Incidental Mutation 'Z31818:Proser3'
| ID |
478398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proser3
|
| Ensembl Gene |
ENSMUSG00000036864 |
| Gene Name |
proline and serine rich 3 |
| Synonyms |
BC053749 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
Z31818 (F1)
|
| Quality Score |
222.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30238559-30251724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30245790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 97
(P97L)
|
| 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: P97L
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: P97L
| 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: P97L
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: P97L
| 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: ENSMUST00000208706
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215288
AA Change: P97L
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dmrtc2 |
C |
A |
7: 24,576,583 (GRCm39) |
P336T |
probably benign |
Het |
| Flt3 |
C |
T |
5: 147,303,728 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,142 (GRCm39) |
D70N |
probably damaging |
Het |
| Gan |
T |
A |
8: 117,922,536 (GRCm39) |
I423N |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,314,452 (GRCm39) |
L634R |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,800,610 (GRCm39) |
M74K |
probably benign |
Het |
| Or9m1b |
A |
T |
2: 87,836,234 (GRCm39) |
L287* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,385,426 (GRCm39) |
R287G |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,395,924 (GRCm39) |
N2098T |
probably damaging |
Het |
| Rag2 |
G |
A |
2: 101,461,150 (GRCm39) |
A487T |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,892 (GRCm39) |
C716* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,034,877 (GRCm39) |
Y72H |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,604,729 (GRCm39) |
|
probably null |
Het |
| Vps13a |
C |
T |
19: 16,758,118 (GRCm39) |
V6M |
possibly damaging |
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 |
|
IGL02465:Proser3
|
APN |
7 |
30,242,958 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGATGTACTGGACACACC -3'
(R):5'- TCTGAGCATACCTTTGCATGG -3'
Sequencing Primer
(F):5'- ATGGACCTGTCACAGCAGATCTTC -3'
(R):5'- CCTTTGCATGGTGCTTGATAAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation