Mutagenetix > Incidental Mutation

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

Kiaa0027-hp, WKL1

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

88840087-88863192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88850199 bp (GRCm39)

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
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	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
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
R4027:Mlc1	UTSW	15	88,850,697 (GRCm39)	missense	probably benign	0.29
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'- TTAGCATCACCAGTCCGATAC -3'
(R):5'- GTTGCAATGACTGGGCACATC -3'

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

Posted On

2015-02-05