Incidental Mutation 'IGL03142:Kti12'
ID410709
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 #IGL03142
Quality Score
Status
Chromosome4
Chromosomal Location108847785-108849413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108848165 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 92 (Y92C)
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: Y92C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099799
Gene: ENSMUSG00000073775
AA Change: Y92C

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,947,198 S523G probably damaging Het
Ccnb1 A T 13: 100,783,531 D157E probably damaging Het
Cfap70 T C 14: 20,397,215 T1055A probably damaging Het
Fgfr1op T A 17: 8,192,209 S331R probably damaging Het
Fn1 C A 1: 71,637,296 R592L probably damaging Het
Frmpd4 T A X: 167,479,483 D550V possibly damaging Het
Gcm2 A G 13: 41,103,235 V346A probably benign Het
Gm10112 C T X: 111,168,350 T4I probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Has2 A T 15: 56,682,095 I37N possibly damaging Het
Hmgn3 A G 9: 83,146,429 probably benign Het
Klhl29 T A 12: 5,137,603 N254Y probably damaging Het
Mgat5 A C 1: 127,412,223 Q447P probably damaging Het
Mlh3 C A 12: 85,250,301 probably null Het
Mrpl45 T C 11: 97,315,925 W18R probably benign Het
Mtor A G 4: 148,453,899 D138G probably benign Het
Mycbp2 C T 14: 103,298,776 C246Y probably damaging Het
Mylk4 A T 13: 32,720,599 V415E probably damaging Het
Olfm3 A T 3: 115,097,030 Q124L probably damaging Het
Olfr1423 A T 19: 12,036,388 M118K probably damaging Het
Pam C T 1: 97,894,386 G298R probably damaging Het
Pappa2 A C 1: 158,854,931 I849R probably damaging Het
Pde3a T A 6: 141,492,299 D1031E probably benign Het
Pik3cb A T 9: 99,065,562 S521T probably benign Het
Pkn1 A G 8: 83,671,023 F824L possibly damaging Het
Pspn C T 17: 56,999,566 R121Q probably benign Het
Ric1 A G 19: 29,600,980 D1195G possibly damaging Het
Sin3b A G 8: 72,744,568 D381G probably damaging Het
Slc37a3 T C 6: 39,359,985 probably null Het
Smtn T A 11: 3,532,601 K124* probably null Het
Tbce A G 13: 14,019,864 V70A possibly damaging Het
Tmem251 G A 12: 102,744,674 S52N probably damaging Het
Tti1 A G 2: 158,000,677 Y811H probably damaging Het
Uggt2 T C 14: 118,998,191 Y1424C probably damaging Het
Upf1 A G 8: 70,333,327 V994A probably benign Het
Vmn2r121 T C X: 124,132,938 D174G possibly damaging Het
Other mutations in Kti12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Kti12 APN 4 108848162 missense probably damaging 1.00
IGL02891:Kti12 APN 4 108848533 missense probably benign
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
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 On2016-08-02