Mutagenetix > Incidental Mutations

Incidental Mutation 'R3110:Mlc1'

263848

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

040584-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

88955884-88979007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88965996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 192 (D192E)

Ref Sequence

ENSEMBL: ENSMUSP00000104993 (fasta)

Gene Model

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

AlphaFold

Q8VHK5

Predicted Effect

probably benign
Transcript: ENSMUST00000042594
AA Change: D186E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: D186E

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 benign
Transcript: ENSMUST00000109368
AA Change: D192E

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

SMART Domains

Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: D192E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	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
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
R4697:Mlc1	UTSW	15	88974777	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'- TTAGCATCACCAGTCCGATAC -3'
(R):5'- GTTGCAATGACTGGGCACATC -3'

Sequencing Primer
(F):5'- TCACCAGTCCGATACAGTGATG -3'
(R):5'- CCACTCACAGGGGAAATGTCTG -3'

Posted On

2015-02-05