Incidental Mutation 'R6656:Keg1'
| ID |
526642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Keg1
|
| Ensembl Gene |
ENSMUSG00000024694 |
| Gene Name |
kidney expressed gene 1 |
| Synonyms |
0610008P16Rik, GS4059 |
| MMRRC Submission |
044777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12673154-12697266 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 12686994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 8
(Q8*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025598]
[ENSMUST00000138545]
[ENSMUST00000154822]
|
| AlphaFold |
Q9DCY0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025598
AA Change: Q8*
|
| SMART Domains |
Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: Q8*
| 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: ENSMUST00000125496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128987
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138545
AA Change: Q8*
|
| SMART Domains |
Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: Q8*
| 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 |
noncoding transcript
Transcript: ENSMUST00000152017
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154822
AA Change: Q8*
|
| SMART Domains |
Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: Q8*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
| B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
| D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
| Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
| Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
| Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
| Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
| Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
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 |
|
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 |
|
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'- AGAGGCATTTTAAATAACTGCTGAC -3'
(R):5'- TAGACAGTGGAGAGCAGCACTC -3'
Sequencing Primer
(F):5'- ATATCTTGGGAAGCACTGCC -3'
(R):5'- GCACTCTGCTCCTTTAAAATACTAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation