Incidental Mutation 'IGL01905:Proca1'
| ID |
179637 |
| 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 # |
IGL01905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78084218-78096589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78095716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 29
(H29R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086022
(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: H29R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122
AA Change: H29R
| 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 |
possibly damaging
Transcript: ENSMUST00000108317
AA Change: H116R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: H116R
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,582 (GRCm39) |
C245S |
probably damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,559 (GRCm39) |
I206T |
possibly damaging |
Het |
| Bax |
A |
T |
7: 45,115,542 (GRCm39) |
I31N |
probably damaging |
Het |
| Ccdc116 |
C |
A |
16: 16,960,425 (GRCm39) |
V131L |
probably damaging |
Het |
| Ces2b |
C |
A |
8: 105,560,594 (GRCm39) |
N136K |
probably damaging |
Het |
| Csnk1d |
A |
T |
11: 120,864,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Fam167b |
A |
G |
4: 129,470,892 (GRCm39) |
M152T |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,672,538 (GRCm39) |
S1182L |
probably benign |
Het |
| Lpcat4 |
T |
C |
2: 112,073,388 (GRCm39) |
|
probably null |
Het |
| Myh8 |
T |
C |
11: 67,175,477 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,165,577 (GRCm39) |
D744N |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,522,077 (GRCm39) |
Y214* |
probably null |
Het |
| Prrc2c |
T |
C |
1: 162,532,898 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
G |
A |
1: 191,785,302 (GRCm39) |
P489S |
probably damaging |
Het |
| Rela |
A |
T |
19: 5,695,592 (GRCm39) |
N337I |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,948,569 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,109,715 (GRCm39) |
S12T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,863,318 (GRCm39) |
L294Q |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,832,301 (GRCm39) |
D740G |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
T |
C |
7: 44,383,151 (GRCm39) |
K394R |
probably benign |
Het |
| Zkscan7 |
C |
T |
9: 122,719,826 (GRCm39) |
P171S |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,841,541 (GRCm39) |
F36L |
probably benign |
Het |
|
| Other mutations in Proca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01806:Proca1
|
APN |
11 |
78,095,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation