Incidental Mutation 'BB012:Kti12'
ID |
642695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kti12
|
Ensembl Gene |
ENSMUSG00000073775 |
Gene Name |
KTI12 homolog, chromatin associated |
Synonyms |
1110001A12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
BB012
|
Quality Score |
225.009 |
Status
|
Not 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
probably benign |
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 |
108,705,443 (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 |
108,705,444 (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'- GGATTTCCTCTGGATCCAGTTC -3'
Sequencing Primer
(F):5'- ATGGATGCCCCTGGAGATCATG -3'
(R):5'- GGATCCAGTTCCTTTGAGACAGC -3'
|
Posted On |
2020-08-01 |