Incidental Mutation 'R6687:Gpbp1'
| ID |
527841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111574619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 302
(N302D)
|
| 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: N302D
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: N302D
| 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: N282D
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: N282D
| 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
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
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 |
|
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'- TGCTAACATAGGCTTAGCAGG -3'
(R):5'- CACTGTTAGACGTTTACTTTGAACC -3'
Sequencing Primer
(F):5'- TGTCAAGGTTCTAATTATTTACCCAC -3'
(R):5'- GAACTGTGTTTGACCTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation