Incidental Mutation 'R7746:Mlc1'
ID 596858
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 045802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7746 (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 A at 88848373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 262 (A262V)
Ref Sequence ENSEMBL: ENSMUSP00000104993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042594] [ENSMUST00000109368]
AlphaFold Q8VHK5
Predicted Effect probably damaging
Transcript: ENSMUST00000042594
AA Change: A256V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047667
Gene: ENSMUSG00000035805
AA Change: A256V

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 damaging
Transcript: ENSMUST00000109368
AA Change: A262V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104993
Gene: ENSMUSG00000035805
AA Change: A262V

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,559,339 (GRCm39) Q184L probably benign Het
9030624G23Rik T G 12: 24,124,674 (GRCm39) S68R possibly damaging Het
Acyp1 G T 12: 85,325,832 (GRCm39) R56S unknown Het
Angpt2 C T 8: 18,742,080 (GRCm39) R492Q probably damaging Het
Ankrd36 T C 11: 5,637,451 (GRCm39) L1340P possibly damaging Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
Bach1 G A 16: 87,526,521 (GRCm39) S661N probably benign Het
Bik T C 15: 83,425,535 (GRCm39) I12T possibly damaging Het
C3 C T 17: 57,525,859 (GRCm39) R841H probably damaging Het
Cacna1s G T 1: 135,996,756 (GRCm39) R119L probably damaging Het
Cic G A 7: 24,988,207 (GRCm39) V1632M probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Dchs2 A G 3: 83,035,364 (GRCm39) H37R possibly damaging Het
Dvl1 A G 4: 155,940,696 (GRCm39) I439V possibly damaging Het
Fat1 G A 8: 45,404,670 (GRCm39) D474N probably damaging Het
Foxs1 T A 2: 152,775,028 (GRCm39) E8D probably benign Het
Garnl3 T C 2: 32,882,269 (GRCm39) D822G probably damaging Het
Gm44501 C T 17: 40,889,720 (GRCm39) A78V possibly damaging Het
Gpr19 C A 6: 134,846,355 (GRCm39) A443S probably damaging Het
Helb T C 10: 119,931,007 (GRCm39) R729G probably null Het
Lnpep G T 17: 17,758,824 (GRCm39) T840K probably benign Het
Mctp2 T C 7: 71,835,544 (GRCm39) N551S probably benign Het
Mgam T G 6: 40,645,127 (GRCm39) F635V probably damaging Het
Msantd5f9 C T 4: 73,838,099 (GRCm39) S29N possibly damaging Het
Muc5b A G 7: 141,415,976 (GRCm39) Y2974C probably benign Het
Nprl3 A T 11: 32,198,150 (GRCm39) Y208* probably null Het
Or2n1d C T 17: 38,646,285 (GRCm39) P79L probably benign Het
Or8k40 A T 2: 86,584,437 (GRCm39) L215Q probably damaging Het
Pkn2 A G 3: 142,499,868 (GRCm39) F915S probably damaging Het
Pkn3 G A 2: 29,980,596 (GRCm39) C829Y probably benign Het
Polr1a C T 6: 71,918,496 (GRCm39) P685S probably damaging Het
Ppp4r3b A G 11: 29,123,352 (GRCm39) D16G probably benign Het
Ppwd1 C T 13: 104,353,714 (GRCm39) R348H probably damaging Het
Pxdc1 T C 13: 34,823,046 (GRCm39) T98A probably benign Het
Rhbdl1 T C 17: 26,055,167 (GRCm39) I68V probably benign Het
Ror2 A G 13: 53,271,261 (GRCm39) C365R probably damaging Het
Samd4b A T 7: 28,103,328 (GRCm39) H43Q probably damaging Het
Sbf2 A T 7: 110,040,633 (GRCm39) V398D probably benign Het
Sbno2 T C 10: 79,894,708 (GRCm39) I1012M probably damaging Het
Serpinb9h A T 13: 33,581,841 (GRCm39) I133L probably damaging Het
Strn T C 17: 78,984,801 (GRCm39) T281A probably benign Het
Syt4 T A 18: 31,577,318 (GRCm39) D12V probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem45a A G 16: 56,646,100 (GRCm39) L40P probably damaging Het
Tnn G A 1: 159,942,255 (GRCm39) P1081L probably damaging Het
Unc80 T C 1: 66,716,544 (GRCm39) V2888A 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
R7885:Mlc1 UTSW 15 88,862,107 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GACTTGCAAACCTAGTGTTCGG -3'
(R):5'- GCAGCTACCAAACCTGTGAG -3'

Sequencing Primer
(F):5'- TTCAGAAACATCTTGGCCACTGG -3'
(R):5'- CCTGTGAGAGGCTGTCATGAGC -3'
Posted On 2019-11-26