Incidental Mutation 'R8099:Kti12'
ID 630383
Institutional Source Beutler Lab
Gene Symbol Kti12
Ensembl Gene ENSMUSG00000073775
Gene Name KTI12 homolog, chromatin associated
Synonyms 1110001A12Rik
MMRRC Submission 067531-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8099 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108705054-108706609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108705571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 162 (G162W)
Ref Sequence ENSEMBL: ENSMUSP00000099799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030296] [ENSMUST00000102738] [ENSMUST00000164855]
AlphaFold Q9D1R2
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: G162W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099799
Gene: ENSMUSG00000073775
AA Change: G162W

DomainStartEndE-ValueType
Pfam:KTI12 1 347 3.3e-107 PFAM
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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T C 14: 70,394,969 (GRCm39) R62G probably benign Het
Abcb9 A G 5: 124,215,308 (GRCm39) F478L probably benign Het
Abcc9 A T 6: 142,621,257 (GRCm39) N494K probably damaging Het
Atp11a T G 8: 12,911,973 (GRCm39) M124R Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc110 T A 8: 46,395,130 (GRCm39) H340Q probably damaging Het
Celsr1 A G 15: 85,915,801 (GRCm39) L724P probably damaging Het
Cfap74 A G 4: 155,539,489 (GRCm39) N938S unknown Het
Chil3 T G 3: 106,055,984 (GRCm39) D363A probably damaging Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Cpne3 A G 4: 19,525,169 (GRCm39) V442A possibly damaging Het
Ctsh T C 9: 89,946,300 (GRCm39) V130A probably damaging Het
Cyp3a44 T C 5: 145,725,212 (GRCm39) K330E probably benign Het
Dgcr2 A T 16: 17,667,633 (GRCm39) D275E probably damaging Het
Dnah1 A T 14: 31,024,321 (GRCm39) D919E probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Entrep3 T C 3: 89,091,250 (GRCm39) F74L probably damaging Het
Epb41l3 T A 17: 69,554,683 (GRCm39) F261Y possibly damaging Het
Fbxo3 A C 2: 103,885,280 (GRCm39) H383P probably damaging Het
Foxp1 C T 6: 98,922,510 (GRCm39) V441M unknown Het
Gm29106 C T 1: 118,126,521 (GRCm39) S71F probably benign Het
Golga3 T A 5: 110,336,573 (GRCm39) L364* probably null Het
H1f1 C T 13: 23,947,832 (GRCm39) L45F probably damaging Het
Herc1 T A 9: 66,279,422 (GRCm39) L110H probably damaging Het
Igkv4-53 A T 6: 69,625,898 (GRCm39) S90T possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama3 T A 18: 12,667,120 (GRCm39) I763N probably damaging Het
Macf1 A T 4: 123,369,922 (GRCm39) I1613K probably benign Het
Mkrn1 T C 6: 39,387,031 (GRCm39) D102G probably benign Het
Muc2 T A 7: 141,299,175 (GRCm39) probably null Het
Nipal4 T C 11: 46,052,848 (GRCm39) E39G probably benign Het
Nr1h2 T C 7: 44,199,746 (GRCm39) Y391C possibly damaging Het
Odam T C 5: 88,040,299 (GRCm39) I255T possibly damaging Het
Or11m3 A G 15: 98,395,694 (GRCm39) M114V probably benign Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Per3 A T 4: 151,097,014 (GRCm39) M837K possibly damaging Het
Pitpnm3 T A 11: 71,961,144 (GRCm39) H357L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb1 T C 2: 135,093,654 (GRCm39) Y156H possibly damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prrc2b T C 2: 32,098,686 (GRCm39) V666A probably benign Het
Ptpn3 A T 4: 57,204,985 (GRCm39) C725* probably null Het
Rapgefl1 T C 11: 98,738,209 (GRCm39) W437R probably damaging Het
Sema4g T C 19: 44,980,967 (GRCm39) L5P probably damaging Het
Sipa1l1 C T 12: 82,480,600 (GRCm39) P1529L probably benign Het
Slc12a2 T C 18: 58,032,464 (GRCm39) L388P probably damaging Het
Sltm T A 9: 70,493,360 (GRCm39) S786T probably damaging Het
Srsf1 T C 11: 87,940,082 (GRCm39) I198T probably benign Het
Ssh2 C T 11: 77,345,755 (GRCm39) R1247* probably null Het
Ssu2 T C 6: 112,353,438 (GRCm39) T229A probably benign Het
Stra6 T A 9: 58,059,777 (GRCm39) H579Q probably damaging Het
Tanc2 T A 11: 105,754,833 (GRCm39) V559E probably benign Het
Trp53bp1 A G 2: 121,030,230 (GRCm39) Y1762H probably damaging Het
Usp15 T C 10: 122,982,826 (GRCm39) Y263C possibly damaging Het
Usp17ld A T 7: 102,899,495 (GRCm39) V479E probably damaging Het
Vmn2r15 A T 5: 109,441,185 (GRCm39) S224R possibly damaging Het
Vmn2r8 A T 5: 108,949,700 (GRCm39) N382K probably benign Het
Vmn2r94 T C 17: 18,477,659 (GRCm39) I251V probably benign Het
Wnt2b A T 3: 104,854,408 (GRCm39) V350D possibly damaging Het
Other mutations in Kti12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Kti12 APN 4 108,705,359 (GRCm39) missense probably damaging 1.00
IGL02891:Kti12 APN 4 108,705,730 (GRCm39) missense probably benign
IGL03142:Kti12 APN 4 108,705,362 (GRCm39) missense probably damaging 1.00
BB002:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB002:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB003:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB003:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB004:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB004:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB006:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB006:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB012:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB012:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB013:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB013:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB014:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB014:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
BB016:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
BB016:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R0518:Kti12 UTSW 4 108,705,776 (GRCm39) missense possibly damaging 0.95
R1681:Kti12 UTSW 4 108,706,055 (GRCm39) missense probably damaging 1.00
R5510:Kti12 UTSW 4 108,705,821 (GRCm39) missense probably damaging 1.00
R5522:Kti12 UTSW 4 108,705,620 (GRCm39) missense possibly damaging 0.58
R6652:Kti12 UTSW 4 108,705,730 (GRCm39) missense probably benign 0.00
R6774:Kti12 UTSW 4 108,705,652 (GRCm39) missense probably benign 0.12
R7123:Kti12 UTSW 4 108,705,679 (GRCm39) missense probably benign 0.00
R7856:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7856:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7858:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7858:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7859:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7859:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7914:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7914:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7915:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7915:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7916:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7916:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7917:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7917:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7918:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7918:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7925:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7925:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7926:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7926:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7927:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7927:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R7929:Kti12 UTSW 4 108,705,444 (GRCm39) missense probably benign 0.00
R7929:Kti12 UTSW 4 108,705,443 (GRCm39) missense probably benign
R9516:Kti12 UTSW 4 108,705,476 (GRCm39) missense probably benign 0.00
R9567:Kti12 UTSW 4 108,705,935 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGCTTACTTTACTGCGTGCG -3'
(R):5'- GGCAATGGCTCTTCTAAACCCAC -3'

Sequencing Primer
(F):5'- TGTCAGCGTGAGCTGGAGA -3'
(R):5'- CAGTGAACAAGGGGCGATCC -3'
Posted On 2020-06-30