Incidental Mutation 'R6745:Gpbp1'
| ID |
530546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111589919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 59
(R59C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047627]
[ENSMUST00000091236]
[ENSMUST00000136471]
[ENSMUST00000231096]
|
| AlphaFold |
Q6NXH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047627
AA Change: R59C
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: R59C
| 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: R59C
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: R59C
| 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
AA Change: R59C
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231096
AA Change: R59C
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
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 |
|
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 |
|
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'- ATTTCTGCCATGCGTACGC -3'
(R):5'- CTTGGAAGTAACTGCCTGTATTC -3'
Sequencing Primer
(F):5'- CCATGCGTACGCCATCC -3'
(R):5'- GGAAGTAACTGCCTGTATTCTTAATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation