Incidental Mutation 'R0008:Proser3'
ID |
8107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Proser3
|
Ensembl Gene |
ENSMUSG00000036864 |
Gene Name |
proline and serine rich 3 |
Synonyms |
BC053749 |
MMRRC Submission |
038303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0008 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30238559-30251724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30239563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 514
(R514C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062708]
[ENSMUST00000108165]
[ENSMUST00000215288]
|
AlphaFold |
Q7TSA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062708
AA Change: R514C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059135 Gene: ENSMUSG00000036864 AA Change: R514C
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 |
probably damaging
Transcript: ENSMUST00000108165
AA Change: R514C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103800 Gene: ENSMUSG00000036864 AA Change: R514C
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 |
noncoding transcript
Transcript: ENSMUST00000208842
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215288
AA Change: R514C
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
Validation Efficiency |
90% (82/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
Mtbp |
T |
A |
15: 55,449,889 (GRCm39) |
|
probably benign |
Het |
Nat9 |
A |
T |
11: 115,075,941 (GRCm39) |
Y27N |
probably damaging |
Het |
Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
Pcyt2 |
A |
T |
11: 120,506,695 (GRCm39) |
I53N |
possibly damaging |
Het |
Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
Wdr93 |
A |
G |
7: 79,408,221 (GRCm39) |
E234G |
probably damaging |
Het |
Zfp385b |
A |
T |
2: 77,246,291 (GRCm39) |
S245R |
probably benign |
Het |
Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
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 |
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 |
2012-11-20 |