Incidental Mutation 'R7578:Perm1'
| ID |
586564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
045663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7578 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT to TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT
at 156302525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
| AlphaFold |
Q149B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105571
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
96 |
192 |
4.6e-4 |
SMART |
|
PH
|
227 |
324 |
8.34e-2 |
SMART |
|
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105572
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
806 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,120,343 (GRCm39) |
V165E |
probably damaging |
Het |
| 1700025G04Rik |
T |
G |
1: 151,796,841 (GRCm39) |
T75P |
probably benign |
Het |
| 4930516K23Rik |
T |
C |
7: 103,708,104 (GRCm39) |
E235G |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,251,499 (GRCm39) |
C449R |
probably damaging |
Het |
| Adam24 |
T |
C |
8: 41,133,294 (GRCm39) |
V254A |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Aldh1a1 |
A |
C |
19: 20,595,366 (GRCm39) |
R98S |
probably damaging |
Het |
| Alg9 |
A |
G |
9: 50,700,835 (GRCm39) |
I202V |
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,885,789 (GRCm39) |
E162K |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,128 (GRCm39) |
T268A |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,720,834 (GRCm39) |
V354I |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,896 (GRCm39) |
T204A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,544 (GRCm39) |
I746K |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,243,186 (GRCm39) |
T1063M |
probably benign |
Het |
| Cherp |
G |
A |
8: 73,218,102 (GRCm39) |
R543C |
|
Het |
| Cldn20 |
A |
G |
17: 3,583,274 (GRCm39) |
D149G |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,083,807 (GRCm39) |
Q474R |
probably benign |
Het |
| Cp |
A |
G |
3: 20,043,262 (GRCm39) |
T1017A |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,499,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,915,261 (GRCm39) |
V93M |
probably damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,787,328 (GRCm39) |
M183L |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,573,205 (GRCm39) |
L915I |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,333,645 (GRCm39) |
E146G |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,293 (GRCm39) |
S283G |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,832,296 (GRCm39) |
Y1543F |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,275 (GRCm39) |
|
probably null |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gjd3 |
A |
G |
11: 98,873,301 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm49368 |
T |
A |
7: 127,711,430 (GRCm39) |
C711* |
probably null |
Het |
| Gtf3c2 |
A |
G |
5: 31,330,341 (GRCm39) |
S210P |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,784,548 (GRCm39) |
Y1404C |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,507,372 (GRCm39) |
D128E |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,578,219 (GRCm39) |
D113E |
probably benign |
Het |
| Kcnd3 |
A |
G |
3: 105,366,933 (GRCm39) |
M268V |
probably benign |
Het |
| Kirrel3 |
G |
T |
9: 34,850,408 (GRCm39) |
G19V |
probably damaging |
Het |
| Klf17 |
T |
G |
4: 117,617,916 (GRCm39) |
Y147S |
possibly damaging |
Het |
| Leng1 |
C |
T |
7: 3,668,382 (GRCm39) |
R22H |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,876,037 (GRCm39) |
Y233* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,525,832 (GRCm39) |
V96A |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,644 (GRCm39) |
T797A |
possibly damaging |
Het |
| Nuf2 |
G |
T |
1: 169,332,097 (GRCm39) |
H399Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,623 (GRCm39) |
V766A |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,244 (GRCm39) |
D307E |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,266 (GRCm39) |
M109K |
possibly damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,544 (GRCm39) |
I103T |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,121 (GRCm39) |
Y169H |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,417,585 (GRCm39) |
D2522G |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,271 (GRCm39) |
D433G |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,691 (GRCm39) |
S12P |
probably benign |
Het |
| Ptpn23 |
T |
A |
9: 110,216,676 (GRCm39) |
Q1060L |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,574,914 (GRCm39) |
N710K |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,910,943 (GRCm39) |
V234A |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,414,612 (GRCm39) |
Q37R |
probably damaging |
Het |
| Slc35e3 |
A |
T |
10: 117,576,484 (GRCm39) |
S230T |
probably damaging |
Het |
| Slc39a2 |
T |
C |
14: 52,132,873 (GRCm39) |
V272A |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,181 (GRCm39) |
Y677F |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,301,213 (GRCm39) |
Y42H |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,774,782 (GRCm39) |
F102L |
probably benign |
Het |
| Sstr3 |
T |
C |
15: 78,424,717 (GRCm39) |
E10G |
probably benign |
Het |
| Tekt3 |
A |
T |
11: 62,985,486 (GRCm39) |
I431F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,855,025 (GRCm39) |
R778H |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,110 (GRCm39) |
V1875D |
probably damaging |
Het |
| Vmn2r29 |
A |
C |
7: 7,234,441 (GRCm39) |
I815S |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,552 (GRCm39) |
K577* |
probably null |
Het |
| Vps26c |
A |
C |
16: 94,299,928 (GRCm39) |
N275K |
probably damaging |
Het |
| Yes1 |
G |
A |
5: 32,802,430 (GRCm39) |
R115Q |
probably benign |
Het |
|
| Other mutations in Perm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01967:Perm1
|
APN |
4 |
156,302,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01970:Perm1
|
APN |
4 |
156,302,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02143:Perm1
|
APN |
4 |
156,302,500 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02644:Perm1
|
APN |
4 |
156,303,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Perm1
|
APN |
4 |
156,302,236 (GRCm39) |
missense |
probably benign |
0.20 |
|
PIT4366001:Perm1
|
UTSW |
4 |
156,303,192 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0052:Perm1
|
UTSW |
4 |
156,302,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Perm1
|
UTSW |
4 |
156,302,682 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0566:Perm1
|
UTSW |
4 |
156,302,316 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1184:Perm1
|
UTSW |
4 |
156,301,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Perm1
|
UTSW |
4 |
156,301,459 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R1244:Perm1
|
UTSW |
4 |
156,302,340 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1724:Perm1
|
UTSW |
4 |
156,302,529 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1783:Perm1
|
UTSW |
4 |
156,302,988 (GRCm39) |
nonsense |
probably null |
|
|
R1817:Perm1
|
UTSW |
4 |
156,303,061 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1892:Perm1
|
UTSW |
4 |
156,302,340 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1893:Perm1
|
UTSW |
4 |
156,302,340 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2106:Perm1
|
UTSW |
4 |
156,303,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Perm1
|
UTSW |
4 |
156,301,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3752:Perm1
|
UTSW |
4 |
156,302,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3934:Perm1
|
UTSW |
4 |
156,303,627 (GRCm39) |
missense |
probably benign |
|
|
R4509:Perm1
|
UTSW |
4 |
156,302,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4667:Perm1
|
UTSW |
4 |
156,304,663 (GRCm39) |
nonsense |
probably null |
|
|
R4706:Perm1
|
UTSW |
4 |
156,301,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4812:Perm1
|
UTSW |
4 |
156,303,193 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4979:Perm1
|
UTSW |
4 |
156,302,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5275:Perm1
|
UTSW |
4 |
156,301,975 (GRCm39) |
missense |
probably benign |
|
|
R5295:Perm1
|
UTSW |
4 |
156,301,975 (GRCm39) |
missense |
probably benign |
|
|
R5425:Perm1
|
UTSW |
4 |
156,302,752 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6125:Perm1
|
UTSW |
4 |
156,302,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6573:Perm1
|
UTSW |
4 |
156,303,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6721:Perm1
|
UTSW |
4 |
156,302,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6986:Perm1
|
UTSW |
4 |
156,302,976 (GRCm39) |
nonsense |
probably null |
|
|
R7190:Perm1
|
UTSW |
4 |
156,304,272 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7561:Perm1
|
UTSW |
4 |
156,303,217 (GRCm39) |
missense |
probably benign |
|
|
R7769:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R7876:Perm1
|
UTSW |
4 |
156,302,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7899:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R7943:Perm1
|
UTSW |
4 |
156,302,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7979:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R8217:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R8352:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R8680:Perm1
|
UTSW |
4 |
156,302,091 (GRCm39) |
missense |
probably benign |
|
|
R8719:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R8753:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R8847:Perm1
|
UTSW |
4 |
156,302,068 (GRCm39) |
missense |
probably benign |
|
|
R9170:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9231:Perm1
|
UTSW |
4 |
156,302,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9259:Perm1
|
UTSW |
4 |
156,303,607 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9410:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9465:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9492:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9501:Perm1
|
UTSW |
4 |
156,302,177 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9518:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
R9548:Perm1
|
UTSW |
4 |
156,302,290 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9569:Perm1
|
UTSW |
4 |
156,303,039 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9576:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTACACGTGCCTCCAAG -3'
(R):5'- GAAGAAACTTCTGGCTTGATCTC -3'
Sequencing Primer
(F):5'- AAGCCTCAACCCGACGTGG -3'
(R):5'- GAAACTTCTGGCTTGATCTCTGAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation