Incidental Mutation 'IGL01071:Keg1'
| ID |
53228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Keg1
|
| Ensembl Gene |
ENSMUSG00000024694 |
| Gene Name |
kidney expressed gene 1 |
| Synonyms |
0610008P16Rik, GS4059 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12673154-12697266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12696364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 183
(Y183N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025598]
[ENSMUST00000138545]
[ENSMUST00000154822]
|
| AlphaFold |
Q9DCY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025598
AA Change: Y236N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: Y236N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
205 |
1.2e-89 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
206 |
294 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128987
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138545
AA Change: Y226N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: Y226N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
195 |
4.2e-96 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
196 |
228 |
4.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154822
AA Change: Y183N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: Y183N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
156 |
1.2e-71 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
153 |
221 |
3.2e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152017
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
| Other mutations in Keg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Keg1
|
APN |
19 |
12,691,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Keg1
|
APN |
19 |
12,696,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Keg1
|
APN |
19 |
12,696,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Keg1
|
UTSW |
19 |
12,696,280 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0103:Keg1
|
UTSW |
19 |
12,696,280 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0417:Keg1
|
UTSW |
19 |
12,688,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Keg1
|
UTSW |
19 |
12,696,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1476:Keg1
|
UTSW |
19 |
12,693,387 (GRCm39) |
missense |
probably benign |
|
|
R1482:Keg1
|
UTSW |
19 |
12,696,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Keg1
|
UTSW |
19 |
12,696,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4002:Keg1
|
UTSW |
19 |
12,696,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5022:Keg1
|
UTSW |
19 |
12,696,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Keg1
|
UTSW |
19 |
12,692,044 (GRCm39) |
intron |
probably benign |
|
|
R5386:Keg1
|
UTSW |
19 |
12,691,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Keg1
|
UTSW |
19 |
12,691,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6517:Keg1
|
UTSW |
19 |
12,693,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6656:Keg1
|
UTSW |
19 |
12,686,994 (GRCm39) |
nonsense |
probably null |
|
|
R7117:Keg1
|
UTSW |
19 |
12,687,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7676:Keg1
|
UTSW |
19 |
12,693,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7807:Keg1
|
UTSW |
19 |
12,691,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation