Incidental Mutation 'R7979:Perm1'
| ID |
651070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7979 (G1)
|
| Quality Score |
206.458 |
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
| Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
| Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
| Chpf |
A |
T |
1: 75,453,904 (GRCm39) |
C291* |
probably null |
Het |
| Cr1l |
T |
C |
1: 194,800,030 (GRCm39) |
T215A |
probably damaging |
Het |
| Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,068,845 (GRCm39) |
V176D |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
| Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
| Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
| Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
| Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
| Pfkm |
G |
A |
15: 98,026,117 (GRCm39) |
E571K |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
| Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
| Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
| Zfp451 |
G |
A |
1: 33,821,219 (GRCm39) |
S211L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
| Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
| Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
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 |
|
|
R7578:Perm1
|
UTSW |
4 |
156,302,525 (GRCm39) |
unclassified |
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 |
|
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'- GGAAGTTCACCCAGATGTCC -3'
(R):5'- AGAGGTCCACATGCAATCC -3'
Sequencing Primer
(F):5'- GTGTCTACACGTGCCTCCAAG -3'
(R):5'- ACATGCAATCCAGGTGTGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation