Incidental Mutation 'R4509:Perm1'
| ID |
331113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
041758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R4509 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156302043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 196
(S196P)
|
| 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: S196P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: S196P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
| Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
| Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
| Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
| Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
| Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
| Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
| Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
| Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
| Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
| Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
| Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
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 |
|
|
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 |
|
|
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'- CAAGATGCAGAGGCTTTTGC -3'
(R):5'- AGCTCTGGATGTCTTTCTGATC -3'
Sequencing Primer
(F):5'- GCTTTTGCAAGGCCCTGC -3'
(R):5'- CTGATCTGATCTTGTTCAGTTATCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation