Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Chml'

183473

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 #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

175509803-175520198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175515751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 57 (S57P)

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 damaging
Transcript: ENSMUST00000104984
AA Change: S57P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185
AA Change: S57P

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 damaging
Transcript: ENSMUST00000211207
AA Change: S57P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	C	7: 27,337,499 (GRCm39)	D417A	probably benign	Het
Ap1b1	T	A	11: 4,969,336 (GRCm39)	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,421,935 (GRCm39)	T1377I	probably damaging	Het
Cdkl3	A	G	11: 51,895,896 (GRCm39)	T48A	probably benign	Het
Chd3	T	C	11: 69,251,501 (GRCm39)	Y510C	probably damaging	Het
Cpxm1	G	T	2: 130,236,060 (GRCm39)	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,528,319 (GRCm39)	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,519,033 (GRCm39)	I325F	probably damaging	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,407,519 (GRCm39)	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481 (GRCm39)	I300V	probably benign	Het
Fam193a	A	G	5: 34,588,537 (GRCm39)	E76G	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Furin	A	G	7: 80,042,647 (GRCm39)	L380P	probably damaging	Het
Fxr2	A	C	11: 69,541,328 (GRCm39)	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,887,741 (GRCm39)	N756K	probably damaging	Het
Gimap1	A	G	6: 48,720,258 (GRCm39)	Y290C	probably damaging	Het
Gm5592	G	A	7: 40,935,795 (GRCm39)	W99*	probably null	Het
Hexd	G	T	11: 121,107,819 (GRCm39)	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,384,514 (GRCm39)	P95S	probably damaging	Het
Jhy	A	T	9: 40,806,842 (GRCm39)	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,901,267 (GRCm39)	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629 (GRCm39)	S76R	probably damaging	Het
Myom3	C	T	4: 135,513,160 (GRCm39)	R613*	probably null	Het
Naa16	T	A	14: 79,618,956 (GRCm39)	E172D	probably benign	Het
Obox6	A	T	7: 15,568,846 (GRCm39)	M10K	possibly damaging	Het
Or5al5	A	T	2: 85,961,174 (GRCm39)	Y278N	probably benign	Het
Pam	C	T	1: 97,762,166 (GRCm39)	V700M	probably damaging	Het
Phf8-ps	C	T	17: 33,286,628 (GRCm39)	G58E	probably damaging	Het
Pkd1l2	C	A	8: 117,743,655 (GRCm39)	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,593,791 (GRCm39)	T1441S	possibly damaging	Het
Plg	A	G	17: 12,621,934 (GRCm39)		probably benign	Het
Pot1a	A	G	6: 25,750,099 (GRCm39)	L521P	probably damaging	Het
Pramel14	G	A	4: 143,720,924 (GRCm39)	P6S	probably damaging	Het
Ptprj	A	T	2: 90,270,256 (GRCm39)	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,402,222 (GRCm39)	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,558,369 (GRCm39)	E1157K	possibly damaging	Het
Sell	G	A	1: 163,893,195 (GRCm39)	R137Q	probably benign	Het
Shisa9	A	T	16: 12,062,522 (GRCm39)	M248L	probably benign	Het
Spag17	A	G	3: 99,966,149 (GRCm39)	E1144G	probably benign	Het
Sphk2	G	T	7: 45,360,157 (GRCm39)	Q616K	probably benign	Het
Tecrl	T	C	5: 83,442,453 (GRCm39)	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,842 (GRCm39)	T1885A	probably benign	Het
Usp24	T	C	4: 106,232,965 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,927,350 (GRCm39)	M622T	probably benign	Het
Vangl1	A	G	3: 102,091,607 (GRCm39)	F160L	probably damaging	Het
Vps13d	T	C	4: 144,813,317 (GRCm39)	S3289G	probably damaging	Het
Wdfy4	A	G	14: 32,855,673 (GRCm39)	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,498,907 (GRCm39)	L509P	probably damaging	Het
Zcchc2	A	G	1: 105,955,229 (GRCm39)	E640G	probably damaging	Het
Zfp563	T	A	17: 33,324,383 (GRCm39)	I326N	probably benign	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
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