Incidental Mutation 'R2383:Kics2'
| ID |
247610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kics2
|
| Ensembl Gene |
ENSMUSG00000053684 |
| Gene Name |
KICSTOR subunit 2 |
| Synonyms |
BC048403 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2383 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
121575835-121588770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121586554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 290
(T290A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065600]
[ENSMUST00000136432]
|
| AlphaFold |
no structure available at present |
| PDB Structure |
X-ray structure of a hypothetical protein from Mouse Mm.209172 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065600
AA Change: T290A
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: T290A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2003
|
7 |
444 |
3.8e-252 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136432
AA Change: T154A
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2003
|
1 |
309 |
1.1e-205 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138630
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,488,393 (GRCm39) |
|
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,329,272 (GRCm39) |
D295E |
probably damaging |
Het |
| Or2f1b |
A |
T |
6: 42,739,393 (GRCm39) |
M136L |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
| Sla |
T |
A |
15: 66,654,525 (GRCm39) |
I254F |
probably damaging |
Het |
| Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,111,407 (GRCm39) |
V36A |
probably 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 |
|
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 |
|
R6487:Kics2
|
UTSW |
10 |
121,581,446 (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'- AGACCTTTGAGAAGCAGCG -3'
(R):5'- AACATTGGGCCAGTGCATG -3'
Sequencing Primer
(F):5'- CTTTGAGAAGCAGCGGGAGAC -3'
(R):5'- ATGACGGGCCTGTCACTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation