Incidental Mutation 'R1248:Akr1c20'
| ID |
152202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c20
|
| Ensembl Gene |
ENSMUSG00000054757 |
| Gene Name |
aldo-keto reductase family 1, member C20 |
| Synonyms |
2610528B18Rik |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4536848-4573344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4564399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 38
(T38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078239]
[ENSMUST00000080361]
|
| AlphaFold |
Q8VC77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078239
AA Change: T38I
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: T38I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
98 |
4.7e-12 |
PFAM |
|
Pfam:Aldo_ket_red
|
87 |
260 |
6e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080361
AA Change: T38I
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: T38I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.8e-55 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221564
AA Change: T37I
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
probably damaging |
Het |
|
| Other mutations in Akr1c20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Akr1c20
|
APN |
13 |
4,562,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01799:Akr1c20
|
APN |
13 |
4,564,257 (GRCm39) |
splice site |
probably null |
|
|
IGL01930:Akr1c20
|
APN |
13 |
4,557,647 (GRCm39) |
intron |
probably benign |
|
|
IGL02277:Akr1c20
|
APN |
13 |
4,564,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02811:Akr1c20
|
APN |
13 |
4,562,682 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03349:Akr1c20
|
APN |
13 |
4,558,249 (GRCm39) |
nonsense |
probably null |
|
|
R0165:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0193:Akr1c20
|
UTSW |
13 |
4,561,292 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1396:Akr1c20
|
UTSW |
13 |
4,557,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2325:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2359:Akr1c20
|
UTSW |
13 |
4,573,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2878:Akr1c20
|
UTSW |
13 |
4,557,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Akr1c20
|
UTSW |
13 |
4,558,174 (GRCm39) |
nonsense |
probably null |
|
|
R5301:Akr1c20
|
UTSW |
13 |
4,573,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Akr1c20
|
UTSW |
13 |
4,561,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7661:Akr1c20
|
UTSW |
13 |
4,558,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Akr1c20
|
UTSW |
13 |
4,562,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Akr1c20
|
UTSW |
13 |
4,561,215 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9764:Akr1c20
|
UTSW |
13 |
4,564,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Akr1c20
|
UTSW |
13 |
4,573,243 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTTTAGTTCCCCAAACTTCACCGAC -3'
(R):5'- AGGGAAAGATCCAGACAAACTTGATTGC -3'
Sequencing Primer
(F):5'- TCCCCAAACTTCACCGACTTAATC -3'
(R):5'- GCATTCTTCACTGCAAATGAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation