Incidental Mutation 'R6487:Kics2'
ID |
517482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kics2
|
Ensembl Gene |
ENSMUSG00000053684 |
Gene Name |
KICSTOR subunit 2 |
Synonyms |
BC048403 |
MMRRC Submission |
044619-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R6487 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121575835-121588770 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121581446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 13
(L13P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065600]
[ENSMUST00000136432]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065600
AA Change: L149P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070834 Gene: ENSMUSG00000053684 AA Change: L149P
Domain | Start | End | E-Value | Type |
Pfam:DUF2003
|
7 |
444 |
3.8e-252 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136432
AA Change: L13P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117249 Gene: ENSMUSG00000053684 AA Change: L13P
Domain | Start | End | E-Value | Type |
Pfam:DUF2003
|
1 |
309 |
1.1e-205 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly damaging |
Het |
|
Other mutations in Kics2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02164:Kics2
|
APN |
10 |
121,586,675 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02598:Kics2
|
APN |
10 |
121,575,876 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02747:Kics2
|
APN |
10 |
121,581,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0381:Kics2
|
UTSW |
10 |
121,581,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R0732:Kics2
|
UTSW |
10 |
121,586,852 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2383:Kics2
|
UTSW |
10 |
121,586,554 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4299:Kics2
|
UTSW |
10 |
121,581,351 (GRCm39) |
missense |
probably benign |
0.01 |
R4760:Kics2
|
UTSW |
10 |
121,575,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Kics2
|
UTSW |
10 |
121,576,052 (GRCm39) |
start gained |
probably benign |
|
R6184:Kics2
|
UTSW |
10 |
121,586,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Kics2
|
UTSW |
10 |
121,581,371 (GRCm39) |
missense |
probably damaging |
0.98 |
R7094:Kics2
|
UTSW |
10 |
121,576,098 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7250:Kics2
|
UTSW |
10 |
121,581,376 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8186:Kics2
|
UTSW |
10 |
121,581,247 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8554:Kics2
|
UTSW |
10 |
121,575,960 (GRCm39) |
missense |
probably benign |
|
R9005:Kics2
|
UTSW |
10 |
121,586,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Kics2
|
UTSW |
10 |
121,586,416 (GRCm39) |
nonsense |
probably null |
|
R9245:Kics2
|
UTSW |
10 |
121,586,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATTTGCTTCCCAGGG -3'
(R):5'- AAAGTGGAGTACAGGGTCCC -3'
Sequencing Primer
(F):5'- GTCATTCTTCAGCAGGAAAGACTC -3'
(R):5'- CAGGGAGGCCTTCCTAAGAG -3'
|
Posted On |
2018-05-21 |