Incidental Mutation 'IGL02260:Proser1'
| ID |
286694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Proser1
|
| Ensembl Gene |
ENSMUSG00000049504 |
| Gene Name |
proline and serine rich 1 |
| Synonyms |
2810046L04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02260
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
53371216-53389176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53386365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 749
(G749D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058577]
|
| AlphaFold |
Q5PRE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058577
AA Change: G749D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: G749D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4476
|
1 |
63 |
5e-12 |
PFAM |
|
Pfam:DUF4476
|
30 |
121 |
4e-27 |
PFAM |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200328
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,754,891 (GRCm39) |
A663V |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,699 (GRCm39) |
|
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,833,804 (GRCm39) |
I194V |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,609,714 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,526,672 (GRCm39) |
F284S |
possibly damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,832,717 (GRCm39) |
|
probably benign |
Het |
| Cox18 |
C |
T |
5: 90,365,384 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,299,898 (GRCm39) |
M362K |
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,265,760 (GRCm39) |
M203K |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,933,093 (GRCm39) |
G500R |
probably damaging |
Het |
| Ebf3 |
G |
A |
7: 136,807,919 (GRCm39) |
P375S |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,084,537 (GRCm39) |
L842M |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,909 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk10 |
A |
T |
5: 103,186,534 (GRCm39) |
D29E |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,745,628 (GRCm39) |
R61H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,303,697 (GRCm39) |
S724P |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,622,758 (GRCm39) |
I1946T |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,260,995 (GRCm39) |
L1873P |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,415,310 (GRCm39) |
Q1226* |
probably null |
Het |
| Neb |
A |
G |
2: 52,095,668 (GRCm39) |
L4858P |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,114 (GRCm39) |
I128F |
probably damaging |
Het |
| Or5m9b |
C |
A |
2: 85,905,816 (GRCm39) |
T244K |
possibly damaging |
Het |
| Or5p76 |
T |
C |
7: 108,122,492 (GRCm39) |
I222V |
probably benign |
Het |
| Pcdhb14 |
C |
T |
18: 37,583,086 (GRCm39) |
H731Y |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,412,744 (GRCm39) |
N1087S |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,861,157 (GRCm39) |
G711D |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,713,166 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
A |
T |
11: 23,657,548 (GRCm39) |
K233* |
probably null |
Het |
| Rasa2 |
A |
G |
9: 96,426,372 (GRCm39) |
Y825H |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,494,104 (GRCm39) |
F969S |
probably damaging |
Het |
| Tbp |
T |
A |
17: 15,724,878 (GRCm39) |
S133T |
probably damaging |
Het |
| Tnks |
C |
T |
8: 35,310,137 (GRCm39) |
G1062D |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,372 (GRCm39) |
S625T |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,850,562 (GRCm39) |
S239P |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,564 (GRCm39) |
D115G |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,211,381 (GRCm39) |
S483P |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,887,509 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr62 |
C |
A |
7: 29,970,207 (GRCm39) |
C200F |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,483,969 (GRCm39) |
C586Y |
possibly damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,575 (GRCm39) |
T399I |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,894,078 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,157,720 (GRCm39) |
D263E |
probably benign |
Het |
|
| Other mutations in Proser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02035:Proser1
|
APN |
3 |
53,386,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02217:Proser1
|
APN |
3 |
53,378,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02943:Proser1
|
APN |
3 |
53,386,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
donatello
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Proser1
|
UTSW |
3 |
53,388,038 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0230:Proser1
|
UTSW |
3 |
53,386,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0579:Proser1
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0616:Proser1
|
UTSW |
3 |
53,382,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0622:Proser1
|
UTSW |
3 |
53,385,281 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0629:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0707:Proser1
|
UTSW |
3 |
53,386,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Proser1
|
UTSW |
3 |
53,385,180 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1997:Proser1
|
UTSW |
3 |
53,386,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2129:Proser1
|
UTSW |
3 |
53,385,366 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2207:Proser1
|
UTSW |
3 |
53,385,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2851:Proser1
|
UTSW |
3 |
53,387,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4077:Proser1
|
UTSW |
3 |
53,385,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Proser1
|
UTSW |
3 |
53,387,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4970:Proser1
|
UTSW |
3 |
53,371,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Proser1
|
UTSW |
3 |
53,387,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5611:Proser1
|
UTSW |
3 |
53,386,296 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6090:Proser1
|
UTSW |
3 |
53,386,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6146:Proser1
|
UTSW |
3 |
53,385,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Proser1
|
UTSW |
3 |
53,385,750 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6880:Proser1
|
UTSW |
3 |
53,385,260 (GRCm39) |
missense |
probably benign |
|
|
R7308:Proser1
|
UTSW |
3 |
53,386,125 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7456:Proser1
|
UTSW |
3 |
53,385,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Proser1
|
UTSW |
3 |
53,380,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Proser1
|
UTSW |
3 |
53,386,503 (GRCm39) |
nonsense |
probably null |
|
|
R8108:Proser1
|
UTSW |
3 |
53,379,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8172:Proser1
|
UTSW |
3 |
53,386,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8414:Proser1
|
UTSW |
3 |
53,385,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Proser1
|
UTSW |
3 |
53,385,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9064:Proser1
|
UTSW |
3 |
53,384,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Proser1
|
UTSW |
3 |
53,379,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9555:Proser1
|
UTSW |
3 |
53,378,876 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2015-04-16 |
Incidental Mutation