Incidental Mutation 'R1174:Mfsd13a'
ID 99867
Institutional Source Beutler Lab
Gene Symbol Mfsd13a
Ensembl Gene ENSMUSG00000025227
Gene Name major facilitator superfamily domain containing 13a
Synonyms 4930538D17Rik, 4930449A08Rik, Tmem180
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R1174 (G1)
Quality Score 177
Status Not validated
Chromosome 19
Chromosomal Location 46345315-46363693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46363125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 511 (I511N)
Ref Sequence ENSEMBL: ENSMUSP00000119072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040270] [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000142994]
AlphaFold Q6PDE8
Predicted Effect probably benign
Transcript: ENSMUST00000040270
SMART Domains Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228

DomainStartEndE-ValueType
ACTIN 9 376 4.18e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086969
AA Change: I511N

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: I511N

DomainStartEndE-ValueType
Pfam:MFS_2 15 441 6.2e-23 PFAM
low complexity region 453 463 N/A INTRINSIC
transmembrane domain 470 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128041
AA Change: I511N

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: I511N

DomainStartEndE-ValueType
Pfam:MFS_2 9 441 1.1e-26 PFAM
low complexity region 453 463 N/A INTRINSIC
transmembrane domain 470 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137143
Predicted Effect probably benign
Transcript: ENSMUST00000142994
SMART Domains Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227

DomainStartEndE-ValueType
Pfam:MFS_2 8 318 7.8e-17 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Mfsd13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Mfsd13a APN 19 46,354,958 (GRCm39) missense probably damaging 1.00
IGL01380:Mfsd13a APN 19 46,356,347 (GRCm39) missense probably damaging 1.00
IGL01773:Mfsd13a APN 19 46,357,733 (GRCm39) missense possibly damaging 0.60
IGL02458:Mfsd13a APN 19 46,360,686 (GRCm39) missense probably damaging 1.00
IGL02955:Mfsd13a APN 19 46,356,192 (GRCm39) missense possibly damaging 0.81
R0057:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R0113:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R0114:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R0115:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R0361:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R0656:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1210:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1251:Mfsd13a UTSW 19 46,360,492 (GRCm39) missense probably damaging 1.00
R1364:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1365:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1366:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1367:Mfsd13a UTSW 19 46,354,943 (GRCm39) missense probably benign 0.22
R1692:Mfsd13a UTSW 19 46,360,515 (GRCm39) missense probably benign 0.00
R1852:Mfsd13a UTSW 19 46,360,619 (GRCm39) critical splice acceptor site probably null
R1968:Mfsd13a UTSW 19 46,360,492 (GRCm39) missense probably damaging 1.00
R2846:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R2985:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R3415:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R3416:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R3431:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R3432:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R3735:Mfsd13a UTSW 19 46,356,767 (GRCm39) missense probably damaging 1.00
R4393:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R4394:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R4396:Mfsd13a UTSW 19 46,360,431 (GRCm39) missense probably damaging 1.00
R4920:Mfsd13a UTSW 19 46,355,655 (GRCm39) missense probably damaging 1.00
R5289:Mfsd13a UTSW 19 46,356,719 (GRCm39) missense probably benign 0.00
R5806:Mfsd13a UTSW 19 46,354,849 (GRCm39) missense probably benign 0.01
R6153:Mfsd13a UTSW 19 46,356,321 (GRCm39) missense probably damaging 1.00
R6514:Mfsd13a UTSW 19 46,363,064 (GRCm39) splice site probably null
R6558:Mfsd13a UTSW 19 46,354,917 (GRCm39) missense probably damaging 1.00
R6649:Mfsd13a UTSW 19 46,360,704 (GRCm39) missense probably benign
R6649:Mfsd13a UTSW 19 46,356,305 (GRCm39) missense probably damaging 0.99
R6653:Mfsd13a UTSW 19 46,356,305 (GRCm39) missense probably damaging 0.99
R6911:Mfsd13a UTSW 19 46,357,716 (GRCm39) missense probably damaging 1.00
R7022:Mfsd13a UTSW 19 46,356,763 (GRCm39) nonsense probably null
R7334:Mfsd13a UTSW 19 46,356,809 (GRCm39) missense probably damaging 1.00
R7525:Mfsd13a UTSW 19 46,357,716 (GRCm39) missense probably damaging 1.00
R7976:Mfsd13a UTSW 19 46,360,446 (GRCm39) missense probably benign 0.03
R8696:Mfsd13a UTSW 19 46,356,557 (GRCm39) missense probably benign
R8771:Mfsd13a UTSW 19 46,360,668 (GRCm39) missense probably damaging 0.99
R8857:Mfsd13a UTSW 19 46,356,567 (GRCm39) missense probably benign 0.00
R9056:Mfsd13a UTSW 19 46,354,900 (GRCm39) missense probably benign 0.04
R9432:Mfsd13a UTSW 19 46,354,868 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2014-01-15