Incidental Mutation 'R2567:Perm1'
| ID |
254538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Perm1
|
| Ensembl Gene |
ENSMUSG00000078486 |
| Gene Name |
PPARGC1 and ESRR induced regulator, muscle 1 |
| Synonyms |
2310042D19Rik |
| MMRRC Submission |
040426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2567 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156300325-156305764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156301575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 40
(S40P)
|
| 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 damaging
Transcript: ENSMUST00000105572
AA Change: S40P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: S40P
| 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: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,836,475 (GRCm39) |
|
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,820,251 (GRCm39) |
D409G |
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,784,175 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,985,156 (GRCm39) |
S863I |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,602,921 (GRCm39) |
K29E |
possibly damaging |
Het |
| Atm |
T |
A |
9: 53,368,770 (GRCm39) |
I2341L |
possibly damaging |
Het |
| Atp12a |
A |
T |
14: 56,624,384 (GRCm39) |
D944V |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,744,255 (GRCm39) |
S1417T |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,276,354 (GRCm39) |
M613K |
probably damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,764,330 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
A |
8: 3,926,327 (GRCm39) |
N96I |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk4 |
T |
G |
10: 126,900,145 (GRCm39) |
V14G |
probably benign |
Het |
| Chrna10 |
C |
A |
7: 101,761,276 (GRCm39) |
M438I |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,060,358 (GRCm39) |
|
probably null |
Het |
| Cog3 |
A |
G |
14: 75,991,730 (GRCm39) |
V40A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,921,883 (GRCm39) |
H315R |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,283,167 (GRCm39) |
|
probably null |
Het |
| Cygb |
T |
C |
11: 116,540,692 (GRCm39) |
D98G |
probably damaging |
Het |
| Dmbx1 |
T |
C |
4: 115,777,489 (GRCm39) |
K120E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,551,920 (GRCm39) |
I2800F |
possibly damaging |
Het |
| Dntt |
G |
T |
19: 41,029,775 (GRCm39) |
R245L |
possibly damaging |
Het |
| Dock1 |
T |
G |
7: 134,747,213 (GRCm39) |
V1508G |
probably damaging |
Het |
| Enpp4 |
A |
C |
17: 44,412,736 (GRCm39) |
I266R |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,644 (GRCm39) |
I46V |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,636,895 (GRCm39) |
Q1995* |
probably null |
Het |
| Foxl3 |
A |
G |
5: 138,805,940 (GRCm39) |
S36G |
probably null |
Het |
| Foxo1 |
T |
A |
3: 52,176,755 (GRCm39) |
L178H |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,153,823 (GRCm39) |
R267H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,831,992 (GRCm39) |
D53G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,252,242 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Haus6 |
C |
A |
4: 86,504,122 (GRCm39) |
E501* |
probably null |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Kdelr3 |
A |
G |
15: 79,407,032 (GRCm39) |
I38V |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,319,054 (GRCm39) |
|
probably null |
Het |
| Larp7-ps |
T |
C |
4: 92,079,560 (GRCm39) |
E87G |
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,214,123 (GRCm39) |
F35L |
probably benign |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Mrpl2 |
A |
G |
17: 46,958,427 (GRCm39) |
T70A |
probably benign |
Het |
| Naa11 |
C |
T |
5: 97,539,618 (GRCm39) |
G180D |
probably benign |
Het |
| Npy6r |
T |
C |
18: 44,408,888 (GRCm39) |
V103A |
possibly damaging |
Het |
| Nup188 |
A |
T |
2: 30,231,794 (GRCm39) |
R1463W |
possibly damaging |
Het |
| Nusap1 |
T |
A |
2: 119,474,311 (GRCm39) |
S336R |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,509 (GRCm39) |
F101I |
probably damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,191,744 (GRCm39) |
L589Q |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,149 (GRCm39) |
N659Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,637,322 (GRCm39) |
T114A |
probably damaging |
Het |
| Pirt |
C |
T |
11: 66,816,985 (GRCm39) |
L99F |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,995 (GRCm39) |
R360G |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,080,957 (GRCm39) |
|
probably null |
Het |
| Rpusd2 |
T |
A |
2: 118,867,556 (GRCm39) |
I268N |
probably damaging |
Het |
| Sds |
G |
T |
5: 120,619,646 (GRCm39) |
W185L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,802,876 (GRCm39) |
K137R |
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,413,008 (GRCm39) |
V25A |
possibly damaging |
Het |
| Slc1a2 |
C |
T |
2: 102,597,355 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,480,459 (GRCm39) |
C70R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,364 (GRCm39) |
E260K |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,232,954 (GRCm39) |
F616I |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,939,334 (GRCm39) |
D590V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,777,008 (GRCm39) |
V430M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,574,672 (GRCm39) |
D25407G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,803 (GRCm39) |
I101V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,210,261 (GRCm39) |
M61K |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,695 (GRCm39) |
T285A |
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 |
|
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 |
|
|
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'- TTTGTGAAGACCCTGCCTG -3'
(R):5'- CAGACACTGTCTAAGCTGGG -3'
Sequencing Primer
(F):5'- TGCCTGGCCCAAAGTCTTG -3'
(R):5'- GCTACCTGATGACTGGCCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation