Incidental Mutation 'IGL02985:Mfsd13b'
ID406682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd13b
Ensembl Gene ENSMUSG00000030877
Gene Namemajor facilitator superfamily domain containing 13B
Synonyms4933427G17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #IGL02985
Quality Score
Status
Chromosome7
Chromosomal Location120982509-121014787 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121000172 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 397 (I397K)
Ref Sequence ENSEMBL: ENSMUSP00000150654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000216241]
Predicted Effect probably damaging
Transcript: ENSMUST00000033166
AA Change: I397K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: I397K

DomainStartEndE-ValueType
Pfam:MFS_2 9 439 5.1e-18 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133939
AA Change: I107K
SMART Domains Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877
AA Change: I107K

DomainStartEndE-ValueType
transmembrane domain 48 67 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216241
AA Change: I397K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Mfsd13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Mfsd13b APN 7 120998909 missense probably damaging 1.00
R1159:Mfsd13b UTSW 7 121014543 missense probably damaging 0.98
R2041:Mfsd13b UTSW 7 120991916 splice site probably benign
R2080:Mfsd13b UTSW 7 120991824 missense probably null
R4762:Mfsd13b UTSW 7 120991326 missense probably damaging 1.00
R4885:Mfsd13b UTSW 7 120991488 missense possibly damaging 0.80
R5082:Mfsd13b UTSW 7 120998978 missense possibly damaging 0.94
R5282:Mfsd13b UTSW 7 120991833 missense probably damaging 0.98
R5296:Mfsd13b UTSW 7 120991738 missense probably damaging 1.00
R5411:Mfsd13b UTSW 7 121000123 missense probably benign 0.03
R6563:Mfsd13b UTSW 7 120995467 missense probably damaging 0.99
R7347:Mfsd13b UTSW 7 120991728 missense probably benign 0.44
Z1176:Mfsd13b UTSW 7 120991677 missense probably benign 0.10
Posted On2016-08-02