Incidental Mutation 'IGL03251:Mlc1'
ID414933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlc1
Ensembl Gene ENSMUSG00000035805
Gene Namemegalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
SynonymsWKL1, Kiaa0027-hp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03251
Quality Score
Status
Chromosome15
Chromosomal Location88955884-88979007 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88974731 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 117 (V117D)
Ref Sequence ENSEMBL: ENSMUSP00000104993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042594] [ENSMUST00000109368]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042594
AA Change: V111D

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: V111D

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000109368
AA Change: V117D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: V117D

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Ei24 A G 9: 36,780,109 *359R probably null Het
Elk3 A T 10: 93,254,821 probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Rrm1 T C 7: 102,457,206 F311L probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Tube1 T A 10: 39,134,981 probably benign Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 probably benign Het
Other mutations in Mlc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Mlc1 APN 15 88974718 splice site probably benign
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
R4697:Mlc1 UTSW 15 88974777 missense probably damaging 1.00
R4728:Mlc1 UTSW 15 88978031 intron 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
R7968:Mlc1 UTSW 15 88977904 missense probably benign 0.01
Posted On2016-08-02