Incidental Mutation 'IGL01346:Proser3'
ID |
75043 |
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 # |
IGL01346
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30238559-30251724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30249071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 7
(N7S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044048]
[ENSMUST00000062708]
[ENSMUST00000108165]
[ENSMUST00000153594]
[ENSMUST00000215288]
|
AlphaFold |
Q7TSA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044048
|
SMART Domains |
Protein: ENSMUSP00000039172 Gene: ENSMUSG00000036854
Domain | Start | End | E-Value | Type |
Pfam:Crystallin
|
1 |
62 |
4.4e-24 |
PFAM |
Pfam:HSP20
|
66 |
158 |
5.6e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062708
AA Change: N7S
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000059135 Gene: ENSMUSG00000036864 AA Change: N7S
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 benign
Transcript: ENSMUST00000108165
AA Change: N7S
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103800 Gene: ENSMUSG00000036864 AA Change: N7S
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: ENSMUST00000123355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134113
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153594
AA Change: N7S
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123095 Gene: ENSMUSG00000036864 AA Change: N7S
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215288
AA Change: N7S
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
probably null |
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 |
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 |
Z31818:Proser3
|
UTSW |
7 |
30,245,790 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Posted On |
2013-10-07 |