Incidental Mutation 'R6649:Mfsd13a'
ID 527718
Institutional Source Beutler Lab
Gene Symbol Mfsd13a
Ensembl Gene ENSMUSG00000025227
Gene Name major facilitator superfamily domain containing 13a
Synonyms 4930538D17Rik, 4930449A08Rik, Tmem180
MMRRC Submission 044770-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R6649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 46345315-46363693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46356305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 137 (F137L)
Ref Sequence ENSEMBL: ENSMUSP00000119072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000128455] [ENSMUST00000142994]
AlphaFold Q6PDE8
Predicted Effect probably damaging
Transcript: ENSMUST00000086969
AA Change: F137L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: F137L

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: F137L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: F137L

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: F137L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: F137L

DomainStartEndE-ValueType
Pfam:MFS_2 8 318 7.8e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,800,941 (GRCm39) H627Q probably benign Het
Abra G A 15: 41,732,629 (GRCm39) L146F probably benign Het
Adamts7 T C 9: 90,073,990 (GRCm39) C857R probably damaging Het
Ankhd1 A T 18: 36,733,836 (GRCm39) probably null Het
Asb15 A G 6: 24,562,632 (GRCm39) N198S probably benign Het
Asb16 A T 11: 102,159,863 (GRCm39) Q72L possibly damaging Het
Atosa T G 9: 74,917,432 (GRCm39) L677R probably damaging Het
Bbox1 G T 2: 110,135,914 (GRCm39) H22N probably benign Het
Bcdin3d T C 15: 99,368,696 (GRCm39) T168A probably damaging Het
Bmp1 A T 14: 70,728,058 (GRCm39) W624R probably damaging Het
Cdh18 A T 15: 23,436,620 (GRCm39) Y492F possibly damaging Het
Cep290 A C 10: 100,354,393 (GRCm39) D848A probably benign Het
Cip2a A T 16: 48,837,829 (GRCm39) Q843L probably damaging Het
Cmya5 G C 13: 93,234,533 (GRCm39) S185C possibly damaging Het
Cops9 C T 1: 92,568,136 (GRCm39) probably benign Het
Cutal C T 2: 34,775,933 (GRCm39) T88I probably benign Het
Dlg4 G T 11: 69,914,779 (GRCm39) probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Erp44 T C 4: 48,205,130 (GRCm39) I288V probably null Het
Fat3 T C 9: 16,288,038 (GRCm39) D495G probably damaging Het
Fsip2 T C 2: 82,798,161 (GRCm39) V485A possibly damaging Het
Gm14496 A T 2: 181,639,269 (GRCm39) H453L possibly damaging Het
Gm17027 T C 14: 41,981,236 (GRCm39) T207A unknown Het
Gm6902 T G 7: 22,973,159 (GRCm39) T123P possibly damaging Het
Gpat2 T G 2: 127,274,355 (GRCm39) W366G possibly damaging Het
Heatr6 A T 11: 83,650,191 (GRCm39) T216S probably benign Het
Hsd17b14 T C 7: 45,205,500 (GRCm39) V11A probably damaging Het
Jak2 T A 19: 29,266,110 (GRCm39) I517N probably benign Het
Kmt5b G A 19: 3,857,295 (GRCm39) G351R probably damaging Het
Mau2 G T 8: 70,484,166 (GRCm39) Q141K possibly damaging Het
Mfsd14b A T 13: 65,214,599 (GRCm39) I451N probably damaging Het
Milr1 C T 11: 106,648,537 (GRCm39) H143Y probably benign Het
Mon2 T G 10: 122,874,385 (GRCm39) K321T possibly damaging Het
Nlrp9c T A 7: 26,070,747 (GRCm39) N945Y probably damaging Het
Nwd2 A G 5: 63,882,527 (GRCm39) R60G possibly damaging Het
Or2z2 A T 11: 58,346,394 (GRCm39) I127N probably damaging Het
Or52b2 T C 7: 104,986,914 (GRCm39) H3R probably benign Het
Or8g20 A G 9: 39,396,048 (GRCm39) V164A probably benign Het
Papola A T 12: 105,778,566 (GRCm39) I315L possibly damaging Het
Phf3 A T 1: 30,844,104 (GRCm39) S1618R possibly damaging Het
Phyhipl A G 10: 70,404,843 (GRCm39) F77L probably damaging Het
Ppp3cb A G 14: 20,581,094 (GRCm39) L110P probably damaging Het
Prss53 T G 7: 127,485,747 (GRCm39) E531A probably benign Het
Raf1 A T 6: 115,608,302 (GRCm39) H236Q probably benign Het
Ryr2 A G 13: 11,610,529 (GRCm39) V4099A probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2b T C 11: 32,365,978 (GRCm39) probably null Het
Slco6c1 C T 1: 97,053,436 (GRCm39) S155N probably benign Het
Speer4f2 A G 5: 17,580,767 (GRCm39) T115A probably benign Het
Spry1 T C 3: 37,696,871 (GRCm39) I38T probably damaging Het
Tagap T C 17: 8,152,546 (GRCm39) V577A probably benign Het
Ubr4 C A 4: 139,200,935 (GRCm39) H4706Q possibly damaging Het
Vmn2r112 T A 17: 22,820,160 (GRCm39) L11Q probably null Het
Zfp60 T C 7: 27,448,151 (GRCm39) F273S probably benign Het
Zfp938 A T 10: 82,061,232 (GRCm39) Y463N 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
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
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'- CCTGCCCTGGTGTAAAGGTTAC -3'
(R):5'- GCAGCTAGTACCACACAGAAGG -3'

Sequencing Primer
(F):5'- CTGGTGTAAAGGTTACCTCCTAACAC -3'
(R):5'- TAGTACCACACAGAAGGCACGG -3'
Posted On 2018-07-23