Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Chml'

584661

Institutional Source

Beutler Lab

Gene Symbol

Chml

Ensembl Gene

ENSMUSG00000078185

Gene Name

choroideremia-like

Synonyms

E030003F13Rik, Rep2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175682237-175692901 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175687890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 155 (P155L)

Ref Sequence

ENSEMBL: ENSMUSP00000100600 (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: P155L

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

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: P155L

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: P155L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211489

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mmp14	G	T	14: 54,437,742	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Chml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Chml	APN	1	175687705	missense	probably benign	0.04
IGL01959:Chml	APN	1	175687600	missense	probably benign	0.30
IGL01981:Chml	APN	1	175688185	missense	probably damaging	0.98
IGL02321:Chml	APN	1	175692334	missense	possibly damaging	0.73
IGL03206:Chml	APN	1	175687737	missense	probably benign	0.00
R0323:Chml	UTSW	1	175687084	missense	probably benign	0.23
R0504:Chml	UTSW	1	175687182	missense	probably damaging	1.00
R0665:Chml	UTSW	1	175687895	missense	probably benign	0.01
R1770:Chml	UTSW	1	175687878	missense	probably benign	0.00
R1936:Chml	UTSW	1	175687259	nonsense	probably null
R3864:Chml	UTSW	1	175688244	missense	probably damaging	1.00
R4213:Chml	UTSW	1	175686695	missense	probably damaging	1.00
R4271:Chml	UTSW	1	175687794	missense	probably benign	0.16
R4576:Chml	UTSW	1	175686940	missense	probably damaging	0.97
R4609:Chml	UTSW	1	175687157	nonsense	probably null
R4649:Chml	UTSW	1	175687396	missense	probably benign	0.04
R4922:Chml	UTSW	1	175687146	missense	possibly damaging	0.89
R6007:Chml	UTSW	1	175688028	missense	probably benign	0.00
R6090:Chml	UTSW	1	175687058	nonsense	probably null
R6287:Chml	UTSW	1	175687003	missense	probably benign	0.01
R6558:Chml	UTSW	1	175687182	missense	probably damaging	1.00
R6944:Chml	UTSW	1	175688161	missense	probably damaging	0.99
R7871:Chml	UTSW	1	175687400	frame shift	probably null
R8459:Chml	UTSW	1	175688031	missense	probably benign	0.01
R8963:Chml	UTSW	1	175687035	missense	probably damaging	1.00
X0013:Chml	UTSW	1	175687116	missense	probably benign	0.06
Z1176:Chml	UTSW	1	175687762	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CGGCTCTCCTTAACCATTTGAG -3'
(R):5'- AAGAAGCCATCTCTCTTCGC -3'

Sequencing Primer
(F):5'- GCTCTCCTTAACCATTTGAGAGTAAG -3'
(R):5'- TCGCAAGAAGGATGAAACTATTCAGC -3'

Posted On

2019-10-17