Incidental Mutation 'IGL02035:Proser1'
| ID |
184479 |
| 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 # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
53371216-53389176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53386251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 711
(V711A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058577]
|
| AlphaFold |
Q5PRE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058577
AA Change: V711A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: V711A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Proser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02217:Proser1
|
APN |
3 |
53,378,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02260:Proser1
|
APN |
3 |
53,386,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation