Incidental Mutation 'R1582:Gpbp1'
| ID |
171492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| MMRRC Submission |
039619-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1582 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2697 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 111573066 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 damaging
Transcript: ENSMUST00000047627
AA Change: D362G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: D362G
| 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 damaging
Transcript: ENSMUST00000091236
AA Change: D342G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: D342G
| 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 null
Transcript: ENSMUST00000231096
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
C |
G |
2: 31,690,371 (GRCm39) |
A630G |
probably damaging |
Het |
| Actr3 |
A |
G |
1: 125,333,662 (GRCm39) |
Y202H |
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,494,264 (GRCm39) |
T138A |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 153,855,638 (GRCm39) |
S188P |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,982,291 (GRCm39) |
T3821A |
unknown |
Het |
| Dcun1d2 |
A |
G |
8: 13,330,926 (GRCm39) |
L68P |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,842,566 (GRCm39) |
L630I |
probably damaging |
Het |
| Ddx25 |
T |
C |
9: 35,457,272 (GRCm39) |
T348A |
probably damaging |
Het |
| Dtnb |
C |
T |
12: 3,823,554 (GRCm39) |
T580M |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,074,749 (GRCm39) |
S561G |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,771,995 (GRCm39) |
I101T |
possibly damaging |
Het |
| Erich3 |
T |
C |
3: 154,469,960 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,068,398 (GRCm39) |
T611A |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,695 (GRCm39) |
T218S |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,122,092 (GRCm39) |
L152F |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,947,398 (GRCm39) |
V862A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,299 (GRCm39) |
T1065A |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,621,744 (GRCm39) |
A697T |
probably benign |
Het |
| Mosmo |
A |
G |
7: 120,329,728 (GRCm39) |
I116M |
possibly damaging |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,567,817 (GRCm39) |
M321L |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,572,892 (GRCm39) |
N670K |
probably benign |
Het |
| Or1e1c |
T |
A |
11: 73,266,090 (GRCm39) |
C172S |
probably damaging |
Het |
| Or5e1 |
G |
T |
7: 108,354,317 (GRCm39) |
V85L |
probably benign |
Het |
| Or6z3 |
A |
G |
7: 6,463,813 (GRCm39) |
M102V |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,682,429 (GRCm39) |
I375T |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,263,877 (GRCm39) |
I188V |
probably benign |
Het |
| Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
| Relt |
C |
T |
7: 100,500,560 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
| Smarca2 |
G |
A |
19: 26,729,305 (GRCm39) |
D19N |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,258,814 (GRCm39) |
G620D |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,181,038 (GRCm39) |
Q46K |
probably benign |
Het |
| Spata6 |
C |
G |
4: 111,637,992 (GRCm39) |
S274* |
probably null |
Het |
| Spata6 |
C |
T |
4: 111,637,994 (GRCm39) |
P275S |
probably benign |
Het |
| Tas2r108 |
T |
A |
6: 40,470,566 (GRCm39) |
V14D |
probably benign |
Het |
| Thbs2 |
G |
T |
17: 14,891,550 (GRCm39) |
P996T |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,839,090 (GRCm39) |
Q620R |
probably damaging |
Het |
| Ubap2l |
A |
G |
3: 89,941,978 (GRCm39) |
S203P |
probably damaging |
Het |
| Unc45b |
G |
A |
11: 82,816,771 (GRCm39) |
G404S |
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,664,811 (GRCm39) |
S292P |
possibly damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,655 (GRCm39) |
C444S |
probably damaging |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,484 (GRCm39) |
V188D |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,002,143 (GRCm39) |
D39G |
probably damaging |
Het |
| Wdr25 |
T |
C |
12: 108,863,980 (GRCm39) |
F42L |
possibly 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 |
|
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACCAGTGACTACCAAAATGAAGGT -3'
(R):5'- TGTAGGACTGAGTCCAGCAGGGATA -3'
Sequencing Primer
(F):5'- tcccagcactcaggagac -3'
(R):5'- TTTCTTTCATCTTCATCTTTTTGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation