Incidental Mutation 'R6426:Mfsd4b1'
ID 518329
Institutional Source Beutler Lab
Gene Symbol Mfsd4b1
Ensembl Gene ENSMUSG00000038522
Gene Name major facilitator superfamily domain containing 4B1
Synonyms AI317395
MMRRC Submission 044565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6426 (G1)
Quality Score 174.009
Status Validated
Chromosome 10
Chromosomal Location 39877571-39901264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39882073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 71 (T71A)
Ref Sequence ENSEMBL: ENSMUSP00000128324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163705]
AlphaFold Q8VCV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000163705
AA Change: T71A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128324
Gene: ENSMUSG00000038522
AA Change: T71A

DomainStartEndE-ValueType
Pfam:MFS_1 1 369 1.9e-15 PFAM
transmembrane domain 382 404 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214611
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.5%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Adcyap1r1 T G 6: 55,471,172 (GRCm39) L365R probably damaging Het
Adgre4 A G 17: 56,109,196 (GRCm39) N401S probably benign Het
Adgrl3 A T 5: 81,874,717 (GRCm39) S1073C probably damaging Het
Bicral G A 17: 47,141,005 (GRCm39) P26S probably benign Het
Cst3 G T 2: 148,713,917 (GRCm39) T129K probably benign Het
Cyp26a1 T C 19: 37,687,753 (GRCm39) M287T probably benign Het
Daam2 C T 17: 49,776,404 (GRCm39) E828K probably damaging Het
Dmxl1 T C 18: 49,997,645 (GRCm39) V611A probably damaging Het
Fam149a C A 8: 45,834,611 (GRCm39) A63S probably benign Het
Fhip2a T G 19: 57,371,610 (GRCm39) L574R probably damaging Het
Foxred2 C G 15: 77,837,508 (GRCm39) A243P probably damaging Het
Gm3604 A T 13: 62,517,436 (GRCm39) D307E probably damaging Het
Lca5 G A 9: 83,277,707 (GRCm39) Q546* probably null Het
Onecut1 A G 9: 74,769,631 (GRCm39) H18R probably damaging Het
Or5a1 A G 19: 12,097,212 (GRCm39) V288A probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Pcsk5 G T 19: 17,595,093 (GRCm39) Q414K probably damaging Het
Ppp4r2 T C 6: 100,829,558 (GRCm39) Y77H probably damaging Het
Prr19 A G 7: 25,003,262 (GRCm39) D292G probably damaging Het
Pum1 G A 4: 130,481,283 (GRCm39) R464H probably damaging Het
Rhoq G T 17: 87,302,442 (GRCm39) R126L probably damaging Het
Sdhb A G 4: 140,701,029 (GRCm39) K162E probably benign Het
Sema3d G A 5: 12,613,231 (GRCm39) G436E probably damaging Het
Sf3b1 A T 1: 55,038,814 (GRCm39) M823K probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Syne2 G T 12: 75,969,857 (GRCm39) E977D probably null Het
Tns2 A T 15: 102,015,472 (GRCm39) M125L possibly damaging Het
Ttn T A 2: 76,542,313 (GRCm39) K31812* probably null Het
Ube4b G A 4: 149,510,453 (GRCm39) probably benign Het
Vmn2r91 G A 17: 18,355,865 (GRCm39) probably null Het
Zbtb49 G A 5: 38,360,431 (GRCm39) probably null Het
Zswim8 T A 14: 20,768,594 (GRCm39) S1035T probably damaging Het
Other mutations in Mfsd4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Mfsd4b1 APN 10 39,879,115 (GRCm39) missense probably benign 0.16
IGL03356:Mfsd4b1 APN 10 39,878,827 (GRCm39) missense probably damaging 0.97
R1467:Mfsd4b1 UTSW 10 39,878,631 (GRCm39) missense possibly damaging 0.93
R1467:Mfsd4b1 UTSW 10 39,878,631 (GRCm39) missense possibly damaging 0.93
R1770:Mfsd4b1 UTSW 10 39,879,223 (GRCm39) missense probably damaging 0.99
R1930:Mfsd4b1 UTSW 10 39,882,070 (GRCm39) missense probably benign 0.01
R2122:Mfsd4b1 UTSW 10 39,878,647 (GRCm39) missense possibly damaging 0.91
R2290:Mfsd4b1 UTSW 10 39,879,327 (GRCm39) missense probably damaging 0.99
R3508:Mfsd4b1 UTSW 10 39,878,715 (GRCm39) missense probably benign 0.15
R4469:Mfsd4b1 UTSW 10 39,888,091 (GRCm39) intron probably benign
R4594:Mfsd4b1 UTSW 10 39,883,313 (GRCm39) missense probably benign 0.00
R5300:Mfsd4b1 UTSW 10 39,879,027 (GRCm39) missense probably benign
R6250:Mfsd4b1 UTSW 10 39,879,106 (GRCm39) missense possibly damaging 0.92
R7061:Mfsd4b1 UTSW 10 39,879,382 (GRCm39) missense possibly damaging 0.83
R7595:Mfsd4b1 UTSW 10 39,879,221 (GRCm39) nonsense probably null
R7734:Mfsd4b1 UTSW 10 39,883,374 (GRCm39) missense probably damaging 0.98
R7737:Mfsd4b1 UTSW 10 39,879,274 (GRCm39) missense probably damaging 0.97
R7852:Mfsd4b1 UTSW 10 39,879,411 (GRCm39) missense probably benign 0.23
R7893:Mfsd4b1 UTSW 10 39,883,313 (GRCm39) missense probably benign 0.00
R9278:Mfsd4b1 UTSW 10 39,883,330 (GRCm39) missense probably damaging 0.99
R9441:Mfsd4b1 UTSW 10 39,878,680 (GRCm39) missense possibly damaging 0.91
R9786:Mfsd4b1 UTSW 10 39,878,865 (GRCm39) missense probably damaging 0.98
X0063:Mfsd4b1 UTSW 10 39,883,303 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGCAAGGACAGTCGACACC -3'
(R):5'- CTGCAACTCTGTGTTAACTCAG -3'

Sequencing Primer
(F):5'- AGTCGACACCACCCGCTG -3'
(R):5'- TTCCACTCCTGAGTTACG -3'
Posted On 2018-05-24