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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:KTI12
|
1 |
347 |
3.3e-107 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164855
|
SMART Domains |
Protein: ENSMUSP00000128780 Gene: ENSMUSG00000090551
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |