Incidental Mutation 'R9501:Perm1'
| ID |
717556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R9501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156302177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 240
(E240D)
|
| 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: E240D
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: E240D
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,214,853 (GRCm39) |
V439D |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,379,125 (GRCm39) |
S664P |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,282,019 (GRCm39) |
S202G |
unknown |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,735,032 (GRCm39) |
K782R |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,515,999 (GRCm39) |
Q180R |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,481 (GRCm39) |
S1587G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,294 (GRCm39) |
I787N |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,452,045 (GRCm39) |
I1317L |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,777,322 (GRCm39) |
E850* |
probably null |
Het |
| Clpb |
G |
A |
7: 101,427,780 (GRCm39) |
G375D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,328,235 (GRCm39) |
I124F |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,363 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,961 (GRCm39) |
D479G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,419,041 (GRCm39) |
C611S |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,928,992 (GRCm39) |
V1299L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,849 (GRCm39) |
Y1814C |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,130 (GRCm39) |
C1082R |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,207,920 (GRCm39) |
N450K |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,470,990 (GRCm39) |
I4925F |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,500 (GRCm39) |
V396E |
probably benign |
Het |
| Kin |
G |
T |
2: 10,085,478 (GRCm39) |
A13S |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,172,247 (GRCm39) |
R1581C |
|
Het |
| Myl2 |
T |
C |
5: 122,241,921 (GRCm39) |
I66T |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,134,137 (GRCm39) |
C219R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,664,757 (GRCm39) |
Y100N |
probably damaging |
Het |
| Pdk4 |
A |
G |
6: 5,491,084 (GRCm39) |
L227P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,204,156 (GRCm39) |
L46P |
|
Het |
| Pik3ca |
A |
G |
3: 32,504,062 (GRCm39) |
Y584C |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,779,037 (GRCm39) |
S230P |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,241,355 (GRCm39) |
F315S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,039 (GRCm39) |
R542G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,579 (GRCm39) |
N106S |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,122 (GRCm39) |
N775K |
probably damaging |
Het |
| Slc13a2 |
G |
A |
11: 78,291,633 (GRCm39) |
T340M |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,875,257 (GRCm39) |
Y438C |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,617,977 (GRCm39) |
Q336R |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,611 (GRCm39) |
V160A |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,060,506 (GRCm39) |
D183V |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Stxbp1 |
G |
A |
2: 32,692,825 (GRCm39) |
A397V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,535,092 (GRCm39) |
H20R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,718,923 (GRCm39) |
D2626E |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,858,265 (GRCm39) |
M694T |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,398,464 (GRCm39) |
A284V |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,176,943 (GRCm39) |
T327S |
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,510,404 (GRCm39) |
W274R |
unknown |
Het |
| Tshz2 |
A |
T |
2: 169,725,759 (GRCm39) |
E118D |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,980 (GRCm39) |
T990A |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,925,557 (GRCm39) |
D224G |
probably benign |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,650 (GRCm39) |
Q110R |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,890 (GRCm39) |
K537R |
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 |
|
|
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 |
|
|
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'- ATAGCGACAACCCTCAGAGTTC -3'
(R):5'- GGCACGTGTAGACACATTTGG -3'
Sequencing Primer
(F):5'- TGACAGCCTCGAAGCTTC -3'
(R):5'- TGGTGAGGCCATGGGGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation