Incidental Mutation 'R4237:Proca1'
ID |
321182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Proca1
|
Ensembl Gene |
ENSMUSG00000044122 |
Gene Name |
protein interacting with cyclin A1 |
Synonyms |
4933404M19Rik |
MMRRC Submission |
041054-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4237 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78084218-78096589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78095752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 128
(N128S)
|
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 benign
Transcript: ENSMUST00000078099
AA Change: N41S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000086022 Gene: ENSMUSG00000044122 AA Change: N41S
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 benign
Transcript: ENSMUST00000108317
AA Change: N128S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103953 Gene: ENSMUSG00000044122 AA Change: N128S
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
6820408C15Rik |
C |
T |
2: 152,270,873 (GRCm39) |
T32I |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
Galnt11 |
G |
A |
5: 25,470,258 (GRCm39) |
R569Q |
probably benign |
Het |
Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
Het |
Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
Het |
Zfp184 |
G |
A |
13: 22,142,948 (GRCm39) |
R218H |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGGAGCGGATCTGGTAC -3'
(R):5'- AAGACTCCGACTTCACTGGG -3'
Sequencing Primer
(F):5'- GTACAGCTGGTGAGTGCC -3'
(R):5'- CACTGGGGTTTTCTTCTTAGTTAAC -3'
|
Posted On |
2015-06-12 |