Incidental Mutation 'IGL01295:Gm5114'
ID 73039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5114
Ensembl Gene ENSMUSG00000053742
Gene Name predicted gene 5114
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01295
Quality Score
Status
Chromosome 7
Chromosomal Location 39056718-39062584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39057241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 793 (W793R)
Ref Sequence ENSEMBL: ENSMUSP00000103652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108017]
AlphaFold W4VSN8
Predicted Effect probably damaging
Transcript: ENSMUST00000108017
AA Change: W793R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: W793R

DomainStartEndE-ValueType
Pfam:DUF4629 435 580 2.5e-65 PFAM
low complexity region 709 726 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,893 (GRCm39) L691I possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Apol10b A T 15: 77,469,796 (GRCm39) V127E probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Atn1 T C 6: 124,726,239 (GRCm39) E80G probably damaging Het
Carmil2 T C 8: 106,422,148 (GRCm39) M1139T probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Celf5 G T 10: 81,302,914 (GRCm39) probably benign Het
Chd6 G A 2: 160,830,290 (GRCm39) probably benign Het
Col12a1 A T 9: 79,551,208 (GRCm39) V2136E probably damaging Het
Col4a1 G T 8: 11,286,075 (GRCm39) probably benign Het
Dph1 A G 11: 75,071,775 (GRCm39) probably benign Het
Dvl2 G T 11: 69,900,410 (GRCm39) V735F possibly damaging Het
Eif3b A G 5: 140,427,495 (GRCm39) I709V possibly damaging Het
Elp5 C T 11: 69,859,296 (GRCm39) probably benign Het
Exd1 A T 2: 119,360,560 (GRCm39) probably benign Het
Fbxl4 C A 4: 22,427,348 (GRCm39) R530S probably benign Het
Fmo4 A T 1: 162,626,693 (GRCm39) D284E probably damaging Het
Fn3krp A G 11: 121,312,380 (GRCm39) Y31C probably damaging Het
Galnt14 G T 17: 73,811,914 (GRCm39) Q436K probably benign Het
Gm9376 T G 14: 118,505,059 (GRCm39) S164A possibly damaging Het
Gtf2ird2 G A 5: 134,221,603 (GRCm39) D69N probably damaging Het
Hfm1 A C 5: 107,065,472 (GRCm39) M69R possibly damaging Het
Ighv9-1 A C 12: 114,057,619 (GRCm39) S94A probably damaging Het
Ikzf2 C T 1: 69,617,146 (GRCm39) R67H probably benign Het
Ipcef1 A T 10: 6,850,642 (GRCm39) F316L probably damaging Het
Kdsr A G 1: 106,683,187 (GRCm39) V62A possibly damaging Het
Kif23 A T 9: 61,839,411 (GRCm39) C279S possibly damaging Het
Klf5 C T 14: 99,539,157 (GRCm39) T110I probably benign Het
Klhl25 T A 7: 75,515,620 (GRCm39) H175Q probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nfatc4 T C 14: 56,069,962 (GRCm39) V710A probably benign Het
Optn G A 2: 5,037,967 (GRCm39) T409I possibly damaging Het
Or10j3b A T 1: 173,043,440 (GRCm39) Y74F probably damaging Het
Or52a5 C T 7: 103,427,448 (GRCm39) V35I probably benign Het
Pabpc2 T A 18: 39,907,082 (GRCm39) Y116N probably damaging Het
Pafah1b1 G T 11: 74,574,473 (GRCm39) R238S probably damaging Het
Pdzd9 C T 7: 120,267,618 (GRCm39) G66R probably damaging Het
Pih1d1 T C 7: 44,809,388 (GRCm39) L285P probably damaging Het
Pirb G A 7: 3,720,405 (GRCm39) P323S probably damaging Het
Pkd1l1 A G 11: 8,883,685 (GRCm39) F396L possibly damaging Het
Pla2g4d G A 2: 120,112,207 (GRCm39) T108M probably damaging Het
Plin3 T C 17: 56,586,814 (GRCm39) Y411C probably damaging Het
Ppfibp2 T C 7: 107,346,746 (GRCm39) probably benign Het
Prrc2c T C 1: 162,510,061 (GRCm39) S995G probably damaging Het
Ptf1a T C 2: 19,451,429 (GRCm39) I253T probably damaging Het
Ptprb A G 10: 116,198,553 (GRCm39) I1684V probably benign Het
Ptprk G A 10: 28,351,174 (GRCm39) V556I probably benign Het
Rffl A T 11: 82,709,283 (GRCm39) C47S probably damaging Het
Rnf17 C T 14: 56,700,521 (GRCm39) Q569* probably null Het
Shprh A G 10: 11,059,612 (GRCm39) E1121G probably damaging Het
Slc1a5 A G 7: 16,529,787 (GRCm39) D402G probably damaging Het
Slc24a3 G A 2: 145,458,634 (GRCm39) probably null Het
Slc2a13 T A 15: 91,234,335 (GRCm39) probably null Het
Slc30a8 A T 15: 52,169,955 (GRCm39) N61Y possibly damaging Het
Slitrk6 A T 14: 110,988,868 (GRCm39) S280T possibly damaging Het
Smad2 G A 18: 76,435,501 (GRCm39) A365T probably benign Het
Tcp10b C T 17: 13,299,047 (GRCm39) P367S probably damaging Het
Tdp1 A G 12: 99,857,929 (GRCm39) N163D probably benign Het
Thbs1 A G 2: 117,948,808 (GRCm39) D488G possibly damaging Het
Trappc12 C T 12: 28,796,761 (GRCm39) S257N probably damaging Het
Treml1 T C 17: 48,672,627 (GRCm39) probably benign Het
Ugt2b36 A G 5: 87,228,744 (GRCm39) V234A probably damaging Het
Vmn2r86 T G 10: 130,288,895 (GRCm39) H202P probably damaging Het
Vmn2r87 C A 10: 130,307,878 (GRCm39) V787F probably damaging Het
Wbp2nl T A 15: 82,190,619 (GRCm39) M129K probably damaging Het
Zdhhc15 T C X: 103,588,519 (GRCm39) probably null Het
Other mutations in Gm5114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Gm5114 APN 7 39,060,071 (GRCm39) splice site probably benign
IGL01349:Gm5114 APN 7 39,058,531 (GRCm39) missense probably benign
IGL01633:Gm5114 APN 7 39,057,490 (GRCm39) missense probably benign
IGL01634:Gm5114 APN 7 39,058,071 (GRCm39) missense probably benign
IGL02072:Gm5114 APN 7 39,060,826 (GRCm39) missense probably benign 0.00
FR4304:Gm5114 UTSW 7 39,060,530 (GRCm39) missense probably benign 0.00
FR4304:Gm5114 UTSW 7 39,060,529 (GRCm39) missense probably benign
R0034:Gm5114 UTSW 7 39,058,282 (GRCm39) missense possibly damaging 0.83
R0127:Gm5114 UTSW 7 39,057,880 (GRCm39) missense probably benign 0.00
R0328:Gm5114 UTSW 7 39,057,885 (GRCm39) missense probably damaging 1.00
R0387:Gm5114 UTSW 7 39,058,233 (GRCm39) missense probably benign 0.15
R0693:Gm5114 UTSW 7 39,058,188 (GRCm39) missense probably benign 0.00
R1006:Gm5114 UTSW 7 39,058,510 (GRCm39) missense probably damaging 1.00
R2039:Gm5114 UTSW 7 39,058,612 (GRCm39) missense probably damaging 1.00
R3433:Gm5114 UTSW 7 39,058,621 (GRCm39) missense probably benign 0.02
R3834:Gm5114 UTSW 7 39,058,161 (GRCm39) missense possibly damaging 0.69
R4320:Gm5114 UTSW 7 39,057,051 (GRCm39) missense probably damaging 1.00
R5214:Gm5114 UTSW 7 39,057,792 (GRCm39) missense probably benign 0.19
R5443:Gm5114 UTSW 7 39,058,289 (GRCm39) missense probably benign 0.00
R5471:Gm5114 UTSW 7 39,058,534 (GRCm39) nonsense probably null
R5707:Gm5114 UTSW 7 39,060,700 (GRCm39) missense probably benign 0.01
R6129:Gm5114 UTSW 7 39,058,024 (GRCm39) missense possibly damaging 0.71
R6234:Gm5114 UTSW 7 39,058,768 (GRCm39) missense probably benign 0.19
R6326:Gm5114 UTSW 7 39,057,579 (GRCm39) missense probably benign
R6443:Gm5114 UTSW 7 39,057,141 (GRCm39) missense possibly damaging 0.91
R6530:Gm5114 UTSW 7 39,057,514 (GRCm39) missense probably damaging 1.00
R6743:Gm5114 UTSW 7 39,057,997 (GRCm39) missense probably benign 0.42
R6770:Gm5114 UTSW 7 39,057,967 (GRCm39) missense possibly damaging 0.94
R6885:Gm5114 UTSW 7 39,057,580 (GRCm39) missense probably benign 0.01
R6980:Gm5114 UTSW 7 39,058,624 (GRCm39) missense probably benign 0.01
R7100:Gm5114 UTSW 7 39,057,708 (GRCm39) missense possibly damaging 0.52
R7215:Gm5114 UTSW 7 39,060,795 (GRCm39) missense probably benign 0.02
R7254:Gm5114 UTSW 7 39,058,390 (GRCm39) missense probably benign 0.35
R7343:Gm5114 UTSW 7 39,058,180 (GRCm39) missense probably damaging 1.00
R7366:Gm5114 UTSW 7 39,058,768 (GRCm39) missense possibly damaging 0.69
R7474:Gm5114 UTSW 7 39,057,404 (GRCm39) missense probably benign 0.01
R7499:Gm5114 UTSW 7 39,058,489 (GRCm39) missense possibly damaging 0.55
R8022:Gm5114 UTSW 7 39,058,800 (GRCm39) missense probably benign
R8121:Gm5114 UTSW 7 39,057,552 (GRCm39) missense probably benign 0.15
R8201:Gm5114 UTSW 7 39,060,373 (GRCm39) missense probably damaging 0.98
R8212:Gm5114 UTSW 7 39,060,676 (GRCm39) missense probably benign 0.18
R8321:Gm5114 UTSW 7 39,060,273 (GRCm39) missense possibly damaging 0.85
R8725:Gm5114 UTSW 7 39,060,657 (GRCm39) missense probably benign 0.17
R8752:Gm5114 UTSW 7 39,057,927 (GRCm39) missense probably damaging 0.99
R8891:Gm5114 UTSW 7 39,057,718 (GRCm39) missense probably benign 0.05
R8934:Gm5114 UTSW 7 39,060,553 (GRCm39) missense probably benign 0.14
R8969:Gm5114 UTSW 7 39,058,732 (GRCm39) missense probably damaging 1.00
R9158:Gm5114 UTSW 7 39,060,486 (GRCm39) missense probably damaging 0.97
R9419:Gm5114 UTSW 7 39,057,540 (GRCm39) missense possibly damaging 0.92
R9453:Gm5114 UTSW 7 39,058,242 (GRCm39) missense probably damaging 0.99
Z1088:Gm5114 UTSW 7 39,057,871 (GRCm39) missense probably damaging 1.00
Z1177:Gm5114 UTSW 7 39,058,750 (GRCm39) missense probably benign 0.03
Posted On 2013-10-07