Incidental Mutation 'IGL01928:Mfsd12'
ID180363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd12
Ensembl Gene ENSMUSG00000034854
Gene Namemajor facilitator superfamily domain containing 12
SynonymsWdt1, F630110N24Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.612) question?
Stock #IGL01928
Quality Score
Status
Chromosome10
Chromosomal Location81357491-81366225 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 81365788 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020456] [ENSMUST00000020457] [ENSMUST00000044844] [ENSMUST00000118812] [ENSMUST00000132368] [ENSMUST00000140901]
Predicted Effect probably benign
Transcript: ENSMUST00000020456
SMART Domains Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234

DomainStartEndE-ValueType
Pfam:DUF4531 23 204 1.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020457
SMART Domains Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235

DomainStartEndE-ValueType
Blast:WD40 172 213 8e-21 BLAST
WD40 218 257 1.2e-2 SMART
WD40 260 297 6.79e-2 SMART
WD40 302 341 3.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044844
SMART Domains Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:MFS_2 20 423 5.2e-43 PFAM
Pfam:MFS_1 154 416 6.8e-12 PFAM
transmembrane domain 441 463 N/A INTRINSIC
low complexity region 464 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118812
SMART Domains Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235

DomainStartEndE-ValueType
WD40 129 168 5.6e-3 SMART
WD40 171 208 6.79e-2 SMART
WD40 213 252 3.99e-8 SMART
WD40 255 297 2.84e-4 SMART
WD40 300 340 1.98e1 SMART
WD40 343 382 1.11e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130762
Predicted Effect probably benign
Transcript: ENSMUST00000131736
SMART Domains Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234

DomainStartEndE-ValueType
Pfam:DUF4531 1 128 2.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132368
SMART Domains Protein: ENSMUSP00000120259
Gene: ENSMUSG00000034854

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:MFS_2 20 102 3.7e-11 PFAM
low complexity region 118 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138343
Predicted Effect probably benign
Transcript: ENSMUST00000140901
SMART Domains Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235

DomainStartEndE-ValueType
Blast:WD40 172 213 1e-19 BLAST
WD40 218 257 1.2e-2 SMART
WD40 260 297 6.79e-2 SMART
WD40 302 341 3.99e-8 SMART
WD40 344 386 2.84e-4 SMART
WD40 389 429 1.98e1 SMART
WD40 432 471 1.11e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150824
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit a grey (grizzled) coat. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Mfsd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01556:Mfsd12 APN 10 81363024 missense probably damaging 0.98
P0038:Mfsd12 UTSW 10 81362218 missense probably benign 0.02
R0048:Mfsd12 UTSW 10 81362814 missense possibly damaging 0.77
R0048:Mfsd12 UTSW 10 81362814 missense possibly damaging 0.77
R0152:Mfsd12 UTSW 10 81357799 missense probably damaging 1.00
R0317:Mfsd12 UTSW 10 81357799 missense probably damaging 1.00
R0565:Mfsd12 UTSW 10 81361409 missense probably benign 0.00
R1283:Mfsd12 UTSW 10 81361435 missense probably benign 0.00
R1927:Mfsd12 UTSW 10 81362087 missense probably benign 0.15
R1983:Mfsd12 UTSW 10 81362256 unclassified probably null
R1994:Mfsd12 UTSW 10 81357681 missense probably damaging 1.00
R1995:Mfsd12 UTSW 10 81357681 missense probably damaging 1.00
R2055:Mfsd12 UTSW 10 81360229 missense probably damaging 1.00
R2197:Mfsd12 UTSW 10 81357734 missense probably damaging 1.00
R3120:Mfsd12 UTSW 10 81361215 missense probably benign 0.00
R4162:Mfsd12 UTSW 10 81361097 critical splice acceptor site probably null
R4163:Mfsd12 UTSW 10 81361097 critical splice acceptor site probably null
R4417:Mfsd12 UTSW 10 81364703 unclassified probably benign
R5622:Mfsd12 UTSW 10 81363627 missense probably null 0.98
R6407:Mfsd12 UTSW 10 81362233 unclassified probably null
R7759:Mfsd12 UTSW 10 81363593 missense probably benign 0.10
R7780:Mfsd12 UTSW 10 81357884 missense probably benign 0.19
Posted On2014-05-07