pfam:Ion_trans	163	405	4.8e-59	PFAM
PDB:4DEY\|B	406	502	3e-38	PDB
low complexity region	503	517	N/A	INTRINSIC
Pfam:Ion_trans	557	751	5.5e-46	PFAM
low complexity region	766	781	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
Pfam:Ion_trans	921	1151	7.2e-51	PFAM
Pfam:Ion_trans	1239	1448	3.6e-67	PFAM
Pfam:PKD_channel	1285	1455	1.9e-9	PFAM
Blast:EFh	1469	1497	2e-9	BLAST
Ca_chan_IQ	1583	1617	5.05e-16	SMART
low complexity region	1649	1661	N/A	INTRINSIC
low complexity region	1722	1728	N/A	INTRINSIC
low complexity region	1830	1840	N/A	INTRINSIC
low complexity region	1885	1905	N/A	INTRINSIC
low complexity region	1921	1936	N/A	INTRINSIC
low complexity region	2122	2133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112250

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000118917
AA Change: P585S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970
AA Change: P585S

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

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably benign
Transcript: ENSMUST00000224785

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	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
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'- CTCGTGCACCTGTAAGATGG -3'
(R):5'- CAGAAACCATGAAAGTCTGAGC -3'

Sequencing Primer
(F):5'- TAAGATGGGCCGGTCCTCTG -3'
(R):5'- CCATGAAAGTCTGAGCCAAGAGTC -3'

Posted On

2019-05-13