Incidental Mutation 'R5203:Akr1c13'
| ID |
398277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c13
|
| Ensembl Gene |
ENSMUSG00000021213 |
| Gene Name |
aldo-keto reductase family 1, member C13 |
| Synonyms |
|
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
4241166-4255603 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 4247896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 223
(R223*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021634]
[ENSMUST00000128892]
|
| AlphaFold |
Q8VC28 |
| PDB Structure |
Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021634
AA Change: R223*
|
| SMART Domains |
Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: R223*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
7.8e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140971
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
probably damaging |
Het |
|
| Other mutations in Akr1c13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Akr1c13
|
APN |
13 |
4,247,794 (GRCm39) |
splice site |
probably null |
|
|
IGL01553:Akr1c13
|
APN |
13 |
4,244,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01895:Akr1c13
|
APN |
13 |
4,255,372 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02029:Akr1c13
|
APN |
13 |
4,255,361 (GRCm39) |
nonsense |
probably null |
|
|
IGL02316:Akr1c13
|
APN |
13 |
4,253,458 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02949:Akr1c13
|
APN |
13 |
4,248,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0050:Akr1c13
|
UTSW |
13 |
4,244,669 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Akr1c13
|
UTSW |
13 |
4,244,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0470:Akr1c13
|
UTSW |
13 |
4,248,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Akr1c13
|
UTSW |
13 |
4,247,931 (GRCm39) |
splice site |
probably null |
|
|
R0791:Akr1c13
|
UTSW |
13 |
4,244,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Akr1c13
|
UTSW |
13 |
4,244,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Akr1c13
|
UTSW |
13 |
4,248,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Akr1c13
|
UTSW |
13 |
4,248,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Akr1c13
|
UTSW |
13 |
4,248,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5112:Akr1c13
|
UTSW |
13 |
4,244,151 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5149:Akr1c13
|
UTSW |
13 |
4,244,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5408:Akr1c13
|
UTSW |
13 |
4,244,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5776:Akr1c13
|
UTSW |
13 |
4,244,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Akr1c13
|
UTSW |
13 |
4,246,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7466:Akr1c13
|
UTSW |
13 |
4,242,436 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9080:Akr1c13
|
UTSW |
13 |
4,241,172 (GRCm39) |
unclassified |
probably benign |
|
|
X0020:Akr1c13
|
UTSW |
13 |
4,253,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCTCCCAAGTTAGTTCTTTTG -3'
(R):5'- TAGACAGCCCATTCTAGCCCAG -3'
Sequencing Primer
(F):5'- CCAAGTTAGTTCTTTTGTCCTTCAAG -3'
(R):5'- TGACGTGAGAAGACCCATTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation