Mutagenetix > Incidental Mutation

Incidental Mutation 'R4027:Mlc1'

313061

Institutional Source

Beutler Lab

Gene Symbol

Mlc1

Ensembl Gene

ENSMUSG00000035805

Gene Name

megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)

Synonyms

Kiaa0027-hp, WKL1

MMRRC Submission

040850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4027 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

88840087-88863192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88850697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 154 (I154V)

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: I148V

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: I148V

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: I154V

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: I154V

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

0.3543

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	G	2: 35,270,408 (GRCm39)	F98L	probably damaging	Het
Adam26b	T	C	8: 43,973,409 (GRCm39)	N531S	probably benign	Het
Ahdc1	T	C	4: 132,791,476 (GRCm39)	S906P	possibly damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Ano10	A	G	9: 122,081,994 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,424,377 (GRCm39)		probably null	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Carmil1	T	A	13: 24,251,206 (GRCm39)		probably benign	Het
Ccl2	A	G	11: 81,927,885 (GRCm39)	R110G	probably benign	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cog6	A	C	3: 52,909,950 (GRCm39)	D267E	possibly damaging	Het
Cyp4f37	G	T	17: 32,850,646 (GRCm39)	E366D	probably benign	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dpep1	T	C	8: 123,920,892 (GRCm39)	V24A	probably benign	Het
Eefsec	T	C	6: 88,353,232 (GRCm39)	I48V	probably benign	Het
Elmo2	G	A	2: 165,136,169 (GRCm39)	Q195*	probably null	Het
Ephb3	A	G	16: 21,040,447 (GRCm39)	D561G	probably damaging	Het
Erich2	C	A	2: 70,343,134 (GRCm39)		probably benign	Het
Gatm	A	G	2: 122,427,927 (GRCm39)	V362A	probably damaging	Het
Gdf10	A	G	14: 33,654,572 (GRCm39)	M360V	probably damaging	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Hectd1	T	A	12: 51,849,219 (GRCm39)		probably null	Het
Insrr	A	G	3: 87,716,906 (GRCm39)	E682G	probably benign	Het
Itgax	A	G	7: 127,740,438 (GRCm39)	I742V	possibly damaging	Het
Kcnh1	T	C	1: 191,959,007 (GRCm39)	V187A	probably benign	Het
Kdm6b	G	T	11: 69,297,094 (GRCm39)	S419R	possibly damaging	Het
Kmt2a	A	T	9: 44,747,990 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,277,019 (GRCm39)		probably benign	Het
Lct	G	A	1: 128,212,918 (GRCm39)	R1912C	probably benign	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Mast3	A	G	8: 71,240,552 (GRCm39)	L279P	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,823,343 (GRCm39)	T306A	probably benign	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mknk1	T	A	4: 115,721,758 (GRCm39)	F101I	probably damaging	Het
Myo5b	T	C	18: 74,892,311 (GRCm39)	I1685T	possibly damaging	Het
Nacc2	T	A	2: 25,950,348 (GRCm39)	M463L	probably benign	Het
Nek11	A	C	9: 105,121,589 (GRCm39)	Y443*	probably null	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nova1	A	G	12: 46,863,801 (GRCm39)		probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Parp10	A	G	15: 76,125,354 (GRCm39)		probably null	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Plce1	T	C	19: 38,512,709 (GRCm39)	S3P	probably damaging	Het
Pnldc1	T	C	17: 13,109,666 (GRCm39)	D400G	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Prmt6	A	G	3: 110,157,257 (GRCm39)	I344T	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Ranbp17	C	T	11: 33,450,718 (GRCm39)	R73Q	possibly damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Tecpr1	C	A	5: 144,143,077 (GRCm39)	A735S	probably benign	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Vldlr	A	G	19: 27,215,713 (GRCm39)	T237A	probably benign	Het
Vmn1r74	C	A	7: 11,580,898 (GRCm39)	T66K	probably damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zmym1	C	T	4: 126,943,672 (GRCm39)	V239I	probably benign	Het
Zmym5	T	A	14: 57,035,268 (GRCm39)	T267S	probably benign	Het

Other mutations in Mlc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Mlc1	APN	15	88,858,921 (GRCm39)	splice site	probably benign
IGL03251:Mlc1	APN	15	88,858,934 (GRCm39)	missense	possibly damaging	0.88
R0710:Mlc1	UTSW	15	88,862,067 (GRCm39)	missense	possibly damaging	0.88
R1037:Mlc1	UTSW	15	88,849,664 (GRCm39)	missense	probably damaging	1.00
R1573:Mlc1	UTSW	15	88,842,350 (GRCm39)	missense	probably damaging	1.00
R1994:Mlc1	UTSW	15	88,858,782 (GRCm39)	missense	possibly damaging	0.50
R2121:Mlc1	UTSW	15	88,847,634 (GRCm39)	missense	probably benign	0.22
R2302:Mlc1	UTSW	15	88,849,640 (GRCm39)	missense	possibly damaging	0.63
R3110:Mlc1	UTSW	15	88,850,199 (GRCm39)	missense	probably benign	0.00
R3112:Mlc1	UTSW	15	88,850,199 (GRCm39)	missense	probably benign	0.00
R3117:Mlc1	UTSW	15	88,860,731 (GRCm39)	missense	probably damaging	1.00
R4450:Mlc1	UTSW	15	88,847,693 (GRCm39)	missense	probably benign	0.19
R4576:Mlc1	UTSW	15	88,858,740 (GRCm39)	missense	probably damaging	1.00
R4697:Mlc1	UTSW	15	88,858,980 (GRCm39)	missense	probably damaging	1.00
R4728:Mlc1	UTSW	15	88,862,234 (GRCm39)	splice site	probably null
R4910:Mlc1	UTSW	15	88,842,415 (GRCm39)	missense	possibly damaging	0.94
R5618:Mlc1	UTSW	15	88,858,769 (GRCm39)	missense	probably damaging	1.00
R7528:Mlc1	UTSW	15	88,858,710 (GRCm39)	missense	possibly damaging	0.95
R7746:Mlc1	UTSW	15	88,848,373 (GRCm39)	missense	probably damaging	0.99
R7885:Mlc1	UTSW	15	88,862,107 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTAACAGTCCCTCAGCCCTG -3'
(R):5'- GGCAGTGTGATGGCATGA -3'

Sequencing Primer
(F):5'- CTCAGCCCTGCCAGCCC -3'
(R):5'- GACTAGGCCACCTTCTGATACATATG -3'

Posted On

2015-04-30