Incidental Mutation 'IGL01946:Pimreg'
| ID |
180976 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pimreg
|
| Ensembl Gene |
ENSMUSG00000020808 |
| Gene Name |
PICALM interacting mitotic regulator |
| Synonyms |
CATS, Fam64a, 6720460F02Rik, 2610008F03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
71932867-71938197 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 71935804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021164]
[ENSMUST00000075258]
[ENSMUST00000108508]
[ENSMUST00000122871]
[ENSMUST00000125655]
|
| AlphaFold |
Q8BFY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021164
|
| SMART Domains |
Protein: ENSMUSP00000021164
Gene: ENSMUSG00000020808
| 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 benign
Transcript: ENSMUST00000122871
|
| SMART Domains |
Protein: ENSMUSP00000123099
Gene: ENSMUSG00000020808
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1466
|
1 |
77 |
1.3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125655
|
| SMART Domains |
Protein: ENSMUSP00000119424
Gene: ENSMUSG00000020808
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
| Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Pimreg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2297:Pimreg
|
UTSW |
11 |
71,933,906 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation