Incidental Mutation 'IGL00325:Ppp1r35'
| ID |
6387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r35
|
| Ensembl Gene |
ENSMUSG00000029725 |
| Gene Name |
protein phosphatase 1, regulatory subunit 35 |
| Synonyms |
2010007H12Rik, 2010011D20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137777138-137778372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137777799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 155
(V155E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031739]
[ENSMUST00000031740]
[ENSMUST00000196022]
[ENSMUST00000198929]
|
| AlphaFold |
Q9D8C8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031739
AA Change: V155E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031739
Gene: ENSMUSG00000029725
AA Change: V155E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
76 |
N/A |
INTRINSIC |
|
Pfam:PPP1R35_C
|
107 |
255 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031740
|
| SMART Domains |
Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
376 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_23
|
398 |
623 |
2.7e-14 |
PFAM |
|
Pfam:PrmA
|
408 |
489 |
6.9e-6 |
PFAM |
|
Pfam:Methyltransf_31
|
419 |
480 |
9.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
420 |
595 |
1.8e-13 |
PFAM |
|
Pfam:Bin3
|
552 |
660 |
4.2e-45 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126126
AA Change: V95E
|
| SMART Domains |
Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725
AA Change: V95E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPP1R35_C
|
48 |
144 |
2.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132726
|
| SMART Domains |
Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
33 |
99 |
8e-6 |
PFAM |
|
Pfam:Bin3
|
59 |
167 |
8.3e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196022
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000198929
AA Change: V34E
|
| SMART Domains |
Protein: ENSMUSP00000143182
Gene: ENSMUSG00000029725
AA Change: V34E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
| BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
| Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
| Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
| Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
| Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
| Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
| Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
| Other mutations in Ppp1r35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02015:Ppp1r35
|
APN |
5 |
137,778,293 (GRCm39) |
unclassified |
probably benign |
|
|
R2091:Ppp1r35
|
UTSW |
5 |
137,778,156 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2155:Ppp1r35
|
UTSW |
5 |
137,778,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5249:Ppp1r35
|
UTSW |
5 |
137,777,406 (GRCm39) |
unclassified |
probably benign |
|
|
R5264:Ppp1r35
|
UTSW |
5 |
137,778,286 (GRCm39) |
unclassified |
probably benign |
|
|
R7436:Ppp1r35
|
UTSW |
5 |
137,778,279 (GRCm39) |
nonsense |
probably null |
|
|
R8206:Ppp1r35
|
UTSW |
5 |
137,778,296 (GRCm39) |
missense |
unknown |
|
|
R8803:Ppp1r35
|
UTSW |
5 |
137,777,731 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9389:Ppp1r35
|
UTSW |
5 |
137,777,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Ppp1r35
|
UTSW |
5 |
137,777,304 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ppp1r35
|
UTSW |
5 |
137,777,205 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation