Incidental Mutation 'IGL02608:Kti12'
ID300355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kti12
Ensembl Gene ENSMUSG00000073775
Gene NameKTI12 homolog, chromatin associated
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02608
Quality Score
Status
Chromosome4
Chromosomal Location108847785-108849413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 108848162 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 91 (L91R)
Ref Sequence ENSEMBL: ENSMUSP00000099799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030296] [ENSMUST00000102738] [ENSMUST00000164855]
Predicted Effect probably benign
Transcript: ENSMUST00000030296
SMART Domains Protein: ENSMUSP00000030296
Gene: ENSMUSG00000028567

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:Thioredoxin_7 37 118 1.1e-19 PFAM
Pfam:Thioredoxin 41 135 1.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102738
AA Change: L91R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099799
Gene: ENSMUSG00000073775
AA Change: L91R

DomainStartEndE-ValueType
Pfam:KTI12 1 347 3.3e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147581
Predicted Effect probably benign
Transcript: ENSMUST00000164855
SMART Domains Protein: ENSMUSP00000128780
Gene: ENSMUSG00000090551

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
low complexity region 47 64 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,339,192 M415L probably benign Het
Akap6 T C 12: 53,010,606 S952P probably benign Het
Aldh3a1 A G 11: 61,216,321 R284G probably damaging Het
Aldh3b1 G T 19: 3,914,061 H414N probably damaging Het
Chd5 G A 4: 152,356,107 M141I possibly damaging Het
Cntn2 C T 1: 132,525,916 A340T possibly damaging Het
Daw1 T A 1: 83,209,334 C288* probably null Het
Dcn A G 10: 97,483,457 E32G probably damaging Het
Dock5 C T 14: 67,828,439 V372M probably benign Het
Etf1 T C 18: 34,931,617 E13G probably damaging Het
Filip1l A G 16: 57,572,106 E781G probably benign Het
Gm8989 T A 7: 106,329,669 noncoding transcript Het
Gucy1a2 A G 9: 3,635,113 I386V probably damaging Het
Hoxb5 T A 11: 96,305,143 probably benign Het
Iqch T A 9: 63,421,828 probably benign Het
Itgal C T 7: 127,310,244 P423S probably damaging Het
Lgals3 T C 14: 47,385,601 M239T probably benign Het
Lrrc8a T C 2: 30,256,299 M375T possibly damaging Het
Ly75 T C 2: 60,321,900 E1103G probably benign Het
Lyst A T 13: 13,712,754 E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 probably benign Het
Ncor1 G A 11: 62,373,214 T180I probably benign Het
Nectin4 T C 1: 171,384,773 V313A probably benign Het
Nol4l A G 2: 153,436,293 S8P possibly damaging Het
Npas2 T A 1: 39,345,446 S607T probably benign Het
Nup155 T A 15: 8,109,471 M9K probably benign Het
Nwd1 T C 8: 72,667,375 L422P probably damaging Het
Olfr114 T A 17: 37,590,219 I45F probably damaging Het
Papola G T 12: 105,809,559 G245C probably damaging Het
Pcdhb6 T C 18: 37,334,694 S223P probably damaging Het
Pdcd4 T C 19: 53,927,207 probably null Het
Pigg T C 5: 108,313,003 F27L probably damaging Het
Prpf40a A T 2: 53,146,153 M588K probably damaging Het
Psme4 A G 11: 30,820,944 N764S probably benign Het
Ptar1 A C 19: 23,705,712 E110A possibly damaging Het
Rbm12 A T 2: 156,095,898 probably benign Het
Rfx7 A G 9: 72,617,294 T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 noncoding transcript Het
Rpp38 T C 2: 3,329,161 T235A probably benign Het
Sbno2 A T 10: 80,067,402 probably null Het
Scn3a A T 2: 65,524,166 C337* probably null Het
Sec61a2 T C 2: 5,874,262 T312A probably benign Het
Snrpg C A 6: 86,376,568 D43E probably damaging Het
Stag1 A T 9: 100,757,769 Q126L probably null Het
Taar6 A G 10: 23,985,183 V155A probably benign Het
Tet1 G A 10: 62,879,609 H136Y possibly damaging Het
Tet1 C A 10: 62,839,087 S1070I probably damaging Het
Tfcp2 T C 15: 100,514,110 T327A possibly damaging Het
Tnfrsf13c C T 15: 82,223,163 V144M probably damaging Het
Tnfrsf22 T A 7: 143,644,796 K61* probably null Het
Trhr T C 15: 44,197,678 V198A probably benign Het
Trp53inp2 A G 2: 155,386,649 R175G probably damaging Het
Try10 G A 6: 41,355,487 G26R probably damaging Het
Vmn1r205 A G 13: 22,592,200 V244A probably damaging Het
Wrnip1 T A 13: 32,806,874 L372H probably damaging Het
Zfp280d T A 9: 72,307,979 L149Q probably damaging Het
Zfp445 A G 9: 122,861,875 V85A probably damaging Het
Other mutations in Kti12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02891:Kti12 APN 4 108848533 missense probably benign
IGL03142:Kti12 APN 4 108848165 missense probably damaging 1.00
BB002:Kti12 UTSW 4 108848246 missense probably benign
BB002:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB003:Kti12 UTSW 4 108848246 missense probably benign
BB003:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB004:Kti12 UTSW 4 108848246 missense probably benign
BB004:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB006:Kti12 UTSW 4 108848246 missense probably benign
BB006:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB012:Kti12 UTSW 4 108848246 missense probably benign
BB012:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB013:Kti12 UTSW 4 108848246 missense probably benign
BB013:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB014:Kti12 UTSW 4 108848246 missense probably benign
BB014:Kti12 UTSW 4 108848247 missense probably benign 0.00
BB016:Kti12 UTSW 4 108848246 missense probably benign
BB016:Kti12 UTSW 4 108848247 missense probably benign 0.00
R0518:Kti12 UTSW 4 108848579 missense possibly damaging 0.95
R1681:Kti12 UTSW 4 108848858 missense probably damaging 1.00
R5510:Kti12 UTSW 4 108848624 missense probably damaging 1.00
R5522:Kti12 UTSW 4 108848423 missense possibly damaging 0.58
R6652:Kti12 UTSW 4 108848533 missense probably benign 0.00
R6774:Kti12 UTSW 4 108848455 missense probably benign 0.12
R7123:Kti12 UTSW 4 108848482 missense probably benign 0.00
R7856:Kti12 UTSW 4 108848246 missense probably benign
R7856:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7858:Kti12 UTSW 4 108848246 missense probably benign
R7858:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7859:Kti12 UTSW 4 108848246 missense probably benign
R7859:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7914:Kti12 UTSW 4 108848246 missense probably benign
R7914:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7915:Kti12 UTSW 4 108848246 missense probably benign
R7915:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7916:Kti12 UTSW 4 108848246 missense probably benign
R7916:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7917:Kti12 UTSW 4 108848246 missense probably benign
R7917:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7918:Kti12 UTSW 4 108848246 missense probably benign
R7918:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7925:Kti12 UTSW 4 108848246 missense probably benign
R7925:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7926:Kti12 UTSW 4 108848246 missense probably benign
R7926:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7927:Kti12 UTSW 4 108848246 missense probably benign
R7927:Kti12 UTSW 4 108848247 missense probably benign 0.00
R7929:Kti12 UTSW 4 108848246 missense probably benign
R7929:Kti12 UTSW 4 108848247 missense probably benign 0.00
R8099:Kti12 UTSW 4 108848374 missense probably damaging 1.00
Posted On2015-04-16