Incidental Mutation 'R4002:Keg1'
| ID |
311328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Keg1
|
| Ensembl Gene |
ENSMUSG00000024694 |
| Gene Name |
kidney expressed gene 1 |
| Synonyms |
0610008P16Rik, GS4059 |
| MMRRC Submission |
041609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12673154-12697266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12696307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 164
(S164T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025598]
[ENSMUST00000138545]
[ENSMUST00000154822]
|
| AlphaFold |
Q9DCY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025598
AA Change: S217T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: S217T
| 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 |
possibly damaging
Transcript: ENSMUST00000138545
AA Change: S207T
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: S207T
| 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 |
possibly damaging
Transcript: ENSMUST00000154822
AA Change: S164T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: S164T
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,274,964 (GRCm39) |
N222K |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,535,415 (GRCm39) |
M4680L |
probably benign |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,104,179 (GRCm39) |
S1157P |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,629,479 (GRCm39) |
T63A |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,801,176 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,383,048 (GRCm39) |
L277I |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,093 (GRCm39) |
D431V |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,265 (GRCm39) |
S67G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,381,116 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,670,840 (GRCm39) |
T471S |
probably benign |
Het |
| Efcab8 |
A |
T |
2: 153,623,726 (GRCm39) |
K70N |
probably benign |
Het |
| Grcc10 |
A |
T |
6: 124,717,933 (GRCm39) |
M1K |
probably null |
Het |
| Higd2a |
G |
C |
13: 54,738,540 (GRCm39) |
C53S |
probably damaging |
Het |
| Kcna4 |
C |
T |
2: 107,126,259 (GRCm39) |
P331L |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,617,154 (GRCm39) |
V1031A |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,476,743 (GRCm39) |
T737I |
possibly damaging |
Het |
| Or10al7 |
G |
A |
17: 38,365,879 (GRCm39) |
L193F |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,449,202 (GRCm39) |
R8K |
probably benign |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,630 (GRCm39) |
M202V |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,826,822 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
C |
14: 50,599,984 (GRCm39) |
F657L |
probably benign |
Het |
| Ttf2 |
G |
A |
3: 100,855,541 (GRCm39) |
Q96* |
probably null |
Het |
| Ube2frt |
G |
A |
12: 36,140,635 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp810 |
C |
T |
9: 22,190,188 (GRCm39) |
C240Y |
probably damaging |
Het |
|
| Other mutations in Keg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Keg1
|
APN |
19 |
12,696,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTCAATAGTGACCAGCAG -3'
(R):5'- GTTCCACTGGTTCCAGGTAC -3'
Sequencing Primer
(F):5'- GACCAGCAGTTATTCAAATTTGCCTC -3'
(R):5'- ACTGGTTCCAGGTACAAGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation