Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Chml'

479519

Institutional Source

Beutler Lab

Gene Symbol

Chml

Ensembl Gene

ENSMUSG00000078185

Gene Name

choroideremia-like

Synonyms

Rep2, E030003F13Rik

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

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

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175509803-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175515594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

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: V109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: V109A

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: V109A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211489

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,137,900 (GRCm39)	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 81,946,940 (GRCm39)	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,582,140 (GRCm39)		probably null	Het
Abcg5	T	G	17: 84,976,392 (GRCm39)	I482L	probably benign	Het
Adgrf5	T	A	17: 43,748,462 (GRCm39)	D44E	probably damaging	Het
Amh	A	G	10: 80,641,305 (GRCm39)	N75S	probably benign	Het
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,784,480 (GRCm39)	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,463,878 (GRCm39)	E1449V	probably null	Het
Crybg3	G	T	16: 59,374,837 (GRCm39)	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,722,780 (GRCm39)	D256G	probably damaging	Het
Dchs2	G	T	3: 83,253,534 (GRCm39)	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,590,736 (GRCm39)	I227V	possibly damaging	Het
Drg2	T	C	11: 60,353,451 (GRCm39)	V266A	possibly damaging	Het
Flcn	C	A	11: 59,683,448 (GRCm39)	E576D	probably benign	Het
Fstl5	T	A	3: 76,317,899 (GRCm39)	D188E	probably damaging	Het
Gm14496	A	G	2: 181,639,323 (GRCm39)	Q471R	probably benign	Het
Gm43772	T	C	5: 66,332,334 (GRCm39)		probably benign	Het
Gpc6	C	T	14: 118,188,673 (GRCm39)	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,226,628 (GRCm39)	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845 (GRCm39)	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,637,969 (GRCm39)	C1050*	probably null	Het
Larp4b	T	C	13: 9,218,793 (GRCm39)	V510A	probably benign	Het
Map3k13	A	T	16: 21,723,933 (GRCm39)	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,472,318 (GRCm39)	I226F	possibly damaging	Het
Mme	G	A	3: 63,250,929 (GRCm39)	W323*	probably null	Het
Mrpl24	A	G	3: 87,829,705 (GRCm39)	Y97C	probably benign	Het
Mslnl	G	A	17: 25,965,749 (GRCm39)	S541N	probably benign	Het
Npepl1	T	C	2: 173,962,850 (GRCm39)	V412A	probably benign	Het
Nrg3	T	A	14: 39,194,409 (GRCm39)	K117*	probably null	Het
Or11j4	G	T	14: 50,630,948 (GRCm39)	C245F	probably damaging	Het
Or4f52	T	C	2: 111,061,275 (GRCm39)	T288A	probably benign	Het
Orc2	A	T	1: 58,506,851 (GRCm39)	M447K	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,629,152 (GRCm39)	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,010,293 (GRCm39)	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,317,957 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slc4a10	A	G	2: 62,099,216 (GRCm39)	M625V	probably benign	Het
Synpo	T	A	18: 60,736,687 (GRCm39)	M420L	probably benign	Het
Tmem116	A	C	5: 121,655,955 (GRCm39)	*147C	probably null	Het
Top2b	G	A	14: 16,423,779 (GRCm38)		probably null	Het
Trp53bp2	T	A	1: 182,283,305 (GRCm39)	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,601,139 (GRCm39)	F896L	probably damaging	Het
Vil1	T	C	1: 74,459,026 (GRCm39)	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,595,316 (GRCm39)	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,289,535 (GRCm39)	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,801,177 (GRCm39)	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,076,064 (GRCm39)	M472V	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp677	A	G	17: 21,617,918 (GRCm39)	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,605,478 (GRCm39)	F407S	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
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
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'- TCCAGTGAGTCCTCCACATTAG -3'
(R):5'- GGAATTGGGCGAGTTTCAGC -3'

Sequencing Primer
(F):5'- AGTGAGTCCTCCACATTAGCTGAG -3'
(R):5'- AGCTTTACAGGTTTGCAGTCC -3'

Posted On

2017-06-26