Incidental Mutation 'IGL03329:Gpbp1'
| ID |
416818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 111589787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047627]
[ENSMUST00000091236]
[ENSMUST00000136471]
[ENSMUST00000231096]
|
| AlphaFold |
Q6NXH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047627
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
395 |
491 |
1.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091236
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
374 |
471 |
1.3e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231096
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,047 (GRCm39) |
D2598G |
probably benign |
Het |
| Abcf2 |
T |
G |
5: 24,776,246 (GRCm39) |
|
probably null |
Het |
| Acsl1 |
T |
A |
8: 46,946,031 (GRCm39) |
C55S |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,199,210 (GRCm39) |
M249L |
possibly damaging |
Het |
| Alk |
A |
G |
17: 72,206,159 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
G |
5: 88,609,527 (GRCm39) |
S78R |
probably benign |
Het |
| Apbb1ip |
T |
A |
2: 22,757,729 (GRCm39) |
V449D |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,152,883 (GRCm39) |
Y194* |
probably null |
Het |
| Cacul1 |
A |
T |
19: 60,531,489 (GRCm39) |
F260Y |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,181,081 (GRCm39) |
I2640T |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,841,108 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cimap2 |
G |
T |
4: 106,464,601 (GRCm39) |
R353S |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,530,902 (GRCm39) |
T276I |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,195,721 (GRCm39) |
Y310D |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,696,113 (GRCm39) |
V157I |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 148,899,758 (GRCm39) |
T1213K |
possibly damaging |
Het |
| Dusp8 |
A |
T |
7: 141,638,097 (GRCm39) |
L177* |
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,367,281 (GRCm39) |
S479G |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,608,661 (GRCm39) |
Q1507L |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,473,587 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,628,838 (GRCm39) |
E114G |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,562,660 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,060,209 (GRCm39) |
Y72C |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,917,647 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,671,126 (GRCm39) |
V490A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,084,803 (GRCm39) |
N720K |
probably damaging |
Het |
| Or2ah1 |
A |
C |
2: 85,653,729 (GRCm39) |
D138A |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,597 (GRCm39) |
V158A |
probably benign |
Het |
| Ppp2r3d |
T |
A |
9: 101,003,630 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,594,973 (GRCm39) |
D1941N |
probably benign |
Het |
| Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,546 (GRCm39) |
V319A |
probably benign |
Het |
| Slc12a3 |
A |
C |
8: 95,092,519 (GRCm39) |
Q980P |
possibly damaging |
Het |
| Slc39a8 |
G |
T |
3: 135,590,474 (GRCm39) |
G389V |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,348 (GRCm39) |
I135T |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,739,568 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,645 (GRCm39) |
F535S |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,254 (GRCm39) |
V501A |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,603 (GRCm39) |
N6K |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,637,360 (GRCm39) |
C711Y |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,864,262 (GRCm39) |
L136F |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,234,306 (GRCm39) |
Q437R |
probably benign |
Het |
| Zfp169 |
C |
A |
13: 48,644,270 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,403,295 (GRCm39) |
I584F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,808,099 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Gpbp1
|
APN |
13 |
111,577,284 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01360:Gpbp1
|
APN |
13 |
111,563,075 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01609:Gpbp1
|
APN |
13 |
111,575,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01747:Gpbp1
|
APN |
13 |
111,589,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02614:Gpbp1
|
APN |
13 |
111,573,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0315:Gpbp1
|
UTSW |
13 |
111,573,072 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0510:Gpbp1
|
UTSW |
13 |
111,577,279 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1549:Gpbp1
|
UTSW |
13 |
111,573,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1582:Gpbp1
|
UTSW |
13 |
111,573,066 (GRCm39) |
splice site |
probably null |
|
|
R1762:Gpbp1
|
UTSW |
13 |
111,577,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2074:Gpbp1
|
UTSW |
13 |
111,589,941 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2276:Gpbp1
|
UTSW |
13 |
111,603,512 (GRCm39) |
splice site |
probably null |
|
|
R3685:Gpbp1
|
UTSW |
13 |
111,603,405 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4307:Gpbp1
|
UTSW |
13 |
111,585,517 (GRCm39) |
makesense |
probably null |
|
|
R4408:Gpbp1
|
UTSW |
13 |
111,585,498 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4840:Gpbp1
|
UTSW |
13 |
111,577,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4952:Gpbp1
|
UTSW |
13 |
111,577,284 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5152:Gpbp1
|
UTSW |
13 |
111,589,815 (GRCm39) |
intron |
probably benign |
|
|
R5376:Gpbp1
|
UTSW |
13 |
111,563,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Gpbp1
|
UTSW |
13 |
111,603,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6378:Gpbp1
|
UTSW |
13 |
111,570,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Gpbp1
|
UTSW |
13 |
111,589,636 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6687:Gpbp1
|
UTSW |
13 |
111,574,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6745:Gpbp1
|
UTSW |
13 |
111,589,919 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7186:Gpbp1
|
UTSW |
13 |
111,577,233 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7310:Gpbp1
|
UTSW |
13 |
111,589,924 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7669:Gpbp1
|
UTSW |
13 |
111,575,658 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7881:Gpbp1
|
UTSW |
13 |
111,575,733 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8994:Gpbp1
|
UTSW |
13 |
111,603,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9142:Gpbp1
|
UTSW |
13 |
111,563,033 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation