Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01959:Chml'

182304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chml

Ensembl Gene

ENSMUSG00000078185

Gene Name

choroideremia-like

Synonyms

Rep2, E030003F13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

175509803-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 175515166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 252 (V252I)

Ref Sequence

ENSEMBL: ENSMUSP00000147889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000104984] [ENSMUST00000209720] [ENSMUST00000210367] [ENSMUST00000211207] [ENSMUST00000211489]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027809

SMART Domains

Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
Pfam:7tm_1	56	307	4.7e-36	PFAM
low complexity region	314	331	N/A	INTRINSIC
low complexity region	363	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000104984
AA Change: V252I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: V252I

Domain	Start	End	E-Value	Type
Pfam:GDI	5	106	3.1e-14	PFAM
Pfam:GDI	200	534	1e-49	PFAM
low complexity region	598	618	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209720

Predicted Effect

probably benign
Transcript: ENSMUST00000210367

Predicted Effect

probably benign
Transcript: ENSMUST00000211207
AA Change: V252I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000211489

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 50,982,645 (GRCm39)		noncoding transcript	Het
Aip	A	G	19: 4,171,397 (GRCm39)	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,417,895 (GRCm39)	P140S	probably benign	Het
Cald1	A	G	6: 34,730,403 (GRCm39)	D40G	probably damaging	Het
Cep250	T	A	2: 155,825,279 (GRCm39)	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,962,435 (GRCm39)	N731D	probably damaging	Het
Cog8	T	C	8: 107,783,010 (GRCm39)	Y93C	probably damaging	Het
Creld1	G	A	6: 113,469,794 (GRCm39)	A399T	probably damaging	Het
Cyp2a4	T	A	7: 26,007,133 (GRCm39)	V80E	probably damaging	Het
Cyp2c37	T	A	19: 39,984,277 (GRCm39)	L255*	probably null	Het
Cyp2d12	C	A	15: 82,439,545 (GRCm39)		probably benign	Het
Dimt1	A	G	13: 107,089,963 (GRCm39)	I229V	probably benign	Het
Dsc1	G	A	18: 20,230,282 (GRCm39)	T341I	probably damaging	Het
Ercc3	T	A	18: 32,390,411 (GRCm39)	F567I	probably damaging	Het
Espl1	C	A	15: 102,214,097 (GRCm39)		probably benign	Het
Fcrl2	T	C	3: 87,166,939 (GRCm39)	D18G	probably damaging	Het
Fnip1	T	A	11: 54,381,738 (GRCm39)	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,775,105 (GRCm39)	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,247,108 (GRCm39)		probably benign	Het
Gm3298	T	C	14: 5,018,731 (GRCm38)	L162S	probably damaging	Het
Hspa1l	A	G	17: 35,196,111 (GRCm39)	E50G	probably damaging	Het
Ipo9	T	C	1: 135,348,093 (GRCm39)		probably null	Het
Kazn	A	G	4: 141,878,195 (GRCm39)	L185P	probably damaging	Het
Kcnh8	T	C	17: 53,141,635 (GRCm39)	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,202,539 (GRCm39)	T1191A	probably damaging	Het
Mnat1	A	G	12: 73,228,705 (GRCm39)		probably benign	Het
Msx2	C	T	13: 53,622,638 (GRCm39)		probably benign	Het
Ndufs2	T	G	1: 171,064,798 (GRCm39)	I317L	probably benign	Het
Nms	T	C	1: 38,981,006 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,678,286 (GRCm39)	F87L	probably benign	Het
Pask	A	G	1: 93,262,329 (GRCm39)	V177A	probably benign	Het
Poldip2	G	T	11: 78,403,133 (GRCm39)		probably benign	Het
Prr14l	A	T	5: 32,987,549 (GRCm39)	S649T	possibly damaging	Het
Slc6a18	T	A	13: 73,825,984 (GRCm39)	N22I	probably damaging	Het
Smco2	T	A	6: 146,763,208 (GRCm39)	S228T	probably benign	Het
Speer4a1	G	A	5: 26,240,902 (GRCm39)	Q197*	probably null	Het
Speg	A	G	1: 75,367,734 (GRCm39)	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,553 (GRCm39)	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,197,012 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,589,019 (GRCm39)		probably benign	Het
Top2b	T	A	14: 16,422,695 (GRCm38)	N1377K	probably benign	Het
Trmt1	T	A	8: 85,418,005 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,858,723 (GRCm39)	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,567,290 (GRCm39)	T195A	probably benign	Het
Vmn2r10	A	G	5: 109,145,571 (GRCm39)	V512A	probably benign	Het
Zfp777	A	G	6: 48,021,275 (GRCm39)	F116L	probably benign	Het
Zp3r	T	A	1: 130,519,188 (GRCm39)	K253*	probably null	Het

Other mutations in Chml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Chml	APN	1	175,515,271 (GRCm39)	missense	probably benign	0.04
IGL01981:Chml	APN	1	175,515,751 (GRCm39)	missense	probably damaging	0.98
IGL02321:Chml	APN	1	175,519,900 (GRCm39)	missense	possibly damaging	0.73
IGL03206:Chml	APN	1	175,515,303 (GRCm39)	missense	probably benign	0.00
R0323:Chml	UTSW	1	175,514,650 (GRCm39)	missense	probably benign	0.23
R0504:Chml	UTSW	1	175,514,748 (GRCm39)	missense	probably damaging	1.00
R0665:Chml	UTSW	1	175,515,461 (GRCm39)	missense	probably benign	0.01
R1770:Chml	UTSW	1	175,515,444 (GRCm39)	missense	probably benign	0.00
R1936:Chml	UTSW	1	175,514,825 (GRCm39)	nonsense	probably null
R3864:Chml	UTSW	1	175,515,810 (GRCm39)	missense	probably damaging	1.00
R4213:Chml	UTSW	1	175,514,261 (GRCm39)	missense	probably damaging	1.00
R4271:Chml	UTSW	1	175,515,360 (GRCm39)	missense	probably benign	0.16
R4576:Chml	UTSW	1	175,514,506 (GRCm39)	missense	probably damaging	0.97
R4609:Chml	UTSW	1	175,514,723 (GRCm39)	nonsense	probably null
R4649:Chml	UTSW	1	175,514,962 (GRCm39)	missense	probably benign	0.04
R4922:Chml	UTSW	1	175,514,712 (GRCm39)	missense	possibly damaging	0.89
R6007:Chml	UTSW	1	175,515,594 (GRCm39)	missense	probably benign	0.00
R6090:Chml	UTSW	1	175,514,624 (GRCm39)	nonsense	probably null
R6287:Chml	UTSW	1	175,514,569 (GRCm39)	missense	probably benign	0.01
R6558:Chml	UTSW	1	175,514,748 (GRCm39)	missense	probably damaging	1.00
R6944:Chml	UTSW	1	175,515,727 (GRCm39)	missense	probably damaging	0.99
R7555:Chml	UTSW	1	175,515,456 (GRCm39)	missense	probably benign	0.00
R7871:Chml	UTSW	1	175,514,966 (GRCm39)	frame shift	probably null
R8459:Chml	UTSW	1	175,515,597 (GRCm39)	missense	probably benign	0.01
R8963:Chml	UTSW	1	175,514,601 (GRCm39)	missense	probably damaging	1.00
X0013:Chml	UTSW	1	175,514,682 (GRCm39)	missense	probably benign	0.06
Z1176:Chml	UTSW	1	175,515,328 (GRCm39)	missense	possibly damaging	0.85

Posted On

2014-05-07