Incidental Mutation 'R1188:Prkag1'
| ID |
102392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkag1
|
| Ensembl Gene |
ENSMUSG00000067713 |
| Gene Name |
protein kinase, AMP-activated, gamma 1 non-catalytic subunit |
| Synonyms |
Prkaac |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98710678-98729354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98712479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 118
(I118F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168846]
[ENSMUST00000229297]
[ENSMUST00000230560]
|
| AlphaFold |
O54950 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168846
AA Change: I149F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: I149F
| Domain | Start | End | E-Value | Type |
|---|
|
CBS
|
46 |
95 |
8.18e-7 |
SMART |
|
CBS
|
127 |
176 |
3.12e-12 |
SMART |
|
CBS
|
202 |
250 |
1.01e-11 |
SMART |
|
CBS
|
274 |
322 |
2.11e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181510
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229297
AA Change: I118F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230113
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230560
AA Change: I118F
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hemolytic anemia, extramedullary hematopoiesis, and iron accumulation in the spleen, liver, and Kupffer cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Prkag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01932:Prkag1
|
APN |
15 |
98,712,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02621:Prkag1
|
APN |
15 |
98,711,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Prkag1
|
APN |
15 |
98,713,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03197:Prkag1
|
APN |
15 |
98,713,058 (GRCm39) |
splice site |
probably benign |
|
|
R0328:Prkag1
|
UTSW |
15 |
98,713,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Prkag1
|
UTSW |
15 |
98,711,551 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1663:Prkag1
|
UTSW |
15 |
98,713,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Prkag1
|
UTSW |
15 |
98,712,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Prkag1
|
UTSW |
15 |
98,713,827 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5037:Prkag1
|
UTSW |
15 |
98,713,768 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5175:Prkag1
|
UTSW |
15 |
98,713,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5597:Prkag1
|
UTSW |
15 |
98,713,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Prkag1
|
UTSW |
15 |
98,723,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6359:Prkag1
|
UTSW |
15 |
98,712,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Prkag1
|
UTSW |
15 |
98,712,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Prkag1
|
UTSW |
15 |
98,712,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Prkag1
|
UTSW |
15 |
98,713,425 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8922:Prkag1
|
UTSW |
15 |
98,712,147 (GRCm39) |
missense |
probably benign |
|
|
R9163:Prkag1
|
UTSW |
15 |
98,711,900 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTACAAAGATGCCCAGAGCC -3'
(R):5'- AGTTACCAGTTCATGCCCAGCCAC -3'
Sequencing Primer
(F):5'- GACTTAGACATGAATTCCGGC -3'
(R):5'- tgcccagccacacacag -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation