Incidental Mutation 'IGL03142:Kti12'
ID |
410709 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kti12
|
Ensembl Gene |
ENSMUSG00000073775 |
Gene Name |
KTI12 homolog, chromatin associated |
Synonyms |
1110001A12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03142
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
108705054-108706609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108705362 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
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: Y92C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099799 Gene: ENSMUSG00000073775 AA Change: Y92C
Domain | Start | End | E-Value | Type |
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
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc88c |
T |
C |
12: 100,913,457 (GRCm39) |
S523G |
probably damaging |
Het |
Ccnb1 |
A |
T |
13: 100,920,039 (GRCm39) |
D157E |
probably damaging |
Het |
Cep43 |
T |
A |
17: 8,411,041 (GRCm39) |
S331R |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,447,283 (GRCm39) |
T1055A |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,676,455 (GRCm39) |
R592L |
probably damaging |
Het |
Frmpd4 |
T |
A |
X: 166,262,479 (GRCm39) |
D550V |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,711 (GRCm39) |
V346A |
probably benign |
Het |
Gm10112 |
C |
T |
X: 110,209,673 (GRCm39) |
T4I |
probably damaging |
Het |
Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
Has2 |
A |
T |
15: 56,545,491 (GRCm39) |
I37N |
possibly damaging |
Het |
Hmgn3 |
A |
G |
9: 83,028,482 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,187,603 (GRCm39) |
N254Y |
probably damaging |
Het |
Lyset |
G |
A |
12: 102,710,933 (GRCm39) |
S52N |
probably damaging |
Het |
Mgat5 |
A |
C |
1: 127,339,960 (GRCm39) |
Q447P |
probably damaging |
Het |
Mlh3 |
C |
A |
12: 85,297,075 (GRCm39) |
|
probably null |
Het |
Mrpl45 |
T |
C |
11: 97,206,751 (GRCm39) |
W18R |
probably benign |
Het |
Mtor |
A |
G |
4: 148,538,356 (GRCm39) |
D138G |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,536,212 (GRCm39) |
C246Y |
probably damaging |
Het |
Mylk4 |
A |
T |
13: 32,904,582 (GRCm39) |
V415E |
probably damaging |
Het |
Olfm3 |
A |
T |
3: 114,890,679 (GRCm39) |
Q124L |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,752 (GRCm39) |
M118K |
probably damaging |
Het |
Pam |
C |
T |
1: 97,822,111 (GRCm39) |
G298R |
probably damaging |
Het |
Pappa2 |
A |
C |
1: 158,682,501 (GRCm39) |
I849R |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,438,025 (GRCm39) |
D1031E |
probably benign |
Het |
Pik3cb |
A |
T |
9: 98,947,615 (GRCm39) |
S521T |
probably benign |
Het |
Pkn1 |
A |
G |
8: 84,397,652 (GRCm39) |
F824L |
possibly damaging |
Het |
Pspn |
C |
T |
17: 57,306,566 (GRCm39) |
R121Q |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,578,380 (GRCm39) |
D1195G |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,471,196 (GRCm39) |
D381G |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,336,919 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,482,601 (GRCm39) |
K124* |
probably null |
Het |
Tbce |
A |
G |
13: 14,194,449 (GRCm39) |
V70A |
possibly damaging |
Het |
Tti1 |
A |
G |
2: 157,842,597 (GRCm39) |
Y811H |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,235,603 (GRCm39) |
Y1424C |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,785,977 (GRCm39) |
V994A |
probably benign |
Het |
Vmn2r121 |
T |
C |
X: 123,042,635 (GRCm39) |
D174G |
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 |
|
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 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
R7859:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
R7914:Kti12
|
UTSW |
4 |
108,705,443 (GRCm39) |
missense |
probably benign |
|
R7914:Kti12
|
UTSW |
4 |
108,705,444 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
Posted On |
2016-08-02 |