Incidental Mutation 'IGL00543:Ppm1n'
| ID |
6310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppm1n
|
| Ensembl Gene |
ENSMUSG00000030402 |
| Gene Name |
protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
IGL00543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19010730-19013989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19012109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 348
(Y348C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032559]
[ENSMUST00000032560]
|
| AlphaFold |
Q8BGL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032559
|
| SMART Domains |
Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
144 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
272 |
436 |
2.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032560
AA Change: Y348C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032560
Gene: ENSMUSG00000030402
AA Change: Y348C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
28 |
N/A |
INTRINSIC |
|
PP2Cc
|
49 |
317 |
2.02e-82 |
SMART |
|
PP2C_SIG
|
72 |
319 |
1.08e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209186
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,205,835 (GRCm39) |
C42R |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,592,461 (GRCm39) |
H649R |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
T |
C |
2: 102,686,292 (GRCm39) |
T135A |
possibly damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,601,345 (GRCm39) |
I831N |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Epx |
T |
C |
11: 87,760,751 (GRCm39) |
R394G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,427,497 (GRCm39) |
D338G |
probably benign |
Het |
| Ikbkg |
T |
C |
X: 73,476,466 (GRCm39) |
V14A |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,358,960 (GRCm39) |
F638L |
possibly damaging |
Het |
| Lyz3 |
G |
T |
10: 117,074,352 (GRCm39) |
T45K |
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,189 (GRCm39) |
Y87N |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,630,283 (GRCm39) |
I493N |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,269 (GRCm39) |
H214Q |
probably benign |
Het |
| Myom3 |
A |
C |
4: 135,489,882 (GRCm39) |
T18P |
possibly damaging |
Het |
| Ndst3 |
G |
T |
3: 123,465,912 (GRCm39) |
T20N |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,592 (GRCm39) |
S124T |
possibly damaging |
Het |
| Niban2 |
T |
A |
2: 32,802,483 (GRCm39) |
F158Y |
probably benign |
Het |
| Nlgn1 |
T |
G |
3: 25,487,945 (GRCm39) |
T797P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,828 (GRCm39) |
D414G |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,664,940 (GRCm39) |
S386G |
possibly damaging |
Het |
| Ppig |
T |
A |
2: 69,580,060 (GRCm39) |
H531Q |
unknown |
Het |
| Rdh9 |
T |
C |
10: 127,626,853 (GRCm39) |
V302A |
probably benign |
Het |
| Serpinb3b |
A |
G |
1: 107,085,396 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,858,217 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppm1n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Ppm1n
|
APN |
7 |
19,013,179 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01649:Ppm1n
|
APN |
7 |
19,012,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02388:Ppm1n
|
APN |
7 |
19,013,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Ppm1n
|
UTSW |
7 |
19,012,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2153:Ppm1n
|
UTSW |
7 |
19,012,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5099:Ppm1n
|
UTSW |
7 |
19,011,903 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7060:Ppm1n
|
UTSW |
7 |
19,013,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Ppm1n
|
UTSW |
7 |
19,013,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Ppm1n
|
UTSW |
7 |
19,012,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppm1n
|
UTSW |
7 |
19,013,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation