Incidental Mutation 'R6517:Keg1'
| ID |
520836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Keg1
|
| Ensembl Gene |
ENSMUSG00000024694 |
| Gene Name |
kidney expressed gene 1 |
| Synonyms |
0610008P16Rik, GS4059 |
| MMRRC Submission |
044644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12673154-12697266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12693274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 99
(D99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025598]
[ENSMUST00000138545]
[ENSMUST00000154822]
|
| AlphaFold |
Q9DCY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025598
AA Change: D109G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: D109G
| 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 benign
Transcript: ENSMUST00000138545
AA Change: D99G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: D99G
| 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 benign
Transcript: ENSMUST00000154822
AA Change: D99G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: D99G
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
| Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
| Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
| Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,509 (GRCm39) |
N541D |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
| Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
| Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
| Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,114,365 (GRCm39) |
S321P |
probably benign |
Het |
| Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,879,473 (GRCm39) |
H365R |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
| Taf1c |
T |
G |
8: 120,330,986 (GRCm39) |
N44T |
possibly damaging |
Het |
| Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
| Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
probably benign |
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 |
|
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 |
|
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'- CAGGCTTTGTGAACCATCCAAAAC -3'
(R):5'- GAATCCTTCAGATCAGCTTTGTTC -3'
Sequencing Primer
(F):5'- CCTGTCATGATGTAACACAAG -3'
(R):5'- TGTTCACACTTACAGAGGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation