Incidental Mutation 'R4722:Fuom'
ID 354541
Institutional Source Beutler Lab
Gene Symbol Fuom
Ensembl Gene ENSMUSG00000025466
Gene Name fucose mutarotase
Synonyms 1810014F10Rik
MMRRC Submission 041987-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4722 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139676683-139682354 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 139679480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026539] [ENSMUST00000026540] [ENSMUST00000120034] [ENSMUST00000121115] [ENSMUST00000142105] [ENSMUST00000148716]
AlphaFold Q8R2K1
Predicted Effect probably benign
Transcript: ENSMUST00000026539
SMART Domains Protein: ENSMUSP00000026539
Gene: ENSMUSG00000025466

DomainStartEndE-ValueType
Pfam:RbsD_FucU 5 148 1.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026540
SMART Domains Protein: ENSMUSP00000026540
Gene: ENSMUSG00000025467

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:PRAP 100 144 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120034
SMART Domains Protein: ENSMUSP00000112429
Gene: ENSMUSG00000025466

DomainStartEndE-ValueType
Pfam:RbsD_FucU 5 134 5.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121115
SMART Domains Protein: ENSMUSP00000112970
Gene: ENSMUSG00000025466

DomainStartEndE-ValueType
Pfam:RbsD_FucU 5 117 9.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125421
Predicted Effect probably benign
Transcript: ENSMUST00000128527
SMART Domains Protein: ENSMUSP00000118717
Gene: ENSMUSG00000025466

DomainStartEndE-ValueType
Pfam:RbsD_FucU 1 105 4.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133834
Predicted Effect unknown
Transcript: ENSMUST00000142105
AA Change: S147P
SMART Domains Protein: ENSMUSP00000115799
Gene: ENSMUSG00000025466
AA Change: S147P

DomainStartEndE-ValueType
Pfam:RbsD_FucU 1 134 3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147713
Predicted Effect probably benign
Transcript: ENSMUST00000211677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138197
Predicted Effect probably benign
Transcript: ENSMUST00000148716
SMART Domains Protein: ENSMUSP00000120353
Gene: ENSMUSG00000025466

DomainStartEndE-ValueType
Pfam:RbsD_FucU 5 133 7.8e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (68/69)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced female sexual receptivity and masculinized sexual behaviors in female mice. Heterozygous mice exhibit intermediate phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G T 12: 55,107,922 (GRCm39) D92E probably benign Het
Abca17 A G 17: 24,484,403 (GRCm39) F1620L probably damaging Het
Abcf1 T C 17: 36,268,933 (GRCm39) probably benign Het
Adtrp T C 13: 41,920,823 (GRCm39) H248R probably benign Het
Aldh1b1 T G 4: 45,803,472 (GRCm39) F337V probably damaging Het
Amz2 C T 11: 109,325,457 (GRCm39) L272F probably damaging Het
Asic2 A T 11: 81,859,009 (GRCm39) M1K probably null Het
Avpr1a T A 10: 122,284,906 (GRCm39) V66E possibly damaging Het
AW554918 C A 18: 25,307,772 (GRCm39) Y28* probably null Het
Cdc25b C T 2: 131,035,271 (GRCm39) P343L probably damaging Het
Chd7 T A 4: 8,822,445 (GRCm39) I846K probably damaging Het
Dnajc13 A T 9: 104,091,017 (GRCm39) M688K probably benign Het
Dock2 T A 11: 34,586,298 (GRCm39) I505F probably damaging Het
Dpy19l4 A G 4: 11,290,521 (GRCm39) V290A possibly damaging Het
Dtl G T 1: 191,288,953 (GRCm39) Q254K possibly damaging Het
Enpp2 T G 15: 54,750,985 (GRCm39) K265T probably damaging Het
Epm2aip1 TGTCGCCG TG 9: 111,101,152 (GRCm39) probably benign Het
Fam133b T A 5: 3,593,949 (GRCm39) probably null Het
Fut9 T C 4: 25,799,734 (GRCm39) probably benign Het
Gas8 T A 8: 124,252,374 (GRCm39) I171N possibly damaging Het
Gipc3 T G 10: 81,177,129 (GRCm39) D147A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5591 T C 7: 38,218,572 (GRCm39) K767R probably damaging Het
Kctd8 G A 5: 69,498,544 (GRCm39) P34L possibly damaging Het
Kmt2b G A 7: 30,282,627 (GRCm39) R403C probably damaging Het
Krt84 A T 15: 101,436,846 (GRCm39) I396N probably damaging Het
Lrrk2 C A 15: 91,573,104 (GRCm39) F217L probably damaging Het
Med27 T A 2: 29,414,447 (GRCm39) D290E probably damaging Het
Mical3 T C 6: 121,015,486 (GRCm39) Q184R probably benign Het
Mlxip A T 5: 123,585,265 (GRCm39) K591M probably benign Het
Mutyh T A 4: 116,674,069 (GRCm39) L233H probably damaging Het
Naip6 G T 13: 100,443,580 (GRCm39) H253N possibly damaging Het
Nynrin A G 14: 56,091,852 (GRCm39) E56G probably damaging Het
Oip5 C T 2: 119,443,492 (GRCm39) probably null Het
Or10a4 T A 7: 106,696,777 (GRCm39) I35N possibly damaging Het
Or10ak12 T C 4: 118,666,146 (GRCm39) N305S probably damaging Het
Or4c104 T G 2: 88,586,356 (GRCm39) H221P possibly damaging Het
Or4c15 T C 2: 88,760,324 (GRCm39) I112V possibly damaging Het
Or5p61 T A 7: 107,758,445 (GRCm39) I212F probably benign Het
Oxr1 T C 15: 41,677,045 (GRCm39) S132P probably damaging Het
Pcdhac1 C T 18: 37,224,933 (GRCm39) T582I probably damaging Het
Prl7a2 A G 13: 27,844,858 (GRCm39) I176T probably damaging Het
Rabgap1l T C 1: 160,169,734 (GRCm39) T30A possibly damaging Het
Rapgef2 A G 3: 78,976,480 (GRCm39) M1294T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rnmt T A 18: 68,438,952 (GRCm39) N20K probably damaging Het
Scn7a T A 2: 66,531,228 (GRCm39) T550S possibly damaging Het
Shank1 T A 7: 43,962,638 (GRCm39) Y117* probably null Het
Skint5 T A 4: 113,751,052 (GRCm39) K331I unknown Het
Slc5a1 A G 5: 33,304,055 (GRCm39) Y290C possibly damaging Het
Slfn14 T C 11: 83,174,244 (GRCm39) E249G probably benign Het
Smarcal1 T C 1: 72,650,496 (GRCm39) S544P probably damaging Het
St6galnac3 A T 3: 153,117,166 (GRCm39) Y186N probably damaging Het
Tbc1d1 T C 5: 64,420,900 (GRCm39) F346S probably damaging Het
Tdrd5 A T 1: 156,129,945 (GRCm39) I75K probably benign Het
Tnrc6a T C 7: 122,791,313 (GRCm39) M1737T possibly damaging Het
Toe1 A T 4: 116,662,397 (GRCm39) Y283N probably damaging Het
Tubal3 G T 13: 3,978,185 (GRCm39) G34C probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn1r212 T C 13: 23,068,078 (GRCm39) Y85C probably damaging Het
Yju2b A T 8: 84,985,439 (GRCm39) C277S probably benign Het
Zdhhc4 A G 5: 143,307,536 (GRCm39) S162P probably damaging Het
Zfp712 A G 13: 67,190,177 (GRCm39) S117P probably benign Het
Zic4 G T 9: 91,261,257 (GRCm39) G164C probably damaging Het
Other mutations in Fuom
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1248:Fuom UTSW 7 139,679,631 (GRCm39) splice site probably benign
R1938:Fuom UTSW 7 139,679,521 (GRCm39) missense probably benign 0.01
R2924:Fuom UTSW 7 139,679,862 (GRCm39) missense probably benign
R2925:Fuom UTSW 7 139,679,862 (GRCm39) missense probably benign
R5542:Fuom UTSW 7 139,680,025 (GRCm39) makesense probably null
R5958:Fuom UTSW 7 139,679,811 (GRCm39) missense probably damaging 1.00
R7392:Fuom UTSW 7 139,681,073 (GRCm39) missense probably damaging 1.00
R7734:Fuom UTSW 7 139,679,455 (GRCm39) missense unknown
R7892:Fuom UTSW 7 139,679,492 (GRCm39) missense unknown
R8026:Fuom UTSW 7 139,680,067 (GRCm39) missense
R9190:Fuom UTSW 7 139,681,252 (GRCm39) missense probably benign 0.30
R9610:Fuom UTSW 7 139,679,828 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TAACTGAGGATTCGTCACGG -3'
(R):5'- TTTGCCCATGAAGGTGAGAGG -3'

Sequencing Primer
(F):5'- GGCACGTAGGGGATGCTTC -3'
(R):5'- TCTCTGAGAGCAAAGTTGGAGTCC -3'
Posted On 2015-10-21