Incidental Mutation 'R9231:Perm1'
| ID |
700229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
068985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R9231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156302234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 259
(E259D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101197
(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 damaging
Transcript: ENSMUST00000105572
AA Change: E259D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: E259D
| 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: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,349,153 (GRCm39) |
Q1073R |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,551,072 (GRCm39) |
T10A |
possibly damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,234 (GRCm39) |
V876A |
possibly damaging |
Het |
| Aqp8 |
T |
A |
7: 123,061,813 (GRCm39) |
M11K |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,946,705 (GRCm39) |
I134T |
possibly damaging |
Het |
| Cdk9 |
G |
T |
2: 32,598,006 (GRCm39) |
T350N |
probably benign |
Het |
| Ckmt2 |
G |
T |
13: 92,011,311 (GRCm39) |
H100N |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,258 (GRCm39) |
D162V |
probably benign |
Het |
| Cnppd1 |
T |
C |
1: 75,116,261 (GRCm39) |
H108R |
possibly damaging |
Het |
| Col17a1 |
G |
A |
19: 47,667,861 (GRCm39) |
R139* |
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,060,661 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,819 (GRCm39) |
S39G |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,875,533 (GRCm39) |
Y144H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,662 (GRCm39) |
D882G |
probably benign |
Het |
| Emp1 |
C |
T |
6: 135,354,276 (GRCm39) |
T23I |
probably damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,226 (GRCm39) |
D186V |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,254,967 (GRCm39) |
D394E |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,509,084 (GRCm39) |
D376G |
probably benign |
Het |
| Fgfbp3 |
C |
T |
19: 36,896,193 (GRCm39) |
A142T |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,508 (GRCm39) |
S512L |
unknown |
Het |
| Fras1 |
T |
A |
5: 96,692,904 (GRCm39) |
C188S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,335 (GRCm39) |
C322R |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,284,989 (GRCm39) |
M437K |
possibly damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,754,341 (GRCm39) |
L181Q |
probably damaging |
Het |
| Gpr180 |
G |
A |
14: 118,395,455 (GRCm39) |
V296I |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,308 (GRCm39) |
E445K |
probably damaging |
Het |
| H2-T24 |
T |
C |
17: 36,331,363 (GRCm39) |
D14G |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ing5 |
T |
G |
1: 93,739,505 (GRCm39) |
D37E |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,801,074 (GRCm39) |
T1051A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,275,652 (GRCm39) |
S1420T |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,912 (GRCm39) |
F646L |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,382,268 (GRCm39) |
D3731G |
probably benign |
Het |
| Mif |
T |
A |
10: 75,695,370 (GRCm39) |
I97F |
probably damaging |
Het |
| Mpp4 |
A |
T |
1: 59,163,833 (GRCm39) |
V507D |
probably damaging |
Het |
| Mrpl1 |
C |
A |
5: 96,361,719 (GRCm39) |
N35K |
probably benign |
Het |
| Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,630 (GRCm39) |
V173A |
probably damaging |
Het |
| Ninl |
C |
T |
2: 150,792,129 (GRCm39) |
R798Q |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,840 (GRCm39) |
I174V |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,875 (GRCm39) |
H343R |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,661,583 (GRCm39) |
V1455A |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,350,891 (GRCm39) |
S334T |
probably benign |
Het |
| Pcbp2 |
T |
G |
15: 102,394,477 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
T |
19: 38,705,040 (GRCm39) |
N815I |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,934,286 (GRCm39) |
D838V |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,530,265 (GRCm39) |
D52G |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,223 (GRCm39) |
N39S |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,672,084 (GRCm39) |
C1657S |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,627,071 (GRCm39) |
T261S |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,164,885 (GRCm39) |
L446P |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,136,761 (GRCm39) |
D47E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,231 (GRCm39) |
T2119S |
probably damaging |
Het |
| Tent5a |
T |
G |
9: 85,208,388 (GRCm39) |
D145A |
possibly damaging |
Het |
| Tmem132b |
T |
C |
5: 125,860,531 (GRCm39) |
M592T |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,879,340 (GRCm39) |
I862N |
unknown |
Het |
| Washc2 |
C |
A |
6: 116,235,899 (GRCm39) |
D1123E |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,089 (GRCm39) |
I412M |
probably damaging |
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 |
|
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 |
|
|
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'- TCTGCTGCTACCCAGATGAG -3'
(R):5'- TGGGTTGACATTTGAAGGCAAG -3'
Sequencing Primer
(F):5'- TGCTACCCAGATGAGCTCCC -3'
(R):5'- TGTAGACGAAGCTATGTCAGACTGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation