Incidental Mutation 'IGL01701:Gm57859'
ID 104471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm57859
Ensembl Gene ENSMUSG00000041623
Gene Name predicted gene, 57859
Synonyms D11Wsu47e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01701
Quality Score
Status
Chromosome 11
Chromosomal Location 113575238-113585473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113579927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 441 (F441L)
Ref Sequence ENSEMBL: ENSMUSP00000102232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]
AlphaFold Q6PIX9
Predicted Effect probably benign
Transcript: ENSMUST00000042227
AA Change: F441L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: F441L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106621
AA Change: F441L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: F441L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123466
Predicted Effect probably benign
Transcript: ENSMUST00000153732
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,254,776 (GRCm39) Y36H possibly damaging Het
Adgrv1 T C 13: 81,567,750 (GRCm39) D5141G possibly damaging Het
Adk G A 14: 21,153,922 (GRCm39) E42K probably damaging Het
Akap1 C A 11: 88,735,958 (GRCm39) V268L probably benign Het
Arl6ip5 A G 6: 97,187,774 (GRCm39) probably benign Het
Atrx A G X: 104,874,526 (GRCm39) S1945P probably damaging Het
Clec5a G A 6: 40,559,160 (GRCm39) probably benign Het
Cplane1 T C 15: 8,232,741 (GRCm39) probably benign Het
Cul3 G T 1: 80,255,140 (GRCm39) H6Q probably damaging Het
Fn1 T C 1: 71,669,012 (GRCm39) probably benign Het
Furin C A 7: 80,042,240 (GRCm39) V452F probably benign Het
Furin T A 7: 80,040,507 (GRCm39) D777V probably benign Het
Hmgb4 G A 4: 128,154,166 (GRCm39) T134I probably benign Het
Ift74 A T 4: 94,550,895 (GRCm39) E349V possibly damaging Het
Igkv6-23 A T 6: 70,237,880 (GRCm39) L13Q probably damaging Het
Lekr1 A T 3: 65,591,425 (GRCm39) Y54F probably damaging Het
Lman1 A T 18: 66,127,921 (GRCm39) V241E possibly damaging Het
Mat1a T A 14: 40,836,772 (GRCm39) D167E probably benign Het
Myl6 G A 10: 128,327,966 (GRCm39) A130V probably damaging Het
Myo9a T C 9: 59,791,877 (GRCm39) probably null Het
Nlrp4f A T 13: 65,347,223 (GRCm39) W12R probably damaging Het
Nr1h4 T C 10: 89,314,669 (GRCm39) R276G probably benign Het
Or4f61 T C 2: 111,922,851 (GRCm39) N65S possibly damaging Het
Or5m13b C A 2: 85,754,421 (GRCm39) Q270K possibly damaging Het
Pag1 C T 3: 9,758,886 (GRCm39) E411K probably damaging Het
Prorp T G 12: 55,355,660 (GRCm39) probably benign Het
Rttn A G 18: 89,082,339 (GRCm39) N1422D probably damaging Het
Ryr1 C T 7: 28,759,235 (GRCm39) R3345Q probably damaging Het
Slc12a8 T C 16: 33,361,280 (GRCm39) L85P probably damaging Het
Slc22a17 T C 14: 55,144,718 (GRCm39) H565R probably damaging Het
Slc46a3 T C 5: 147,823,108 (GRCm39) T245A probably benign Het
Thsd7b A G 1: 129,358,665 (GRCm39) H33R probably benign Het
Tmem131 A G 1: 36,847,318 (GRCm39) V1260A probably benign Het
Tmem30a A T 9: 79,681,461 (GRCm39) F236Y probably damaging Het
Trim30b A C 7: 104,015,258 (GRCm39) Y43* probably null Het
Trpc3 T C 3: 36,725,743 (GRCm39) K78E possibly damaging Het
Twist2 A T 1: 91,729,736 (GRCm39) M130L probably benign Het
Ube2q2l T A 6: 136,377,804 (GRCm39) Y342F probably damaging Het
Other mutations in Gm57859
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Gm57859 APN 11 113,583,296 (GRCm39) missense probably benign 0.19
R0483:Gm57859 UTSW 11 113,580,021 (GRCm39) missense possibly damaging 0.92
R0601:Gm57859 UTSW 11 113,578,712 (GRCm39) missense probably benign 0.38
R1567:Gm57859 UTSW 11 113,578,728 (GRCm39) missense probably damaging 0.99
R4834:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R4923:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R5194:Gm57859 UTSW 11 113,579,654 (GRCm39) missense possibly damaging 0.83
R5779:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R5815:Gm57859 UTSW 11 113,578,783 (GRCm39) splice site probably null
R6174:Gm57859 UTSW 11 113,579,801 (GRCm39) missense possibly damaging 0.46
R6566:Gm57859 UTSW 11 113,578,824 (GRCm39) missense probably damaging 0.96
R6837:Gm57859 UTSW 11 113,579,439 (GRCm39) missense possibly damaging 0.90
R6974:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R7497:Gm57859 UTSW 11 113,583,223 (GRCm39) missense probably damaging 0.97
R9439:Gm57859 UTSW 11 113,583,229 (GRCm39) nonsense probably null
Posted On 2014-01-21