Incidental Mutation 'R0315:Gpbp1'
| ID |
25416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1
|
| Ensembl Gene |
ENSMUSG00000032745 |
| Gene Name |
GC-rich promoter binding protein 1 |
| Synonyms |
D230035M11Rik, 1700034P14Rik |
| MMRRC Submission |
038525-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0315 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111562214-111626645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111573072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 360
(E360A)
|
| 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: E360A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: E360A
| 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: E340A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: E340A
| 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 |
0.0592 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
| Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
| Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
| Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
| Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
| Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
| Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
| Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
| Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
| Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
| Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
| Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
| Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
| Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
| Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTAACCTGTGTTCTGCCTCTAGTGA -3'
(R):5'- ACCTTAGCCTACTCGTCAAAGACTGAA -3'
Sequencing Primer
(F):5'- TCTGCCTCTAGTGAACTGGAAAG -3'
(R):5'- ctgtagcctgtagcaggaag -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation