Incidental Mutation 'R4920:Mfsd13a'
ID 378537
Institutional Source Beutler Lab
Gene Symbol Mfsd13a
Ensembl Gene ENSMUSG00000025227
Gene Name major facilitator superfamily domain containing 13a
Synonyms 4930538D17Rik, 4930449A08Rik, Tmem180
MMRRC Submission 042522-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4920 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46345315-46363693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 46355655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 59 (F59V)
Ref Sequence ENSEMBL: ENSMUSP00000122944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000128455] [ENSMUST00000142994]
AlphaFold Q6PDE8
Predicted Effect probably damaging
Transcript: ENSMUST00000086969
AA Change: F59V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: F59V

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 damaging
Transcript: ENSMUST00000128041
AA Change: F59V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: F59V

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 probably benign
Transcript: ENSMUST00000128455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137143
Predicted Effect probably damaging
Transcript: ENSMUST00000142994
AA Change: F59V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: F59V

DomainStartEndE-ValueType
Pfam:MFS_2 8 318 7.8e-17 PFAM
Meta Mutation Damage Score 0.7139 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A T 11: 114,089,871 (GRCm39) noncoding transcript Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Apbb1ip A G 2: 22,709,696 (GRCm39) D51G unknown Het
Bmal1 A G 7: 112,884,321 (GRCm39) T120A probably damaging Het
Brca1 A T 11: 101,415,785 (GRCm39) V783D probably damaging Het
Ccdc141 T C 2: 76,998,907 (GRCm39) D58G probably damaging Het
Ccr9 G T 9: 123,608,504 (GRCm39) G62V probably damaging Het
Ces2b T C 8: 105,563,538 (GRCm39) Y422H probably benign Het
Cpa4 T C 6: 30,568,462 (GRCm39) probably null Het
Dennd3 A G 15: 73,412,574 (GRCm39) H412R probably benign Het
Dpy19l3 A T 7: 35,407,467 (GRCm39) probably benign Het
Dtwd2 G T 18: 49,831,507 (GRCm39) R167S possibly damaging Het
Dync1i2 G A 2: 71,077,668 (GRCm39) R243Q probably damaging Het
Ear2 G A 14: 44,340,582 (GRCm39) G80E probably damaging Het
Fam171b A G 2: 83,710,703 (GRCm39) K792E possibly damaging Het
Fam83b G A 9: 76,399,150 (GRCm39) T651I probably benign Het
Fcrl5 T G 3: 87,351,480 (GRCm39) F243V probably damaging Het
Galntl6 T C 8: 58,880,807 (GRCm39) I115M probably damaging Het
Glrx3 A G 7: 137,065,859 (GRCm39) D163G probably null Het
Gm14488 A T 2: 30,605,044 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,666,725 (GRCm39) S683P probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Gsdmd T C 15: 75,736,206 (GRCm39) S112P probably damaging Het
Ighv14-3 A G 12: 114,023,877 (GRCm39) V6A probably benign Het
Lca5l T A 16: 95,980,035 (GRCm39) S32C probably damaging Het
Lrba T A 3: 86,571,765 (GRCm39) Y260* probably null Het
Lyst T C 13: 13,821,645 (GRCm39) S1340P possibly damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Noa1 T C 5: 77,454,334 (GRCm39) probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Pgm1 C T 4: 99,843,930 (GRCm39) T571M probably damaging Het
Pramel23 T C 4: 143,425,853 (GRCm39) D30G probably benign Het
Rfc1 C A 5: 65,445,271 (GRCm39) V460F probably damaging Het
Rrn3 A G 16: 13,608,503 (GRCm39) D182G probably benign Het
Sap25 T A 5: 137,640,507 (GRCm39) probably benign Het
Slc9a2 A G 1: 40,794,878 (GRCm39) I480V probably benign Het
Smo T C 6: 29,759,593 (GRCm39) S642P probably damaging Het
Tbc1d22a A C 15: 86,195,949 (GRCm39) I307L probably benign Het
Tent2 G A 13: 93,322,833 (GRCm39) Q39* probably null Het
Ubr3 A G 2: 69,783,212 (GRCm39) Q716R probably benign Het
Vmn2r96 A G 17: 18,802,918 (GRCm39) E276G probably benign Het
Zfp189 G A 4: 49,529,302 (GRCm39) C135Y probably 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
R1174:Mfsd13a UTSW 19 46,363,125 (GRCm39) missense probably benign 0.13
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
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 PCR Primer
(F):5'- TGGATACACTTAGCGGCTGC -3'
(R):5'- CCATGTCACACTAGGGTCAAC -3'

Sequencing Primer
(F):5'- CCGTGGGTCGCTGGAGTC -3'
(R):5'- TGCCCCTACCACAACTGGG -3'
Posted On 2016-04-15