Incidental Mutation 'R5425:Perm1'
| ID |
426807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
042991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5425 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156302752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 432
(D432G)
|
| 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 benign
Transcript: ENSMUST00000105572
AA Change: D432G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: D432G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,864,254 (GRCm39) |
E465G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Aida |
T |
A |
1: 183,103,201 (GRCm39) |
C174S |
possibly damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,160,286 (GRCm39) |
R104H |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,104,407 (GRCm39) |
L98P |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,798,679 (GRCm39) |
Y20* |
probably null |
Het |
| Arhgap9 |
C |
A |
10: 127,162,287 (GRCm39) |
N314K |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,119 (GRCm39) |
Y427H |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bola3 |
G |
T |
6: 83,326,534 (GRCm39) |
G18W |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,731,334 (GRCm39) |
T138A |
probably benign |
Het |
| Castor1 |
T |
A |
11: 4,171,689 (GRCm39) |
H304Q |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,127,580 (GRCm39) |
Y53H |
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,926,002 (GRCm39) |
D239V |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,052,428 (GRCm39) |
Q287L |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,885,371 (GRCm39) |
A415T |
possibly damaging |
Het |
| Cfap74 |
A |
G |
4: 155,540,149 (GRCm39) |
|
probably benign |
Het |
| Crnn |
A |
G |
3: 93,056,456 (GRCm39) |
K414R |
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,656,212 (GRCm39) |
L273P |
possibly damaging |
Het |
| Dab2ip |
T |
G |
2: 35,600,003 (GRCm39) |
H206Q |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,419,745 (GRCm39) |
S62G |
probably damaging |
Het |
| Diras2 |
A |
G |
13: 52,662,083 (GRCm39) |
S75P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,218,831 (GRCm39) |
V1757A |
probably benign |
Het |
| Dus4l |
A |
T |
12: 31,690,807 (GRCm39) |
H281Q |
probably damaging |
Het |
| Faah |
A |
T |
4: 115,857,993 (GRCm39) |
M436K |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,922 (GRCm39) |
V2656A |
possibly damaging |
Het |
| Ffar1 |
A |
C |
7: 30,560,204 (GRCm39) |
L231R |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,527,018 (GRCm39) |
K27E |
probably damaging |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
C |
17: 36,479,377 (GRCm39) |
L8R |
probably damaging |
Het |
| Irx6 |
T |
C |
8: 93,404,145 (GRCm39) |
|
probably null |
Het |
| Mcrs1 |
C |
A |
15: 99,141,569 (GRCm39) |
R376L |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,719 (GRCm39) |
L64F |
possibly damaging |
Het |
| Nck2 |
T |
G |
1: 43,593,552 (GRCm39) |
V253G |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,566,702 (GRCm39) |
T12M |
possibly damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,317,095 (GRCm39) |
L256Q |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,258,709 (GRCm39) |
Y322* |
probably null |
Het |
| Pzp |
G |
A |
6: 128,466,011 (GRCm39) |
A1223V |
probably damaging |
Het |
| Rassf8 |
A |
T |
6: 145,761,268 (GRCm39) |
Y198F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,365 (GRCm39) |
Q42R |
probably benign |
Het |
| Sirpb1b |
A |
C |
3: 15,613,729 (GRCm39) |
C51G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,150,643 (GRCm39) |
Q316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,189,331 (GRCm39) |
V5A |
possibly damaging |
Het |
| Sprr2e |
G |
A |
3: 92,260,370 (GRCm39) |
C67Y |
unknown |
Het |
| Tcaf3 |
G |
A |
6: 42,573,697 (GRCm39) |
P172S |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,120,155 (GRCm39) |
I72T |
probably benign |
Het |
| Tmem17 |
G |
T |
11: 22,468,624 (GRCm39) |
V188L |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,678 (GRCm39) |
|
probably null |
Het |
| Tshz2 |
A |
T |
2: 169,725,944 (GRCm39) |
Q180L |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,494 (GRCm39) |
I1256F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Ywhag |
G |
T |
5: 135,940,119 (GRCm39) |
H158Q |
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 |
|
|
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 |
|
|
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'- ACACGGCTTTGTCTACACCC -3'
(R):5'- GCCATGGAAAATCGTACTTTCTTC -3'
Sequencing Primer
(F):5'- GTCTACACCCGCCTCTGAG -3'
(R):5'- TGAGGACCCTGCTGAGAACTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation