Incidental Mutation 'IGL02747:Kics2'
| ID |
306083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kics2
|
| Ensembl Gene |
ENSMUSG00000053684 |
| Gene Name |
KICSTOR subunit 2 |
| Synonyms |
BC048403 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121575835-121588770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121581455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 152
(Q152P)
|
| 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: Q152P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: Q152P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2003
|
7 |
444 |
3.8e-252 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136432
AA Change: Q16P
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: Q16P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2003
|
1 |
309 |
1.1e-205 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
| Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation