Incidental Mutation 'R7858:Kti12'
ID |
607331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kti12
|
Ensembl Gene |
ENSMUSG00000073775 |
Gene Name |
KTI12 homolog, chromatin associated |
Synonyms |
1110001A12Rik |
MMRRC Submission |
045911-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7858 (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 108705444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 119
(E119D)
|
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 benign
Transcript: ENSMUST00000102738
AA Change: E119D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099799 Gene: ENSMUSG00000073775 AA Change: E119D
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
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 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
R7859:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
R7859:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
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 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
R7916:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
R8099:Kti12
|
UTSW |
4 |
108,705,571 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAAGTTGACGCCAAACATCCG -3'
(R):5'- CTCTGGATCCAGTTCCTTTGAG -3'
Sequencing Primer
(F):5'- ATGGATGCCCCTGGAGATCATG -3'
(R):5'- GGATCCAGTTCCTTTGAGACAGC -3'
|
Posted On |
2019-12-20 |