Incidental Mutation 'IGL02125:Gm11563'
ID280793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11563
Ensembl Gene ENSMUSG00000069718
Gene Namepredicted gene 11563
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02125
Quality Score
Status
Chromosome11
Chromosomal Location99657949-99658960 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99658805 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 41 (V41E)
Ref Sequence ENSEMBL: ENSMUSP00000090369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092695]
Predicted Effect unknown
Transcript: ENSMUST00000092695
AA Change: V41E
SMART Domains Protein: ENSMUSP00000090369
Gene: ENSMUSG00000069718
AA Change: V41E

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 58 3.9e-10 PFAM
Pfam:Keratin_B2_2 44 88 7.8e-16 PFAM
Pfam:Keratin_B2_2 59 102 3.7e-14 PFAM
internal_repeat_1 142 157 9.92e-7 PROSPERO
internal_repeat_1 152 167 9.92e-7 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119334
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik T C 5: 5,450,644 *151W probably null Het
Adam29 A T 8: 55,871,939 C493* probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd12 A G 17: 65,970,144 probably benign Het
Anxa5 G A 3: 36,452,264 T213I probably damaging Het
Baz2b A G 2: 59,968,640 L380S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cacna2d2 C T 9: 107,513,904 Q411* probably null Het
Cdh19 A G 1: 110,929,884 V240A possibly damaging Het
Cltc A T 11: 86,704,810 probably benign Het
Dclk3 T A 9: 111,469,107 V573E probably damaging Het
Dhx29 T C 13: 112,955,300 probably benign Het
Dip2b T C 15: 100,186,250 L918P possibly damaging Het
Dzip3 A T 16: 48,927,596 N1150K probably damaging Het
Fgf5 T C 5: 98,254,532 S41P possibly damaging Het
Galc A T 12: 98,231,509 Y120N probably damaging Het
Gldc T C 19: 30,147,241 N219S probably benign Het
Gm597 T C 1: 28,776,338 N871S possibly damaging Het
Gpatch11 T A 17: 78,840,109 N106K probably benign Het
Gpx3 A G 11: 54,907,242 N68S probably damaging Het
Ibtk T C 9: 85,735,070 N150D probably damaging Het
Iglc2 G A 16: 19,198,712 P48S probably benign Het
Itih5 G A 2: 10,240,987 R629H probably benign Het
Kank1 T A 19: 25,410,703 V552E possibly damaging Het
Kmt2a T A 9: 44,848,686 H655L probably damaging Het
Mkl2 A G 16: 13,400,183 probably null Het
Mme A T 3: 63,348,649 N510I probably damaging Het
Obscn A G 11: 59,022,362 I6943T probably damaging Het
Obscn G T 11: 59,093,326 Q1768K possibly damaging Het
Olfr209 T C 16: 59,361,516 N234S probably benign Het
Olfr633 T A 7: 103,947,072 C169S probably damaging Het
Otud3 A T 4: 138,896,714 probably null Het
Parp4 A G 14: 56,590,502 K237E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Rbbp6 T C 7: 122,971,129 probably null Het
Rdh16 G T 10: 127,811,319 probably benign Het
Ropn1 A G 16: 34,666,777 T28A probably benign Het
Sec24d T C 3: 123,358,958 V873A probably damaging Het
Serpinb3b T A 1: 107,154,744 L263F probably damaging Het
Shq1 T C 6: 100,631,006 T315A probably benign Het
Slc13a4 T C 6: 35,278,288 E355G probably benign Het
Slc26a9 T C 1: 131,759,437 S445P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc4a10 A T 2: 62,268,171 M550L probably benign Het
Syt17 T C 7: 118,409,974 D341G probably benign Het
Tmem62 A G 2: 120,996,512 Y430C probably benign Het
Upp1 A G 11: 9,125,650 probably benign Het
Vmn1r91 T G 7: 20,101,504 V116G probably damaging Het
Vmn2r101 A T 17: 19,589,701 I250F possibly damaging Het
Vmn2r116 T G 17: 23,397,627 probably benign Het
Vmn2r72 C T 7: 85,750,711 V377I probably benign Het
Zfp592 G T 7: 81,038,184 A953S probably benign Het
Other mutations in Gm11563
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Gm11563 APN 11 99658701 nonsense probably null
R0551:Gm11563 UTSW 11 99658713 missense unknown
R0584:Gm11563 UTSW 11 99658625 missense unknown
R0620:Gm11563 UTSW 11 99658437 missense unknown
R1246:Gm11563 UTSW 11 99658848 missense unknown
R4575:Gm11563 UTSW 11 99658449 missense unknown
R4745:Gm11563 UTSW 11 99658420 makesense probably null
R5279:Gm11563 UTSW 11 99658713 missense unknown
R6945:Gm11563 UTSW 11 99658472 missense unknown
Posted On2015-04-16