Incidental Mutation 'IGL01621:Mfsd4a'
ID 92612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd4a
Ensembl Gene ENSMUSG00000059149
Gene Name major facilitator superfamily domain containing 4A
Synonyms A930031D07Rik, Mfsd4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01621
Quality Score
Status
Chromosome 1
Chromosomal Location 131950544-131995800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131981881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
Ref Sequence ENSEMBL: ENSMUSP00000125138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046658] [ENSMUST00000112365] [ENSMUST00000112370] [ENSMUST00000126927] [ENSMUST00000144548] [ENSMUST00000146267] [ENSMUST00000159038] [ENSMUST00000161864] [ENSMUST00000160656]
AlphaFold Q6PDC8
Predicted Effect probably benign
Transcript: ENSMUST00000046658
SMART Domains Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 55 74 N/A INTRINSIC
transmembrane domain 81 99 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 218 240 N/A INTRINSIC
transmembrane domain 245 267 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
transmembrane domain 309 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112365
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: S255P

DomainStartEndE-ValueType
Pfam:MFS_1 21 430 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112370
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: S255P

DomainStartEndE-ValueType
Pfam:MFS_1 21 405 1.1e-11 PFAM
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126927
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: S255P

DomainStartEndE-ValueType
Pfam:MFS_1 21 405 1.1e-11 PFAM
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144548
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: S255P

DomainStartEndE-ValueType
Pfam:MFS_1 21 396 4.2e-12 PFAM
transmembrane domain 398 420 N/A INTRINSIC
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146267
SMART Domains Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 55 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159038
AA Change: S255P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: S255P

DomainStartEndE-ValueType
Pfam:MFS_1 20 395 6.8e-12 PFAM
transmembrane domain 398 420 N/A INTRINSIC
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161864
AA Change: S171P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: S171P

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
transmembrane domain 55 74 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
transmembrane domain 107 126 N/A INTRINSIC
Pfam:MFS_1 218 420 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160656
AA Change: S149P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: S149P

DomainStartEndE-ValueType
transmembrane domain 2 20 N/A INTRINSIC
transmembrane domain 30 52 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 85 104 N/A INTRINSIC
transmembrane domain 196 218 N/A INTRINSIC
transmembrane domain 238 257 N/A INTRINSIC
transmembrane domain 269 288 N/A INTRINSIC
transmembrane domain 292 314 N/A INTRINSIC
transmembrane domain 327 349 N/A INTRINSIC
transmembrane domain 354 376 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162628
AA Change: S12P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181695
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Mfsd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Mfsd4a APN 1 131,968,332 (GRCm39) missense probably benign 0.34
IGL01348:Mfsd4a APN 1 131,995,564 (GRCm39) missense probably null 0.96
IGL01934:Mfsd4a APN 1 131,974,049 (GRCm39) missense probably damaging 1.00
IGL02429:Mfsd4a APN 1 131,956,237 (GRCm39) missense probably benign
R0362:Mfsd4a UTSW 1 131,987,013 (GRCm39) missense probably damaging 1.00
R0551:Mfsd4a UTSW 1 131,969,657 (GRCm39) missense probably damaging 1.00
R1435:Mfsd4a UTSW 1 131,995,494 (GRCm39) missense probably damaging 1.00
R1566:Mfsd4a UTSW 1 131,986,917 (GRCm39) missense probably damaging 1.00
R1739:Mfsd4a UTSW 1 131,995,621 (GRCm39) missense possibly damaging 0.85
R1793:Mfsd4a UTSW 1 131,987,077 (GRCm39) missense probably damaging 0.98
R1799:Mfsd4a UTSW 1 131,981,334 (GRCm39) missense possibly damaging 0.63
R2244:Mfsd4a UTSW 1 131,956,243 (GRCm39) missense probably benign 0.09
R3870:Mfsd4a UTSW 1 131,974,091 (GRCm39) missense probably damaging 0.99
R4177:Mfsd4a UTSW 1 131,968,295 (GRCm39) missense probably damaging 0.99
R4330:Mfsd4a UTSW 1 131,981,291 (GRCm39) missense possibly damaging 0.71
R4705:Mfsd4a UTSW 1 131,981,309 (GRCm39) missense probably damaging 1.00
R4717:Mfsd4a UTSW 1 131,985,633 (GRCm39) missense probably benign 0.00
R5886:Mfsd4a UTSW 1 131,995,465 (GRCm39) missense probably damaging 0.96
R5890:Mfsd4a UTSW 1 131,966,666 (GRCm39) missense probably damaging 1.00
R7092:Mfsd4a UTSW 1 131,995,401 (GRCm39) missense probably benign 0.06
R7189:Mfsd4a UTSW 1 131,980,131 (GRCm39) missense probably damaging 1.00
R8675:Mfsd4a UTSW 1 131,986,926 (GRCm39) missense probably damaging 1.00
R9668:Mfsd4a UTSW 1 131,969,628 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09