Incidental Mutation 'R4307:Gpbp1'
| ID |
324071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| MMRRC Submission |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 111585517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 68
(*68W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047627]
[ENSMUST00000091236]
[ENSMUST00000136471]
[ENSMUST00000231096]
|
| AlphaFold |
Q6NXH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047627
AA Change: E143G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: E143G
| 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: E143G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: E143G
| 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 null
Transcript: ENSMUST00000136471
AA Change: *68W
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156221
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231096
AA Change: E143G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,573,792 (GRCm39) |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,531,649 (GRCm39) |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,512,744 (GRCm39) |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,237 (GRCm39) |
E504G |
probably damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,712 (GRCm39) |
Q349* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,154,879 (GRCm39) |
S333P |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,769,102 (GRCm39) |
Y481D |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,937 (GRCm39) |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 95,960,756 (GRCm39) |
|
probably benign |
Het |
| Mrtfa |
G |
A |
15: 80,900,548 (GRCm39) |
L648F |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,140,444 (GRCm39) |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,633,174 (GRCm39) |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,099 (GRCm39) |
S1597T |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,869,093 (GRCm39) |
H560Q |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,707,481 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,649 (GRCm39) |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,423 (GRCm39) |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,707 (GRCm39) |
F80I |
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 |
|
|
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 |
|
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 |
|
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'- GGTATCTAAGCACATCAAATGCAG -3'
(R):5'- TATCTCTCAGGCAGTAAGATGAAG -3'
Sequencing Primer
(F):5'- ATGCAGCTACTAAAGAGTTTTACTG -3'
(R):5'- GTCTCCAACTAGCAATGGTTAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation