Incidental Mutation 'IGL01609:Gpbp1'
| ID |
91907 |
| 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 # |
IGL01609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111575736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 256
(T256A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047627]
[ENSMUST00000091236]
[ENSMUST00000136471]
[ENSMUST00000231096]
|
| AlphaFold |
Q6NXH3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047627
AA Change: T256A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: T256A
| 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
AA Change: T236A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: T236A
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,722 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
| Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,008,088 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,077,352 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
| Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
| Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
| Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
| Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,254,631 (GRCm39) |
|
probably null |
Het |
| Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
| Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
| Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
| Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
| Usp37 |
G |
A |
1: 74,514,199 (GRCm39) |
A324V |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
probably damaging |
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 |
|
|
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 |
|
IGL03329:Gpbp1
|
APN |
13 |
111,589,787 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation