Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02019:Cdv3'

183915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdv3

Ensembl Gene

ENSMUSG00000032803

Gene Name

carnitine deficiency-associated gene expressed in ventricle 3

Synonyms

2510010F10Rik, C230084J24Rik, TPP36

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02019

Quality Score

Status

Chromosome

Chromosomal Location

103230301-103243034 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103237224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035484] [ENSMUST00000072249] [ENSMUST00000116517] [ENSMUST00000189896] [ENSMUST00000190226]

AlphaFold

Q4VAA2

Predicted Effect

probably benign
Transcript: ENSMUST00000035484

SMART Domains

Protein: ENSMUSP00000044420
Gene: ENSMUSG00000032803

Domain	Start	End	E-Value	Type
low complexity region	14	100	N/A	INTRINSIC
Pfam:CDV3	106	226	3.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072249

SMART Domains

Protein: ENSMUSP00000072101
Gene: ENSMUSG00000032803

Domain	Start	End	E-Value	Type
low complexity region	14	100	N/A	INTRINSIC
Pfam:CDV3	105	231	7.4e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116517

SMART Domains

Protein: ENSMUSP00000112216
Gene: ENSMUSG00000032803

Domain	Start	End	E-Value	Type
Pfam:CDV3	1	104	2.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189875

Predicted Effect

probably benign
Transcript: ENSMUST00000189896

SMART Domains

Protein: ENSMUSP00000139440
Gene: ENSMUSG00000032803

Domain	Start	End	E-Value	Type
low complexity region	14	100	N/A	INTRINSIC
Pfam:CDV3	105	231	1.6e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190127

Predicted Effect

probably benign
Transcript: ENSMUST00000190226

SMART Domains

Protein: ENSMUSP00000140900
Gene: ENSMUSG00000032803

Domain	Start	End	E-Value	Type
Pfam:CDV3	1	104	1.3e-51	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	C	T	5: 115,017,645 (GRCm39)	A178V	possibly damaging	Het
Acad11	A	G	9: 103,992,544 (GRCm39)	I495M	probably damaging	Het
Adgrd1	T	C	5: 129,192,202 (GRCm39)	S91P	probably benign	Het
Agk	A	G	6: 40,353,160 (GRCm39)	I175V	probably damaging	Het
Ascc3	A	T	10: 50,566,235 (GRCm39)	N727Y	probably damaging	Het
Atrnl1	A	T	19: 57,680,195 (GRCm39)		probably benign	Het
B4galt3	G	A	1: 171,099,362 (GRCm39)	G42D	probably damaging	Het
Brd10	A	T	19: 29,694,463 (GRCm39)	S976T	probably benign	Het
Brip1	C	T	11: 86,088,775 (GRCm39)	C42Y	possibly damaging	Het
Camkk1	T	C	11: 72,928,027 (GRCm39)	F233L	probably damaging	Het
Cd300ld	A	T	11: 114,878,227 (GRCm39)	M95K	probably damaging	Het
Cog3	G	T	14: 75,968,044 (GRCm39)	Q430K	possibly damaging	Het
D6Wsu163e	G	A	6: 126,932,184 (GRCm39)	G308S	probably damaging	Het
Dnah2	A	G	11: 69,365,111 (GRCm39)	M1951T	probably damaging	Het
Elavl3	G	A	9: 21,948,014 (GRCm39)	T51I	probably damaging	Het
Eri2	A	T	7: 119,385,303 (GRCm39)	C399*	probably null	Het
Ezh2	A	T	6: 47,528,835 (GRCm39)		probably null	Het
Fgd6	C	A	10: 93,969,216 (GRCm39)	T1161K	probably damaging	Het
Gbf1	A	T	19: 46,267,731 (GRCm39)	H1193L	possibly damaging	Het
Gbp2b	T	A	3: 142,312,751 (GRCm39)	F378Y	possibly damaging	Het
Hectd2	G	A	19: 36,592,916 (GRCm39)	V694M	possibly damaging	Het
Hook1	T	A	4: 95,910,434 (GRCm39)	S683T	probably benign	Het
Ifi202b	G	A	1: 173,802,550 (GRCm39)	R95C	possibly damaging	Het
Kdm8	G	T	7: 125,051,658 (GRCm39)	V84L	probably damaging	Het
Kifc3	G	A	8: 95,834,168 (GRCm39)		probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lrig1	G	T	6: 94,593,410 (GRCm39)	Q424K	probably damaging	Het
Lrriq1	A	T	10: 103,014,661 (GRCm39)	M1049K	probably benign	Het
Mcidas	A	G	13: 113,133,377 (GRCm39)	N103D	probably benign	Het
Mdn1	T	C	4: 32,749,948 (GRCm39)	L4377S	possibly damaging	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Mug2	G	A	6: 122,024,394 (GRCm39)	V489I	probably benign	Het
P2rx5	G	T	11: 73,058,803 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,289 (GRCm39)		probably benign	Het
Pknox2	A	G	9: 36,834,929 (GRCm39)	L180P	probably damaging	Het
Psmd5	C	A	2: 34,744,286 (GRCm39)	C412F	probably benign	Het
Rbks	T	A	5: 31,817,361 (GRCm39)	D136V	probably damaging	Het
Rgl1	A	G	1: 152,404,220 (GRCm39)		probably benign	Het
Scube3	A	G	17: 28,386,658 (GRCm39)	D721G	probably damaging	Het
Snrnp200	T	A	2: 127,074,825 (GRCm39)	V1466D	possibly damaging	Het
Stambp	A	T	6: 83,529,013 (GRCm39)	L344Q	probably damaging	Het
Tctn1	A	T	5: 122,396,912 (GRCm39)	I157N	probably damaging	Het
Top2b	T	A	14: 16,409,965 (GRCm38)	D877E	probably benign	Het
Vmn1r78	G	A	7: 11,886,634 (GRCm39)	G82S	probably damaging	Het
Vnn1	T	C	10: 23,779,449 (GRCm39)	F453L	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Cdv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02641:Cdv3	APN	9	103,241,223 (GRCm39)	missense	probably damaging	1.00
LCD18:Cdv3	UTSW	9	103,242,553 (GRCm39)	unclassified	probably benign
LCD18:Cdv3	UTSW	9	103,242,542 (GRCm39)	unclassified	probably benign
R2422:Cdv3	UTSW	9	103,242,317 (GRCm39)	unclassified	probably benign
R5386:Cdv3	UTSW	9	103,232,429 (GRCm39)	missense	possibly damaging	0.92
R5401:Cdv3	UTSW	9	103,242,316 (GRCm39)	unclassified	probably benign
R5995:Cdv3	UTSW	9	103,241,202 (GRCm39)	missense	probably damaging	1.00
R7963:Cdv3	UTSW	9	103,241,210 (GRCm39)	missense	probably damaging	1.00
R8392:Cdv3	UTSW	9	103,232,474 (GRCm39)	missense	probably benign	0.35
R8859:Cdv3	UTSW	9	103,233,594 (GRCm39)	missense	probably damaging	1.00
R9445:Cdv3	UTSW	9	103,241,240 (GRCm39)	missense	probably damaging	1.00
R9711:Cdv3	UTSW	9	103,233,539 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07