Incidental Mutation 'R7885:Mlc1'
ID 609033
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 045937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 88840087-88863192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88862107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 36 (D36E)
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: D30E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: D30E

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 probably benign
Transcript: ENSMUST00000109368
AA Change: D36E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: D36E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bin1 G A 18: 32,552,896 (GRCm39) A174T probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Cst3 A G 2: 148,714,741 (GRCm39) M112T probably benign Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrmda A G 14: 22,648,388 (GRCm39) T73A unknown Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Ncoa1 A G 12: 4,389,044 (GRCm39) I77T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rint1 A G 5: 24,010,642 (GRCm39) S255G probably benign Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign Het
Other mutations in Mlc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CCAGTCTATCGGGCTTTGTG -3'
(R):5'- GTCAAAGTCCATGATGATTTCACTGC -3'

Sequencing Primer
(F):5'- TTGTGCTCTACAGGGCATGACC -3'
(R):5'- CCATGATGATTTCACTGCATAGGAGG -3'
Posted On 2019-12-20