Incidental Mutation 'R3701:Akr1c19'
| ID |
258530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c19
|
| Ensembl Gene |
ENSMUSG00000071551 |
| Gene Name |
aldo-keto reductase family 1, member C19 |
| Synonyms |
1810010N06Rik |
| MMRRC Submission |
040694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3701 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4283499-4298360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4293032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 263
(R263C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081326]
[ENSMUST00000118663]
[ENSMUST00000129751]
|
| AlphaFold |
G3X9Y6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081326
AA Change: R263C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: R263C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.4e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118663
AA Change: R263C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: R263C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
9.9e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129751
|
| Meta Mutation Damage Score |
0.8166 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,003 (GRCm39) |
D62G |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,222,312 (GRCm39) |
T357A |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
| Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
| Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
| Fdxr |
A |
T |
11: 115,160,527 (GRCm39) |
L336Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,124 (GRCm39) |
T25A |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
| Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
| Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
| Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,939 (GRCm39) |
F964S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
| Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
probably damaging |
Het |
|
| Other mutations in Akr1c19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Akr1c19
|
APN |
13 |
4,298,128 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01522:Akr1c19
|
APN |
13 |
4,289,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL01625:Akr1c19
|
APN |
13 |
4,283,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Akr1c19
|
APN |
13 |
4,287,112 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Akr1c19
|
APN |
13 |
4,286,184 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03232:Akr1c19
|
APN |
13 |
4,288,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0504:Akr1c19
|
UTSW |
13 |
4,286,250 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0538:Akr1c19
|
UTSW |
13 |
4,287,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Akr1c19
|
UTSW |
13 |
4,288,459 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2068:Akr1c19
|
UTSW |
13 |
4,288,391 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3893:Akr1c19
|
UTSW |
13 |
4,288,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Akr1c19
|
UTSW |
13 |
4,283,779 (GRCm39) |
nonsense |
probably null |
|
|
R4434:Akr1c19
|
UTSW |
13 |
4,292,615 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5545:Akr1c19
|
UTSW |
13 |
4,292,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5584:Akr1c19
|
UTSW |
13 |
4,293,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:Akr1c19
|
UTSW |
13 |
4,283,757 (GRCm39) |
start gained |
probably benign |
|
|
R7286:Akr1c19
|
UTSW |
13 |
4,296,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Akr1c19
|
UTSW |
13 |
4,287,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7879:Akr1c19
|
UTSW |
13 |
4,286,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Akr1c19
|
UTSW |
13 |
4,292,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Akr1c19
|
UTSW |
13 |
4,293,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9248:Akr1c19
|
UTSW |
13 |
4,292,974 (GRCm39) |
missense |
probably benign |
|
|
R9447:Akr1c19
|
UTSW |
13 |
4,296,838 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTATGAGTTCAGAAGCCTC -3'
(R):5'- GCTGAATCCTAAATCTCTGTGCTC -3'
Sequencing Primer
(F):5'- TGAGTTCAGAAGCCTCCTAAAG -3'
(R):5'- GAGCACTTCTGAATGCAAATGAAGTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation