Incidental Mutation 'R6590:Akr1c14'
| ID |
524712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c14
|
| Ensembl Gene |
ENSMUSG00000033715 |
| Gene Name |
aldo-keto reductase family 1, member C14 |
| Synonyms |
9030611N15Rik |
| MMRRC Submission |
044714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4099015-4140569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4113713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 82
(T82S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041768]
[ENSMUST00000118717]
|
| AlphaFold |
Q91WT7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041768
AA Change: T82S
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045394
Gene: ENSMUSG00000033715
AA Change: T82S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.4e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118717
AA Change: T82S
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112664
Gene: ENSMUSG00000033715
AA Change: T82S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
8.1e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.5600 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
| Ccdc7b |
A |
G |
8: 129,904,700 (GRCm39) |
T113A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,356,606 (GRCm39) |
T105A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,523,449 (GRCm39) |
T267A |
probably benign |
Het |
| Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
| Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
| Mterf3 |
G |
A |
13: 67,065,110 (GRCm39) |
L264F |
probably damaging |
Het |
| Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
| Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
| Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
| Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,890,975 (GRCm39) |
T194A |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
probably damaging |
Het |
|
| Other mutations in Akr1c14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Akr1c14
|
APN |
13 |
4,131,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Akr1c14
|
APN |
13 |
4,128,035 (GRCm39) |
nonsense |
probably null |
|
|
IGL02201:Akr1c14
|
APN |
13 |
4,131,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Akr1c14
|
APN |
13 |
4,130,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03293:Akr1c14
|
APN |
13 |
4,129,130 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Akr1c14
|
UTSW |
13 |
4,129,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Akr1c14
|
UTSW |
13 |
4,131,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Akr1c14
|
UTSW |
13 |
4,131,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Akr1c14
|
UTSW |
13 |
4,115,338 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4812:Akr1c14
|
UTSW |
13 |
4,129,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Akr1c14
|
UTSW |
13 |
4,129,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Akr1c14
|
UTSW |
13 |
4,137,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Akr1c14
|
UTSW |
13 |
4,115,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6690:Akr1c14
|
UTSW |
13 |
4,113,713 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7033:Akr1c14
|
UTSW |
13 |
4,129,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7200:Akr1c14
|
UTSW |
13 |
4,131,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7257:Akr1c14
|
UTSW |
13 |
4,138,966 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7432:Akr1c14
|
UTSW |
13 |
4,138,952 (GRCm39) |
missense |
probably benign |
|
|
R7536:Akr1c14
|
UTSW |
13 |
4,113,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Akr1c14
|
UTSW |
13 |
4,109,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7941:Akr1c14
|
UTSW |
13 |
4,109,713 (GRCm39) |
missense |
probably benign |
|
|
R8292:Akr1c14
|
UTSW |
13 |
4,130,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8700:Akr1c14
|
UTSW |
13 |
4,131,157 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9135:Akr1c14
|
UTSW |
13 |
4,128,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Akr1c14
|
UTSW |
13 |
4,130,695 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9263:Akr1c14
|
UTSW |
13 |
4,113,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCTTTAGGTTCCTAAGGATG -3'
(R):5'- ATGGGTTCACTCGGCTTTCC -3'
Sequencing Primer
(F):5'- GTTCCTAAGGATGAACTTATCAAGGC -3'
(R):5'- TGGAAGTCATACGCTCTGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation