Incidental Mutation 'IGL01806:Proca1'
ID |
155670 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Proca1
|
Ensembl Gene |
ENSMUSG00000044122 |
Gene Name |
protein interacting with cyclin A1 |
Synonyms |
4933404M19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL01806
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
78084218-78096589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78095737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 123
(D123G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002121]
[ENSMUST00000060539]
[ENSMUST00000078099]
[ENSMUST00000108317]
|
AlphaFold |
B0QZF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002121
|
SMART Domains |
Protein: ENSMUSP00000002121 Gene: ENSMUSG00000002052
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
Pfam:SPT6_acidic
|
37 |
127 |
8.8e-19 |
PFAM |
low complexity region
|
146 |
164 |
N/A |
INTRINSIC |
low complexity region
|
170 |
189 |
N/A |
INTRINSIC |
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
low complexity region
|
220 |
250 |
N/A |
INTRINSIC |
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
Pfam:HTH_44
|
305 |
432 |
1.3e-28 |
PFAM |
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
YqgFc
|
779 |
894 |
4.27e-21 |
SMART |
Pfam:HHH_7
|
935 |
1038 |
3.1e-55 |
PFAM |
Pfam:HHH_3
|
966 |
1036 |
5.2e-10 |
PFAM |
Pfam:DLD
|
1051 |
1159 |
6.8e-39 |
PFAM |
S1
|
1221 |
1282 |
2.8e-3 |
SMART |
SH2
|
1332 |
1421 |
4.12e-11 |
SMART |
low complexity region
|
1441 |
1454 |
N/A |
INTRINSIC |
Blast:SH2
|
1455 |
1517 |
9e-19 |
BLAST |
low complexity region
|
1586 |
1599 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060539
|
SMART Domains |
Protein: ENSMUSP00000050319 Gene: ENSMUSG00000044122
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078099
AA Change: D36G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000086022 Gene: ENSMUSG00000044122 AA Change: D36G
Domain | Start | End | E-Value | Type |
coiled coil region
|
92 |
121 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108314
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108317
AA Change: D123G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103953 Gene: ENSMUSG00000044122 AA Change: D123G
Domain | Start | End | E-Value | Type |
Blast:PA2c
|
33 |
99 |
2e-12 |
BLAST |
SCOP:d1poc__
|
55 |
102 |
5e-4 |
SMART |
coiled coil region
|
179 |
208 |
N/A |
INTRINSIC |
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124772
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
|
Other mutations in Proca1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01905:Proca1
|
APN |
11 |
78,095,716 (GRCm39) |
missense |
probably damaging |
0.98 |
R0396:Proca1
|
UTSW |
11 |
78,085,731 (GRCm39) |
missense |
probably damaging |
0.96 |
R0398:Proca1
|
UTSW |
11 |
78,096,094 (GRCm39) |
missense |
probably benign |
0.00 |
R0734:Proca1
|
UTSW |
11 |
78,092,628 (GRCm39) |
splice site |
probably benign |
|
R0980:Proca1
|
UTSW |
11 |
78,095,773 (GRCm39) |
missense |
probably benign |
0.00 |
R1899:Proca1
|
UTSW |
11 |
78,095,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R1900:Proca1
|
UTSW |
11 |
78,095,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R2183:Proca1
|
UTSW |
11 |
78,094,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2867:Proca1
|
UTSW |
11 |
78,095,806 (GRCm39) |
missense |
probably damaging |
0.97 |
R2867:Proca1
|
UTSW |
11 |
78,095,806 (GRCm39) |
missense |
probably damaging |
0.97 |
R4237:Proca1
|
UTSW |
11 |
78,095,752 (GRCm39) |
missense |
probably benign |
0.22 |
R4687:Proca1
|
UTSW |
11 |
78,095,724 (GRCm39) |
missense |
probably damaging |
0.97 |
R5299:Proca1
|
UTSW |
11 |
78,096,078 (GRCm39) |
missense |
probably damaging |
0.99 |
R5318:Proca1
|
UTSW |
11 |
78,092,683 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5379:Proca1
|
UTSW |
11 |
78,096,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R5564:Proca1
|
UTSW |
11 |
78,092,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6592:Proca1
|
UTSW |
11 |
78,095,779 (GRCm39) |
missense |
probably benign |
0.00 |
R6796:Proca1
|
UTSW |
11 |
78,085,754 (GRCm39) |
missense |
probably benign |
|
R6894:Proca1
|
UTSW |
11 |
78,085,613 (GRCm39) |
unclassified |
probably benign |
|
R7423:Proca1
|
UTSW |
11 |
78,085,643 (GRCm39) |
unclassified |
probably benign |
|
R8110:Proca1
|
UTSW |
11 |
78,095,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R8952:Proca1
|
UTSW |
11 |
78,095,773 (GRCm39) |
missense |
probably benign |
0.00 |
R8974:Proca1
|
UTSW |
11 |
78,096,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2014-02-04 |