Incidental Mutation 'IGL02465:Proser3'
| ID |
294566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Proser3
|
| Ensembl Gene |
ENSMUSG00000036864 |
| Gene Name |
proline and serine rich 3 |
| Synonyms |
BC053749 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30238559-30251724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30242958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062708]
[ENSMUST00000108165]
[ENSMUST00000153594]
[ENSMUST00000215288]
|
| AlphaFold |
Q7TSA6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062708
AA Change: N206K
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: N206K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108165
AA Change: N206K
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: N206K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134113
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153594
|
| SMART Domains |
Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208842
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215288
AA Change: N206K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
| Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
| Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,557,872 (GRCm39) |
D156G |
possibly damaging |
Het |
| Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,460,435 (GRCm39) |
Y417C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
| Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
| Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,194 (GRCm39) |
N680S |
probably damaging |
Het |
| Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
| Or9a2 |
C |
T |
6: 41,748,490 (GRCm39) |
V248I |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
| Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
| Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
| Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
| Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
| Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
Het |
|
| Other mutations in Proser3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Proser3
|
APN |
7 |
30,240,096 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01346:Proser3
|
APN |
7 |
30,249,071 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03178:Proser3
|
APN |
7 |
30,243,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03372:Proser3
|
APN |
7 |
30,242,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Proser3
|
UTSW |
7 |
30,242,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0008:Proser3
|
UTSW |
7 |
30,239,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Proser3
|
UTSW |
7 |
30,239,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Proser3
|
UTSW |
7 |
30,245,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Proser3
|
UTSW |
7 |
30,240,208 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0702:Proser3
|
UTSW |
7 |
30,238,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Proser3
|
UTSW |
7 |
30,240,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1185:Proser3
|
UTSW |
7 |
30,245,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1457:Proser3
|
UTSW |
7 |
30,239,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1650:Proser3
|
UTSW |
7 |
30,239,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1697:Proser3
|
UTSW |
7 |
30,239,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Proser3
|
UTSW |
7 |
30,239,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4210:Proser3
|
UTSW |
7 |
30,245,525 (GRCm39) |
intron |
probably benign |
|
|
R4375:Proser3
|
UTSW |
7 |
30,240,096 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5364:Proser3
|
UTSW |
7 |
30,245,573 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6225:Proser3
|
UTSW |
7 |
30,243,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Proser3
|
UTSW |
7 |
30,239,781 (GRCm39) |
missense |
probably benign |
|
|
R7151:Proser3
|
UTSW |
7 |
30,239,749 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7707:Proser3
|
UTSW |
7 |
30,239,216 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7748:Proser3
|
UTSW |
7 |
30,239,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7923:Proser3
|
UTSW |
7 |
30,249,086 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8975:Proser3
|
UTSW |
7 |
30,239,458 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9366:Proser3
|
UTSW |
7 |
30,248,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9502:Proser3
|
UTSW |
7 |
30,245,587 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9673:Proser3
|
UTSW |
7 |
30,248,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Proser3
|
UTSW |
7 |
30,240,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z31818:Proser3
|
UTSW |
7 |
30,245,790 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation