Mutagenetix > Incidental Mutation

Incidental Mutation 'R1770:Chml'

196463

Institutional Source

Beutler Lab

Gene Symbol

Chml

Ensembl Gene

ENSMUSG00000078185

Gene Name

choroideremia-like

Synonyms

Rep2, E030003F13Rik

MMRRC Submission

039801-MU

Accession Numbers

Essential gene?

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

Stock #

R1770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175509803-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175515444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 159 (T159I)

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: T159I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: T159I

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: T159I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000211489

Meta Mutation Damage Score

0.1434

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,661,874 (GRCm39)	T84A	probably benign	Het
Adgra1	T	A	7: 139,453,947 (GRCm39)	Y161*	probably null	Het
Aldoart1	G	T	4: 72,770,173 (GRCm39)	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861 (GRCm39)	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,391,235 (GRCm39)	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,376,528 (GRCm39)	T131A	probably benign	Het
Baz1a	C	T	12: 54,945,293 (GRCm39)	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,228,108 (GRCm39)	V71A	probably benign	Het
C4b	T	A	17: 34,955,901 (GRCm39)	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,357,657 (GRCm39)	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,487 (GRCm39)	S786P	probably benign	Het
Cep135	A	G	5: 76,751,042 (GRCm39)	E296G	possibly damaging	Het
Cntn3	C	T	6: 102,246,166 (GRCm39)	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,214,983 (GRCm39)	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,070,642 (GRCm39)	K275R	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbx2	T	C	15: 95,522,615 (GRCm39)	E364G	probably benign	Het
Dcaf13	A	T	15: 38,993,633 (GRCm39)	N242I	probably damaging	Het
Dcc	A	G	18: 71,579,470 (GRCm39)	V701A	probably benign	Het
Elapor2	A	T	5: 9,468,021 (GRCm39)	T230S	probably benign	Het
Fastkd5	A	T	2: 130,456,200 (GRCm39)	Y797N	probably damaging	Het
Fat4	T	A	3: 39,064,417 (GRCm39)	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,051,048 (GRCm39)	I45V	possibly damaging	Het
Gng4	A	G	13: 13,999,851 (GRCm39)	D40G	probably damaging	Het
Gns	A	G	10: 121,213,952 (GRCm39)	D209G	probably benign	Het
Kif6	C	A	17: 50,210,677 (GRCm39)	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,123,082 (GRCm39)	V569M	possibly damaging	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lrrc8c	A	G	5: 105,754,603 (GRCm39)	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,838 (GRCm39)	V62A	probably benign	Het
Map1b	T	C	13: 99,567,001 (GRCm39)	R1907G	unknown	Het
Mertk	A	G	2: 128,592,094 (GRCm39)	I273V	probably benign	Het
Mfsd4b1	A	G	10: 39,879,223 (GRCm39)	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,229,619 (GRCm39)	V684A	probably damaging	Het
Msh6	G	A	17: 88,287,651 (GRCm39)	W97*	probably null	Het
Mtmr10	A	G	7: 63,986,469 (GRCm39)	I516V	possibly damaging	Het
Myo7a	A	T	7: 97,761,813 (GRCm39)		probably benign	Het
Ndufs5	T	C	4: 123,606,661 (GRCm39)	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,050,979 (GRCm39)	V1035I	probably benign	Het
Ntrk2	A	G	13: 59,009,132 (GRCm39)	R308G	possibly damaging	Het
Or12e13	A	G	2: 87,663,643 (GRCm39)	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,612,233 (GRCm39)	G398W	probably damaging	Het
Plpbp	T	A	8: 27,543,326 (GRCm39)	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,584,634 (GRCm39)	F769I	possibly damaging	Het
Polk	A	G	13: 96,631,950 (GRCm39)	V261A	probably damaging	Het
Prss52	C	T	14: 64,351,082 (GRCm39)	A289V	probably damaging	Het
Puf60	T	C	15: 75,942,723 (GRCm39)	K407E	probably benign	Het
Pzp	T	C	6: 128,462,580 (GRCm39)	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,167,301 (GRCm39)	N1054S	probably benign	Het
Sdk2	A	G	11: 113,684,567 (GRCm39)	S1965P	probably benign	Het
Spryd7	T	C	14: 61,777,654 (GRCm39)	Y142C	probably damaging	Het
Srrt	A	T	5: 137,298,122 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,572,464 (GRCm39)	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,714,934 (GRCm39)	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681 (GRCm39)		probably benign	Het
Trim29	A	T	9: 43,243,673 (GRCm39)	Q564L	probably damaging	Het
Trim5	T	C	7: 103,925,868 (GRCm39)	D231G	probably damaging	Het
Trpv2	A	G	11: 62,487,787 (GRCm39)	K676E	probably benign	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,129,160 (GRCm39)	I268V	probably benign	Het
Ugt8a	T	C	3: 125,667,852 (GRCm39)	N330D	probably benign	Het
Utrn	G	A	10: 12,351,040 (GRCm39)	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,534,946 (GRCm39)	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,488,560 (GRCm39)	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,686,857 (GRCm39)	W296R	probably damaging	Het
Zfp11	G	A	5: 129,734,822 (GRCm39)	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,618,790 (GRCm39)	F193I	probably damaging	Het
Zfp764	G	A	7: 127,004,739 (GRCm39)	Q131*	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
IGL01959:Chml	APN	1	175,515,166 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGACCCTTGAGAATACAGCGGC -3'
(R):5'- TGGCAAGACCTGATCCATGAAACAG -3'

Sequencing Primer
(F):5'- GAATACAGCGGCTTTGATACC -3'
(R):5'- TCTCTCTTCGCAAGAAGGATG -3'

Posted On

2014-05-23