Mutagenetix > Incidental Mutation

Incidental Mutation 'R4609:Chml'

344489

Institutional Source

Beutler Lab

Gene Symbol

Chml

Ensembl Gene

ENSMUSG00000078185

Gene Name

choroideremia-like

Synonyms

Rep2, E030003F13Rik

MMRRC Submission

041820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175509803-175520198 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 175514723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 399 (Y399*)

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 null
Transcript: ENSMUST00000104984
AA Change: Y399*

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: Y399*

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 null
Transcript: ENSMUST00000210367
AA Change: Y56*

Predicted Effect

probably null
Transcript: ENSMUST00000211207
AA Change: Y399*

Predicted Effect

probably benign
Transcript: ENSMUST00000211489

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,378,370 (GRCm39)	D91G	unknown	Het
Adam10	T	C	9: 70,647,425 (GRCm39)	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,469,235 (GRCm39)	C183S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bmp1	C	T	14: 70,715,406 (GRCm39)	V910M	probably benign	Het
Brdt	G	A	5: 107,507,802 (GRCm39)	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,578 (GRCm39)	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267 (GRCm39)	D71V	possibly damaging	Het
Cilk1	T	A	9: 78,075,071 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,430,765 (GRCm39)		probably benign	Het
Cntnap5b	G	A	1: 99,700,572 (GRCm39)		probably null	Het
Cpvl	A	T	6: 53,951,605 (GRCm39)		probably null	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,346,255 (GRCm39)	Y226C	probably damaging	Het
Dio3	G	T	12: 110,246,444 (GRCm39)	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,353,796 (GRCm39)	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,495,816 (GRCm39)	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999 (GRCm39)	Y223*	probably null	Het
Dpysl4	T	C	7: 138,678,537 (GRCm39)	V499A	probably damaging	Het
Ets2	A	T	16: 95,512,818 (GRCm39)	K101N	probably benign	Het
Fbn2	A	T	18: 58,323,341 (GRCm39)	Y200*	probably null	Het
Fem1c	A	T	18: 46,639,015 (GRCm39)	I329N	probably damaging	Het
Fhip1b	A	G	7: 105,037,431 (GRCm39)	I384T	probably damaging	Het
Gm8919	T	C	3: 11,724,530 (GRCm39)		noncoding transcript	Het
H2-Q5	A	T	17: 35,616,056 (GRCm39)	H206L	probably benign	Het
Hexa	T	C	9: 59,464,602 (GRCm39)	F164S	probably benign	Het
Hk1	G	T	10: 62,194,194 (GRCm39)		probably benign	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,475,292 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,630 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,763,013 (GRCm39)	H650Q	probably damaging	Het
Mief1	C	A	15: 80,132,454 (GRCm39)	P112Q	probably benign	Het
Morc3	A	G	16: 93,661,856 (GRCm39)	E472G	probably benign	Het
Nap1l1	T	A	10: 111,328,741 (GRCm39)	Y223*	probably null	Het
Nfix	A	T	8: 85,453,119 (GRCm39)	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,869,510 (GRCm39)	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,724,912 (GRCm39)	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,117,173 (GRCm39)	Y299F	probably benign	Het
Nnt	T	C	13: 119,494,072 (GRCm39)	I556V	possibly damaging	Het
Oasl2	A	T	5: 115,037,857 (GRCm39)	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,305,393 (GRCm39)	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,847,733 (GRCm39)	V431L	probably damaging	Het
Or4d5	T	C	9: 40,012,102 (GRCm39)	H228R	possibly damaging	Het
Or5p79	A	T	7: 108,221,711 (GRCm39)	M231L	probably benign	Het
Palb2	G	T	7: 121,723,946 (GRCm39)	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,638,849 (GRCm39)	M458I	probably benign	Het
Pde11a	T	C	2: 76,121,585 (GRCm39)	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,908,964 (GRCm39)	E347K	unknown	Het
Pou2af1	G	A	9: 51,149,525 (GRCm39)	V206I	possibly damaging	Het
Prr16	A	G	18: 51,251,139 (GRCm39)	D46G	possibly damaging	Het
Pus1	A	G	5: 110,928,184 (GRCm39)	M1T	probably null	Het
Pygm	T	A	19: 6,441,439 (GRCm39)	V566D	possibly damaging	Het
Rb1	T	A	14: 73,499,954 (GRCm39)		probably benign	Het
Rhoj	A	T	12: 75,446,980 (GRCm39)	K200*	probably null	Het
Rnf213	A	G	11: 119,328,521 (GRCm39)	I1985V	possibly damaging	Het
Septin11	G	T	5: 93,310,113 (GRCm39)	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,653,153 (GRCm39)	Y383C	probably damaging	Het
Sfpq	G	C	4: 126,915,404 (GRCm39)	Q65H	unknown	Het
Skic8	A	G	9: 54,635,463 (GRCm39)	V46A	probably benign	Het
Stard3nl	G	T	13: 19,554,434 (GRCm39)	A180E	probably damaging	Het
Tanc2	A	G	11: 105,801,066 (GRCm39)	N1094S	probably benign	Het
Trf	C	T	9: 103,089,184 (GRCm39)	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,388,476 (GRCm39)		probably benign	Het
Tubb3	A	G	8: 124,147,658 (GRCm39)	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,749,056 (GRCm39)	H135R	probably damaging	Het
Ugt1a10	A	T	1: 87,983,204 (GRCm39)	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 21,214,677 (GRCm39)	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,531 (GRCm39)	D580V	probably damaging	Het
Vps33b	A	G	7: 79,940,866 (GRCm39)	Y593C	probably benign	Het
Wdr19	A	G	5: 65,385,885 (GRCm39)	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,047,516 (GRCm39)	R853Q	probably damaging	Het
Xirp1	T	C	9: 119,845,572 (GRCm39)	T1104A	probably benign	Het
Yipf1	G	A	4: 107,201,880 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,809 (GRCm39)	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,344,055 (GRCm39)	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889 (GRCm39)	T1285M	probably damaging	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
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
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'- AAAATGGAAATCTGCTGGTCCG -3'
(R):5'- GCAATGACATCAGAATCATCTTGC -3'

Sequencing Primer
(F):5'- CCGAATCTGTCTTCAGGATGGAC -3'
(R):5'- GCACTACATTAGATGGCCTTCAAG -3'

Posted On

2015-09-25