Incidental Mutation 'R2297:Pimreg'
ID |
245209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pimreg
|
Ensembl Gene |
ENSMUSG00000020808 |
Gene Name |
PICALM interacting mitotic regulator |
Synonyms |
CATS, Fam64a, 6720460F02Rik, 2610008F03Rik |
MMRRC Submission |
040296-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2297 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
71932867-71938197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71933906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 11
(S11P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021164]
[ENSMUST00000075258]
[ENSMUST00000108508]
[ENSMUST00000122871]
[ENSMUST00000125655]
|
AlphaFold |
Q8BFY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021164
AA Change: S11P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021164 Gene: ENSMUSG00000020808 AA Change: S11P
Domain | Start | End | E-Value | Type |
Pfam:DUF1466
|
1 |
224 |
1.8e-104 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075258
|
SMART Domains |
Protein: ENSMUSP00000074737 Gene: ENSMUSG00000040543
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
Blast:DDHD
|
141 |
361 |
1e-105 |
BLAST |
DDHD
|
390 |
594 |
1.49e-91 |
SMART |
LNS2
|
739 |
870 |
2.12e-55 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108508
|
SMART Domains |
Protein: ENSMUSP00000104148 Gene: ENSMUSG00000040543
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
Blast:DDHD
|
125 |
345 |
1e-106 |
BLAST |
DDHD
|
374 |
578 |
1.49e-91 |
SMART |
LNS2
|
723 |
854 |
2.12e-55 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122871
AA Change: S11P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123099 Gene: ENSMUSG00000020808 AA Change: S11P
Domain | Start | End | E-Value | Type |
Pfam:DUF1466
|
1 |
77 |
1.3e-47 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125655
AA Change: S11P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119424 Gene: ENSMUSG00000020808 AA Change: S11P
Domain | Start | End | E-Value | Type |
Pfam:DUF1466
|
1 |
116 |
1.4e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127369
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133880
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
G |
A |
11: 3,840,127 (GRCm39) |
A90V |
probably damaging |
Het |
Aco2 |
A |
T |
15: 81,788,109 (GRCm39) |
D114V |
probably damaging |
Het |
Cop1 |
C |
T |
1: 159,080,124 (GRCm39) |
H185Y |
possibly damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,734,057 (GRCm39) |
D330G |
possibly damaging |
Het |
Dcaf6 |
T |
C |
1: 165,227,431 (GRCm39) |
Y232C |
probably damaging |
Het |
Ddx42 |
T |
G |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
Dtl |
A |
G |
1: 191,273,207 (GRCm39) |
V567A |
probably benign |
Het |
Fem1c |
T |
C |
18: 46,639,228 (GRCm39) |
K258R |
possibly damaging |
Het |
Galnt12 |
T |
A |
4: 47,113,834 (GRCm39) |
V84D |
probably damaging |
Het |
Grm1 |
T |
G |
10: 10,956,158 (GRCm39) |
D42A |
probably benign |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,952,797 (GRCm39) |
R109* |
probably null |
Het |
Or5c1 |
A |
G |
2: 37,222,155 (GRCm39) |
N132S |
probably benign |
Het |
Ppp1r16b |
G |
A |
2: 158,603,286 (GRCm39) |
E404K |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,108,386 (GRCm39) |
N50S |
probably benign |
Het |
Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
Tmem132d |
T |
C |
5: 128,345,608 (GRCm39) |
T305A |
possibly damaging |
Het |
Tnfrsf13b |
A |
G |
11: 61,038,271 (GRCm39) |
T185A |
probably benign |
Het |
Trdn |
C |
A |
10: 33,211,008 (GRCm39) |
P400Q |
probably damaging |
Het |
Zfp119b |
T |
A |
17: 56,246,355 (GRCm39) |
Y277F |
possibly damaging |
Het |
|
Other mutations in Pimreg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01946:Pimreg
|
APN |
11 |
71,935,804 (GRCm39) |
splice site |
probably benign |
|
R0751:Pimreg
|
UTSW |
11 |
71,933,939 (GRCm39) |
missense |
probably benign |
0.01 |
R1571:Pimreg
|
UTSW |
11 |
71,936,042 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1757:Pimreg
|
UTSW |
11 |
71,933,985 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3707:Pimreg
|
UTSW |
11 |
71,937,158 (GRCm39) |
unclassified |
probably benign |
|
R4494:Pimreg
|
UTSW |
11 |
71,935,964 (GRCm39) |
missense |
probably benign |
0.05 |
R6030:Pimreg
|
UTSW |
11 |
71,936,576 (GRCm39) |
missense |
probably benign |
0.13 |
R6030:Pimreg
|
UTSW |
11 |
71,936,576 (GRCm39) |
missense |
probably benign |
0.13 |
R8884:Pimreg
|
UTSW |
11 |
71,936,513 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1186:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1186:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1187:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1187:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1188:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1188:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1189:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1189:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1190:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1190:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1191:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1191:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1192:Pimreg
|
UTSW |
11 |
71,935,979 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1192:Pimreg
|
UTSW |
11 |
71,935,801 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCATGATGCCATTGGTCATC -3'
(R):5'- ACTTTCCAGGCGTTTCCAGG -3'
Sequencing Primer
(F):5'- TGGCATCCACAATTGCCC -3'
(R):5'- TTTCCAGGAGGGGCCGTTAC -3'
|
Posted On |
2014-10-30 |