Incidental Mutation 'IGL03094:Ppm1m'
| ID |
418488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppm1m
|
| Ensembl Gene |
ENSMUSG00000020253 |
| Gene Name |
protein phosphatase 1M |
| Synonyms |
PP2C eta, 2810423O19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106072152-106076432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106073610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 314
(K314T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076258]
[ENSMUST00000140761]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076258
AA Change: K258T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253
AA Change: K258T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
14 |
394 |
7.38e-44 |
SMART |
|
PP2C_SIG
|
50 |
396 |
1.51e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136431
AA Change: K75T
|
| SMART Domains |
Protein: ENSMUSP00000118165
Gene: ENSMUSG00000020253
AA Change: K75T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
2 |
200 |
1.93e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140761
AA Change: K314T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253
AA Change: K314T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
60 |
450 |
8.04e-45 |
SMART |
|
PP2C_SIG
|
106 |
452 |
1.51e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215742
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(8) : Targeted(2) Gene trapped(6)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,938 (GRCm39) |
N1375S |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,815,768 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,980,911 (GRCm39) |
V732M |
possibly damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,184 (GRCm39) |
V61I |
probably benign |
Het |
| BC025920 |
C |
A |
10: 81,444,906 (GRCm39) |
R10S |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,385,035 (GRCm39) |
I347V |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,886 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,305 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Glra3 |
C |
A |
8: 56,578,207 (GRCm39) |
H421Q |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,049 (GRCm39) |
N145S |
probably damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,864,339 (GRCm39) |
V256E |
probably damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,814,958 (GRCm39) |
G68E |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,089 (GRCm39) |
|
probably benign |
Het |
| Knop1 |
T |
A |
7: 118,452,374 (GRCm39) |
D63V |
possibly damaging |
Het |
| Krt39 |
T |
C |
11: 99,411,628 (GRCm39) |
|
probably benign |
Het |
| Ldhb |
T |
C |
6: 142,451,253 (GRCm39) |
K5R |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,809 (GRCm39) |
I1872F |
possibly damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,886,532 (GRCm39) |
N107D |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,746,291 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,023,130 (GRCm39) |
T236I |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,878 (GRCm39) |
S168P |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,953 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,093,755 (GRCm39) |
I1020R |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,845 (GRCm39) |
N441S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,519 (GRCm39) |
S398P |
probably damaging |
Het |
| Prmt2 |
T |
A |
10: 76,046,224 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,261,023 (GRCm39) |
S216P |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,434,109 (GRCm39) |
|
probably benign |
Het |
| Tmem225 |
A |
T |
9: 40,059,682 (GRCm39) |
I21L |
possibly damaging |
Het |
| Tnnt2 |
T |
C |
1: 135,777,200 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,064,754 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,075 (GRCm39) |
L97P |
probably benign |
Het |
| Zmat2 |
T |
G |
18: 36,929,119 (GRCm39) |
V89G |
probably damaging |
Het |
|
| Other mutations in Ppm1m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02003:Ppm1m
|
APN |
9 |
106,076,356 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02090:Ppm1m
|
APN |
9 |
106,074,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02644:Ppm1m
|
APN |
9 |
106,074,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Ppm1m
|
APN |
9 |
106,072,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Ppm1m
|
UTSW |
9 |
106,073,895 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Ppm1m
|
UTSW |
9 |
106,073,895 (GRCm39) |
nonsense |
probably null |
|
|
R0361:Ppm1m
|
UTSW |
9 |
106,075,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Ppm1m
|
UTSW |
9 |
106,074,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Ppm1m
|
UTSW |
9 |
106,075,874 (GRCm39) |
missense |
probably benign |
|
|
R4654:Ppm1m
|
UTSW |
9 |
106,073,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Ppm1m
|
UTSW |
9 |
106,073,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5450:Ppm1m
|
UTSW |
9 |
106,074,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5516:Ppm1m
|
UTSW |
9 |
106,075,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6278:Ppm1m
|
UTSW |
9 |
106,074,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6533:Ppm1m
|
UTSW |
9 |
106,074,069 (GRCm39) |
unclassified |
probably benign |
|
|
R6746:Ppm1m
|
UTSW |
9 |
106,075,351 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Ppm1m
|
UTSW |
9 |
106,073,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Ppm1m
|
UTSW |
9 |
106,073,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Ppm1m
|
UTSW |
9 |
106,075,895 (GRCm39) |
missense |
probably benign |
|
|
R7936:Ppm1m
|
UTSW |
9 |
106,075,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Ppm1m
|
UTSW |
9 |
106,076,237 (GRCm39) |
unclassified |
probably benign |
|
|
R9643:Ppm1m
|
UTSW |
9 |
106,075,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Ppm1m
|
UTSW |
9 |
106,075,321 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation