Incidental Mutation 'R1210:Mfsd13a'
ID 100674
Institutional Source Beutler Lab
Gene Symbol Mfsd13a
Ensembl Gene ENSMUSG00000025227
Gene Name major facilitator superfamily domain containing 13a
Synonyms 4930538D17Rik, 4930449A08Rik, Tmem180
MMRRC Submission 039279-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R1210 (G1)
Quality Score 125
Status Not validated
Chromosome 19
Chromosomal Location 46345315-46363693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46354943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 40 (T40I)
Ref Sequence ENSEMBL: ENSMUSP00000119072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000128455] [ENSMUST00000142994]
AlphaFold Q6PDE8
Predicted Effect probably benign
Transcript: ENSMUST00000086969
AA Change: T40I

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: T40I

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: T40I

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: T40I

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 benign
Transcript: ENSMUST00000142994
AA Change: T40I

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: T40I

DomainStartEndE-ValueType
Pfam:MFS_2 8 318 7.8e-17 PFAM
Meta Mutation Damage Score 0.0965 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 93.9%
  • 20x: 83.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Clec7a T C 6: 129,442,488 (GRCm39) I180V probably damaging Het
Csf3 A G 11: 98,593,303 (GRCm39) D140G probably damaging Het
Cwf19l2 T C 9: 3,430,810 (GRCm39) S381P probably benign Het
Eef1b2 A G 1: 63,216,432 (GRCm39) D21G probably damaging Het
Fam83a A T 15: 57,858,644 (GRCm39) Y228F possibly damaging Het
Gm5422 A G 10: 31,126,719 (GRCm39) noncoding transcript Het
Itga5 A G 15: 103,265,900 (GRCm39) V149A possibly damaging Het
Lrrfip1 A G 1: 91,042,915 (GRCm39) H440R probably benign Het
Mindy4 T A 6: 55,261,798 (GRCm39) L569H possibly damaging Het
Mme A G 3: 63,251,027 (GRCm39) K356R probably benign Het
Nfkb1 A G 3: 135,300,688 (GRCm39) I626T probably benign Het
Or2f1b T C 6: 42,739,601 (GRCm39) V205A possibly damaging Het
Or2t6 T C 14: 14,176,029 (GRCm38) T18A probably benign Het
Or4c100 G C 2: 88,356,620 (GRCm39) R231P possibly damaging Het
Or5k1b T C 16: 58,581,413 (GRCm39) N42S probably damaging Het
Rock2 T A 12: 17,015,470 (GRCm39) V789D probably damaging Het
Sav1 A G 12: 70,015,953 (GRCm39) Y282H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r89 T C 14: 51,692,427 (GRCm39) F77L probably benign Het
Vps50 G A 6: 3,594,884 (GRCm39) V816I 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
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 PCR Primer
(F):5'- GACTAATAGGCAACCGCAGAGCTAC -3'
(R):5'- TGCTAAACAGCACAGTCTGCCC -3'

Sequencing Primer
(F):5'- ccgcagagctacagacc -3'
(R):5'- GCACAGTCTGCCCAAAAG -3'
Posted On 2014-01-15