Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Mlc1'

386442

Institutional Source

Beutler Lab

Gene Symbol

Mlc1

Ensembl Gene

ENSMUSG00000035805

Gene Name

megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)

Synonyms

WKL1, Kiaa0027-hp

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

88955884-88979007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88974777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 102 (C102R)

Ref Sequence

ENSEMBL: ENSMUSP00000104993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042594] [ENSMUST00000109368]

AlphaFold

Q8VHK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000042594
AA Change: C96R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: C96R

Domain	Start	End	E-Value	Type
transmembrane domain	57	79	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	266	288	N/A	INTRINSIC
transmembrane domain	308	330	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109368
AA Change: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: C102R

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
transmembrane domain	154	176	N/A	INTRINSIC
transmembrane domain	209	231	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
transmembrane domain	272	294	N/A	INTRINSIC
transmembrane domain	314	336	N/A	INTRINSIC

Meta Mutation Damage Score

0.3232

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	Het

Other mutations in Mlc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Mlc1	APN	15	88974718	splice site	probably benign
IGL03251:Mlc1	APN	15	88974731	missense	possibly damaging	0.88
R0710:Mlc1	UTSW	15	88977864	missense	possibly damaging	0.88
R1037:Mlc1	UTSW	15	88965461	missense	probably damaging	1.00
R1573:Mlc1	UTSW	15	88958147	missense	probably damaging	1.00
R1994:Mlc1	UTSW	15	88974579	missense	possibly damaging	0.50
R2121:Mlc1	UTSW	15	88963431	missense	probably benign	0.22
R2302:Mlc1	UTSW	15	88965437	missense	possibly damaging	0.63
R3110:Mlc1	UTSW	15	88965996	missense	probably benign	0.00
R3112:Mlc1	UTSW	15	88965996	missense	probably benign	0.00
R3117:Mlc1	UTSW	15	88976528	missense	probably damaging	1.00
R4027:Mlc1	UTSW	15	88966494	missense	probably benign	0.29
R4450:Mlc1	UTSW	15	88963490	missense	probably benign	0.19
R4576:Mlc1	UTSW	15	88974537	missense	probably damaging	1.00
R4728:Mlc1	UTSW	15	88978031	splice site	probably null
R4910:Mlc1	UTSW	15	88958212	missense	possibly damaging	0.94
R5618:Mlc1	UTSW	15	88974566	missense	probably damaging	1.00
R7528:Mlc1	UTSW	15	88974507	missense	possibly damaging	0.95
R7746:Mlc1	UTSW	15	88964170	missense	probably damaging	0.99
R7885:Mlc1	UTSW	15	88977904	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCACAGCGAACGTGGAAAC -3'
(R):5'- GAAGCTTGAACATTGCAACACATG -3'

Sequencing Primer
(F):5'- CAATATCTGAAAGTTGGGAATCTGG -3'
(R):5'- GAACATTGCAACACATGATTGTC -3'

Posted On

2016-06-01