Incidental Mutation 'R6469:Akr1c13'
ID |
520286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akr1c13
|
Ensembl Gene |
ENSMUSG00000021213 |
Gene Name |
aldo-keto reductase family 1, member C13 |
Synonyms |
|
MMRRC Submission |
044602-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
4241166-4255603 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 4246511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000021634 Gene: ENSMUSG00000021213
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: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
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 |
R5203:Akr1c13
|
UTSW |
13 |
4,247,896 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- ATGCCTCACTCACTAATGGC -3'
(R):5'- ATATGACTCCTGTCCTGGGC -3'
Sequencing Primer
(F):5'- AGGGCTTAATCACTGAACTATCTCTC -3'
(R):5'- GTCCTGGGCCCTTCGTCATC -3'
|
Posted On |
2018-06-06 |