Incidental Mutation 'IGL00579:Gm11595'
ID6027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11595
Ensembl Gene ENSMUSG00000078668
Gene Namepredicted gene 11595
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00579
Quality Score
Status
Chromosome11
Chromosomal Location99771714-99772913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99772042 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 271 (T271A)
Ref Sequence ENSEMBL: ENSMUSP00000103064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107440]
Predicted Effect unknown
Transcript: ENSMUST00000107440
AA Change: T271A
SMART Domains Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: T271A

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 7.5e-9 PFAM
Pfam:Keratin_B2_2 14 58 2.8e-13 PFAM
Pfam:Keratin_B2_2 29 73 1.2e-13 PFAM
Pfam:Keratin_B2_2 72 112 2.3e-12 PFAM
Pfam:Keratin_B2_2 107 152 4.6e-14 PFAM
Pfam:Keratin_B2_2 118 162 1.1e-13 PFAM
Pfam:Keratin_B2_2 143 187 3.5e-10 PFAM
Pfam:Keratin_B2_2 168 212 5.6e-13 PFAM
Pfam:Keratin_B2_2 178 222 2.4e-12 PFAM
Pfam:Keratin_B2_2 208 257 1.6e-11 PFAM
Pfam:Keratin_B2_2 223 267 4e-14 PFAM
Pfam:Keratin_B2_2 248 289 9e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,568,796 E365G possibly damaging Het
Adamts12 T C 15: 11,152,014 Y197H probably benign Het
Cept1 A T 3: 106,505,803 V202E possibly damaging Het
Cfap53 A T 18: 74,305,540 K263* probably null Het
Dennd3 T C 15: 73,540,842 I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 probably benign Het
Egf T A 3: 129,697,798 H850L probably benign Het
Gorab T C 1: 163,394,687 E142G probably damaging Het
Gpat4 A G 8: 23,182,775 S20P probably damaging Het
Gpr83 T C 9: 14,860,601 V23A probably benign Het
Il13ra2 A G X: 147,394,390 Y146H probably damaging Het
Kcnj16 C T 11: 111,025,208 T232M probably benign Het
Mdfic A T 6: 15,741,074 I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 probably benign Het
Olr1 C T 6: 129,493,523 R227K probably benign Het
Otof T A 5: 30,399,322 I257F possibly damaging Het
Oxsr1 T A 9: 119,259,211 R43S probably damaging Het
Prkdc A G 16: 15,664,239 D382G probably damaging Het
Slc35b2 G T 17: 45,564,960 V81L probably damaging Het
Thumpd3 G A 6: 113,047,661 R72H possibly damaging Het
Tmem206 T C 1: 191,328,208 V21A unknown Het
Tsga10 G A 1: 37,835,453 T117I probably damaging Het
Vps13a T A 19: 16,707,362 T953S probably benign Het
Wdr62 A C 7: 30,267,895 C311W probably damaging Het
Wdr74 A G 19: 8,739,466 T247A possibly damaging Het
Zbtb26 A T 2: 37,436,442 V194D possibly damaging Het
Zfp639 A T 3: 32,520,477 E417V probably damaging Het
Other mutations in Gm11595
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Gm11595 APN 11 99772539 missense unknown
IGL01662:Gm11595 APN 11 99772672 missense unknown
IGL01994:Gm11595 APN 11 99772201 missense unknown
R0548:Gm11595 UTSW 11 99772141 missense unknown
R1923:Gm11595 UTSW 11 99772539 missense unknown
R2127:Gm11595 UTSW 11 99772501 missense unknown
R2128:Gm11595 UTSW 11 99772501 missense unknown
R3807:Gm11595 UTSW 11 99772554 missense unknown
R4007:Gm11595 UTSW 11 99772035 missense unknown
R5281:Gm11595 UTSW 11 99772555 missense unknown
R5283:Gm11595 UTSW 11 99772555 missense unknown
R5303:Gm11595 UTSW 11 99772555 missense unknown
R5305:Gm11595 UTSW 11 99772555 missense unknown
R5306:Gm11595 UTSW 11 99772555 missense unknown
R5307:Gm11595 UTSW 11 99772555 missense unknown
R5308:Gm11595 UTSW 11 99772555 missense unknown
R5561:Gm11595 UTSW 11 99772555 missense unknown
R5637:Gm11595 UTSW 11 99772555 missense unknown
R5639:Gm11595 UTSW 11 99772555 missense unknown
R5718:Gm11595 UTSW 11 99772555 missense unknown
R5719:Gm11595 UTSW 11 99772555 missense unknown
R5720:Gm11595 UTSW 11 99772555 missense unknown
R5721:Gm11595 UTSW 11 99772555 missense unknown
R5769:Gm11595 UTSW 11 99772555 missense unknown
R5770:Gm11595 UTSW 11 99772555 missense unknown
R5771:Gm11595 UTSW 11 99772555 missense unknown
R5791:Gm11595 UTSW 11 99772555 missense unknown
R5841:Gm11595 UTSW 11 99772317 missense unknown
R6054:Gm11595 UTSW 11 99772648 missense unknown
R6277:Gm11595 UTSW 11 99772684 missense unknown
R6281:Gm11595 UTSW 11 99772555 missense unknown
R6282:Gm11595 UTSW 11 99772555 missense unknown
R6310:Gm11595 UTSW 11 99772555 missense unknown
R6321:Gm11595 UTSW 11 99772555 missense unknown
R6322:Gm11595 UTSW 11 99772555 missense unknown
R6327:Gm11595 UTSW 11 99772555 missense unknown
R6337:Gm11595 UTSW 11 99772555 missense unknown
R6368:Gm11595 UTSW 11 99772555 missense unknown
R6369:Gm11595 UTSW 11 99772555 missense unknown
R6431:Gm11595 UTSW 11 99772774 missense unknown
R6483:Gm11595 UTSW 11 99772555 missense unknown
R6485:Gm11595 UTSW 11 99772555 missense unknown
R6493:Gm11595 UTSW 11 99772555 missense unknown
R6758:Gm11595 UTSW 11 99772540 missense unknown
R6758:Gm11595 UTSW 11 99772541 nonsense probably null
R7037:Gm11595 UTSW 11 99772648 missense unknown
R8053:Gm11595 UTSW 11 99772128 missense unknown
Posted On2012-04-20