Incidental Mutation 'IGL02370:Gm4858'
ID290876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4858
Ensembl Gene ENSMUSG00000096879
Gene Namepredicted gene 4858
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock #IGL02370
Quality Score
Status
Chromosome3
Chromosomal Location93068823-93075505 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93074047 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 124 (D124G)
Ref Sequence ENSEMBL: ENSMUSP00000141677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179064] [ENSMUST00000194595] [ENSMUST00000195847]
Predicted Effect probably benign
Transcript: ENSMUST00000179064
AA Change: D50G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879
AA Change: D50G

DomainStartEndE-ValueType
BTB 62 161 1.73e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194595
AA Change: D50G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879
AA Change: D50G

DomainStartEndE-ValueType
BTB 62 161 1.73e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195847
AA Change: D124G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: D124G

DomainStartEndE-ValueType
Blast:MATH 1 78 5e-51 BLAST
SCOP:d1czya1 3 99 3e-12 SMART
BTB 136 235 1.1e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Gm4858
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1872:Gm4858 UTSW 3 93074422 missense probably damaging 1.00
R1992:Gm4858 UTSW 3 93074037 missense probably benign 0.00
R3799:Gm4858 UTSW 3 93074086 missense probably damaging 1.00
R5045:Gm4858 UTSW 3 93074217 missense probably damaging 1.00
R5235:Gm4858 UTSW 3 93074086 missense probably damaging 1.00
R5819:Gm4858 UTSW 3 93073732 missense probably damaging 1.00
R6928:Gm4858 UTSW 3 93073960 missense probably damaging 1.00
R6937:Gm4858 UTSW 3 93074110 missense probably benign 0.14
R6956:Gm4858 UTSW 3 93073972 missense possibly damaging 0.57
R7228:Gm4858 UTSW 3 93073686 missense possibly damaging 0.96
R7273:Gm4858 UTSW 3 93074168 missense probably damaging 1.00
R7308:Gm4858 UTSW 3 93074565 missense probably benign
R7704:Gm4858 UTSW 3 93074445 missense probably benign
Posted On2015-04-16