Incidental Mutation 'R1069:Akr1c21'
| ID |
86136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c21
|
| Ensembl Gene |
ENSMUSG00000021207 |
| Gene Name |
aldo-keto reductase family 1, member C21 |
| Synonyms |
9430025F20Rik |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4624074-4636540 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 4625333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021628]
[ENSMUST00000223285]
|
| AlphaFold |
Q91WR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021628
|
| SMART Domains |
Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223285
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Akr1c21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Akr1c21
|
APN |
13 |
4,626,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01093:Akr1c21
|
APN |
13 |
4,631,139 (GRCm39) |
splice site |
probably benign |
|
|
IGL01408:Akr1c21
|
APN |
13 |
4,627,431 (GRCm39) |
missense |
probably benign |
|
|
IGL02470:Akr1c21
|
APN |
13 |
4,627,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Akr1c21
|
APN |
13 |
4,626,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Akr1c21
|
APN |
13 |
4,630,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Akr1c21
|
APN |
13 |
4,627,457 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03365:Akr1c21
|
APN |
13 |
4,633,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0166:Akr1c21
|
UTSW |
13 |
4,631,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Akr1c21
|
UTSW |
13 |
4,631,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Akr1c21
|
UTSW |
13 |
4,626,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Akr1c21
|
UTSW |
13 |
4,633,836 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1617:Akr1c21
|
UTSW |
13 |
4,626,351 (GRCm39) |
splice site |
probably null |
|
|
R1686:Akr1c21
|
UTSW |
13 |
4,627,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Akr1c21
|
UTSW |
13 |
4,625,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1753:Akr1c21
|
UTSW |
13 |
4,627,134 (GRCm39) |
nonsense |
probably null |
|
|
R1977:Akr1c21
|
UTSW |
13 |
4,624,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Akr1c21
|
UTSW |
13 |
4,624,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Akr1c21
|
UTSW |
13 |
4,626,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2198:Akr1c21
|
UTSW |
13 |
4,627,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Akr1c21
|
UTSW |
13 |
4,626,349 (GRCm39) |
splice site |
probably null |
|
|
R4965:Akr1c21
|
UTSW |
13 |
4,630,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Akr1c21
|
UTSW |
13 |
4,625,231 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6381:Akr1c21
|
UTSW |
13 |
4,624,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Akr1c21
|
UTSW |
13 |
4,627,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Akr1c21
|
UTSW |
13 |
4,625,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Akr1c21
|
UTSW |
13 |
4,633,850 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7253:Akr1c21
|
UTSW |
13 |
4,627,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Akr1c21
|
UTSW |
13 |
4,626,318 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8389:Akr1c21
|
UTSW |
13 |
4,626,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8391:Akr1c21
|
UTSW |
13 |
4,626,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATTGACTCACTCTTGTTACCCCAT -3'
(R):5'- AGACTTCTCTTTCCCATAGTCCGGTTTA -3'
Sequencing Primer
(F):5'- CAGAGAAGGTCATATTTTGTGCCTC -3'
(R):5'- CATAGTCCGGTTTACATCATATTGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation