Incidental Mutation 'R6986:Perm1'
| ID |
542963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
045093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 156302976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 507
(K507*)
|
| 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 null
Transcript: ENSMUST00000105572
AA Change: K507*
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: K507*
| 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: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,129,441 (GRCm39) |
N482D |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,816,387 (GRCm39) |
K766E |
probably benign |
Het |
| Aldh3a1 |
T |
A |
11: 61,105,077 (GRCm39) |
I154N |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,932,446 (GRCm39) |
V486I |
probably benign |
Het |
| Celf3 |
G |
C |
3: 94,395,024 (GRCm39) |
A313P |
possibly damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,069,586 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Chrna5 |
T |
A |
9: 54,913,741 (GRCm39) |
M429K |
possibly damaging |
Het |
| Cux2 |
A |
T |
5: 122,006,642 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,928,073 (GRCm39) |
S3T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,927,571 (GRCm39) |
M321K |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,606 (GRCm39) |
E293G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,932,631 (GRCm39) |
T1434I |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,747,459 (GRCm39) |
I599N |
probably damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,398 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
T |
C |
14: 51,602,832 (GRCm39) |
M56T |
possibly damaging |
Het |
| H3c8 |
A |
G |
13: 23,719,603 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,204,474 (GRCm39) |
Y994C |
probably damaging |
Het |
| Irf1 |
A |
G |
11: 53,664,966 (GRCm39) |
T165A |
probably damaging |
Het |
| Lgr6 |
G |
T |
1: 134,921,694 (GRCm39) |
Q217K |
possibly damaging |
Het |
| Lrrc36 |
T |
C |
8: 106,185,079 (GRCm39) |
S619P |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,066,453 (GRCm39) |
N45D |
possibly damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,460 (GRCm39) |
H53R |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,439,692 (GRCm39) |
T583A |
probably damaging |
Het |
| Ncdn |
A |
G |
4: 126,641,022 (GRCm39) |
Y493H |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,350,911 (GRCm39) |
Y726F |
probably benign |
Het |
| Optc |
T |
A |
1: 133,825,702 (GRCm39) |
M275L |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,924 (GRCm39) |
K378R |
possibly damaging |
Het |
| Or6c69c |
G |
A |
10: 129,911,199 (GRCm39) |
V307M |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,111,212 (GRCm39) |
E160K |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,175,181 (GRCm39) |
P14T |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 124,439,080 (GRCm38) |
Y112* |
probably null |
Het |
| Pramel14 |
T |
A |
4: 143,719,888 (GRCm39) |
D159V |
probably damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Rnls |
C |
T |
19: 33,359,781 (GRCm39) |
G11D |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,929,822 (GRCm39) |
T333A |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,962 (GRCm39) |
N572K |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,469,891 (GRCm39) |
L319P |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,901,054 (GRCm39) |
D871G |
probably damaging |
Het |
| Sf3b2 |
T |
C |
19: 5,329,923 (GRCm39) |
T661A |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,867 (GRCm39) |
R30W |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,881,288 (GRCm39) |
S52P |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,389 (GRCm39) |
M57K |
probably damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,868,696 (GRCm39) |
V309A |
possibly damaging |
Het |
| Srbd1 |
A |
T |
17: 86,292,650 (GRCm39) |
I973N |
probably damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,723 (GRCm39) |
S428T |
probably benign |
Het |
| Ss18l2 |
A |
G |
9: 121,541,671 (GRCm39) |
Y50C |
probably damaging |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,801,647 (GRCm39) |
N460D |
probably benign |
Het |
| Tnni3k |
C |
T |
3: 154,667,501 (GRCm39) |
G280R |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,709,165 (GRCm39) |
|
probably null |
Het |
| Tshr |
C |
T |
12: 91,500,731 (GRCm39) |
A152V |
probably damaging |
Het |
| Tuft1 |
G |
A |
3: 94,521,461 (GRCm39) |
P358S |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,340 (GRCm39) |
S672T |
probably damaging |
Het |
| Vmn2r83 |
G |
T |
10: 79,316,093 (GRCm39) |
E496D |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,271 (GRCm39) |
N646S |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,441,426 (GRCm39) |
V412A |
possibly damaging |
Het |
| Zmynd8 |
G |
T |
2: 165,675,335 (GRCm39) |
H273N |
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 |
|
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'- TGCCTCGTTCTGTTTCAAAGAC -3'
(R):5'- GTTTCCAGACTCAGCCTCTG -3'
Sequencing Primer
(F):5'- CGTTCTGTTTCAAAGACTGAGTC -3'
(R):5'- CAGGTGCTTGAGGATCCGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation