Incidental Mutation 'IGL02615:Gm12394'
ID300626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12394
Ensembl Gene ENSMUSG00000078722
Gene Namepredicted gene 12394
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02615
Quality Score
Status
Chromosome4
Chromosomal Location42781928-42856771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42793027 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 368 (M368I)
Ref Sequence ENSEMBL: ENSMUSP00000103615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107981] [ENSMUST00000107984]
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107981
AA Change: M368I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722
AA Change: M368I

DomainStartEndE-ValueType
Pfam:DUF4599 1 56 1.4e-15 PFAM
low complexity region 87 104 N/A INTRINSIC
Pfam:FAM75 157 279 9.4e-9 PFAM
Pfam:FAM75 322 366 6.1e-10 PFAM
Pfam:FAM75 365 543 8.3e-11 PFAM
low complexity region 882 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Aph1c A T 9: 66,819,406 V222E possibly damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Bcl2l13 A T 6: 120,862,867 D42V probably damaging Het
Bhlhe22 C T 3: 18,054,900 T38I possibly damaging Het
Ccdc51 A T 9: 109,089,435 T31S probably benign Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Scp2 A G 4: 108,107,631 V62A probably benign Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Gm12394
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Gm12394 APN 4 42793784 missense possibly damaging 0.93
IGL01584:Gm12394 APN 4 42794014 missense probably damaging 0.99
IGL02188:Gm12394 APN 4 42791994 intron probably null
IGL03058:Gm12394 APN 4 42793764 missense probably damaging 0.98
IGL03101:Gm12394 APN 4 42793424 missense possibly damaging 0.63
LCD18:Gm12394 UTSW 4 42792885 missense probably benign 0.06
R5959:Gm12394 UTSW 4 42793492 missense probably damaging 1.00
R6123:Gm12394 UTSW 4 42793065 missense possibly damaging 0.92
R6221:Gm12394 UTSW 4 42793153 missense probably benign 0.00
R6450:Gm12394 UTSW 4 42792489 missense probably damaging 1.00
R6518:Gm12394 UTSW 4 42791750 missense probably benign 0.00
R6622:Gm12394 UTSW 4 42793111 missense probably damaging 1.00
R6962:Gm12394 UTSW 4 42793323 missense probably damaging 0.98
R7301:Gm12394 UTSW 4 42792923 missense possibly damaging 0.64
R7334:Gm12394 UTSW 4 42793856 missense possibly damaging 0.80
R7501:Gm12394 UTSW 4 42791357 missense probably damaging 1.00
R7788:Gm12394 UTSW 4 42793546 missense possibly damaging 0.92
R7807:Gm12394 UTSW 4 42793885 missense probably benign 0.00
Z1177:Gm12394 UTSW 4 42793428 missense probably damaging 1.00
Z1177:Gm12394 UTSW 4 42793520 missense probably damaging 0.96
Posted On2015-04-16