Incidental Mutation 'R7190:Perm1'
| ID |
559535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
045273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7190 (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 G
at 156304272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 754
(T754A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000105572
AA Change: T754A
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: T754A
| 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
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,330 (GRCm39) |
R27* |
probably null |
Het |
| Armc3 |
T |
A |
2: 19,297,947 (GRCm39) |
Y573N |
probably damaging |
Het |
| Bod1l |
A |
C |
5: 41,977,281 (GRCm39) |
N1344K |
probably benign |
Het |
| Camta1 |
T |
G |
4: 151,232,980 (GRCm39) |
N231T |
possibly damaging |
Het |
| Capza2 |
T |
A |
6: 17,654,120 (GRCm39) |
Y57* |
probably null |
Het |
| Ccdc168 |
A |
C |
1: 44,100,775 (GRCm39) |
S108A |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,780,432 (GRCm39) |
I871F |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,359,574 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
T |
11: 69,439,923 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
C |
18: 25,223,812 (GRCm39) |
F1053L |
probably damaging |
Het |
| Foxj1 |
A |
G |
11: 116,223,201 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Gatad2b |
T |
A |
3: 90,257,722 (GRCm39) |
I210N |
probably benign |
Het |
| Gba1 |
T |
A |
3: 89,111,669 (GRCm39) |
I112N |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,339,208 (GRCm39) |
V420A |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,357,721 (GRCm39) |
H1072Q |
probably damaging |
Het |
| Gpr150 |
C |
T |
13: 76,203,992 (GRCm39) |
A318T |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,956 (GRCm39) |
N209D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,946 (GRCm39) |
N1200S |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,818 (GRCm39) |
H307Y |
unknown |
Het |
| Il20ra |
A |
T |
10: 19,618,689 (GRCm39) |
I46F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,033,570 (GRCm39) |
D927G |
probably benign |
Het |
| Nlrc4 |
G |
T |
17: 74,752,198 (GRCm39) |
D728E |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,598,040 (GRCm39) |
D630G |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,315,990 (GRCm39) |
I273N |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,298,626 (GRCm39) |
I27T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,729,743 (GRCm39) |
A2867D |
unknown |
Het |
| Plpbp |
G |
T |
8: 27,541,325 (GRCm39) |
V162L |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,370,694 (GRCm39) |
E220D |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,726 (GRCm39) |
M199K |
probably benign |
Het |
| Pramel38 |
T |
G |
5: 94,366,096 (GRCm39) |
N71K |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,754,666 (GRCm39) |
E204G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,252,945 (GRCm39) |
D667E |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,695,410 (GRCm39) |
I462V |
unknown |
Het |
| Rpain |
A |
G |
11: 70,862,735 (GRCm39) |
E76G |
possibly damaging |
Het |
| Strc |
T |
G |
2: 121,199,507 (GRCm39) |
I1311L |
probably benign |
Het |
| Svil |
A |
G |
18: 5,092,937 (GRCm39) |
M1385V |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,113,361 (GRCm39) |
D1083E |
probably benign |
Het |
| Szt2 |
T |
A |
4: 118,246,203 (GRCm39) |
H986L |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,113,493 (GRCm39) |
|
probably null |
Het |
| Thy1 |
T |
A |
9: 43,958,222 (GRCm39) |
S117T |
possibly damaging |
Het |
| Tmem183a |
A |
T |
1: 134,282,496 (GRCm39) |
I203N |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,644,491 (GRCm39) |
I118V |
probably benign |
Het |
| Tsen34 |
T |
C |
7: 3,697,806 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,717,143 (GRCm39) |
Q7506R |
unknown |
Het |
| Vmn1r184 |
T |
C |
7: 25,967,105 (GRCm39) |
S284P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,398,205 (GRCm39) |
D810G |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,993,444 (GRCm39) |
D554G |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,517,768 (GRCm39) |
T250S |
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 |
|
|
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'- CATGGGGAAGATCTGACTCC -3'
(R):5'- ACGCAGTCTTCAAAGGACAG -3'
Sequencing Primer
(F):5'- CTGACTCCAAAGATTTGTCTGGGAC -3'
(R):5'- CAGTCTTCAAAGGACAGTGTGTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation