Mutagenetix > Incidental Mutation

Incidental Mutation 'R7881:Gpbp1'

608779

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1

Ensembl Gene

ENSMUSG00000032745

Gene Name

GC-rich promoter binding protein 1

Synonyms

D230035M11Rik, 1700034P14Rik

MMRRC Submission

045933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111562214-111626645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111575733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 257 (S257T)

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: S257T

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: S257T

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: S237T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: S237T

Domain	Start	End	E-Value	Type
low complexity region	212	223	N/A	INTRINSIC
Pfam:Vasculin	374	471	1.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136471

Predicted Effect

probably benign
Transcript: ENSMUST00000231096

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,685 (GRCm39)	N1030S	possibly damaging	Het
4930507D05Rik	A	G	10: 62,285,303 (GRCm39)	H9R	unknown	Het
Anks1b	T	A	10: 90,802,880 (GRCm39)	S398T	probably benign	Het
Bbox1	T	A	2: 110,122,871 (GRCm39)	K139N	probably benign	Het
Birc6	C	A	17: 74,948,666 (GRCm39)	H3047N	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta1	G	A	4: 151,920,333 (GRCm39)	S18F	probably damaging	Het
Ccnb1ip1	T	C	14: 51,031,277 (GRCm39)	Y12C	possibly damaging	Het
Celsr3	G	A	9: 108,705,271 (GRCm39)	A585T	probably benign	Het
Col6a4	T	C	9: 105,957,497 (GRCm39)	N109S	probably benign	Het
Crisp4	A	T	1: 18,198,893 (GRCm39)	D180E	probably benign	Het
Dmxl1	T	A	18: 49,997,450 (GRCm39)	M546K	probably damaging	Het
Dnah11	C	T	12: 117,951,237 (GRCm39)	V3024I	probably benign	Het
Dnah2	T	C	11: 69,322,064 (GRCm39)	D3752G	probably damaging	Het
Dram1	G	T	10: 88,160,609 (GRCm39)	D237E	probably benign	Het
Ehbp1l1	T	C	19: 5,769,426 (GRCm39)	N626D	probably benign	Het
Elavl1	T	G	8: 4,361,763 (GRCm39)	N3T	probably damaging	Het
Fam184a	A	G	10: 53,574,589 (GRCm39)	V340A	probably benign	Het
Fer1l5	C	T	1: 36,446,117 (GRCm39)	T876M	not run	Het
Foxp2	T	A	6: 15,409,888 (GRCm39)	V471E	unknown	Het
Fstl5	G	A	3: 76,443,605 (GRCm39)	G317R	probably damaging	Het
Gm32742	T	C	9: 51,060,414 (GRCm39)	E963G	possibly damaging	Het
Gsdmc4	C	T	15: 63,769,568 (GRCm39)	C218Y	possibly damaging	Het
Hmg20b	T	C	10: 81,182,442 (GRCm39)	H298R	probably damaging	Het
Igf2r	A	T	17: 12,967,591 (GRCm39)	C72S	probably benign	Het
Kcnip1	A	G	11: 33,583,206 (GRCm39)	M193T	probably damaging	Het
Khdc1c	G	T	1: 21,439,899 (GRCm39)	C150F	probably benign	Het
Kmt2b	A	G	7: 30,279,208 (GRCm39)	S1485P	probably damaging	Het
Lnpep	A	G	17: 17,787,001 (GRCm39)	S533P	probably benign	Het
Megf8	T	A	7: 25,040,060 (GRCm39)	V997E	possibly damaging	Het
Mob2	T	C	7: 141,563,177 (GRCm39)	Y94C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Npepl1	A	G	2: 173,962,387 (GRCm39)	D351G	probably damaging	Het
Nrg1	G	A	8: 32,328,352 (GRCm39)	Q213*	probably null	Het
Nrp2	A	G	1: 62,810,990 (GRCm39)	D677G	probably benign	Het
Or11h7	A	G	14: 50,890,904 (GRCm39)	E70G	probably damaging	Het
Or2b4	G	T	17: 38,116,320 (GRCm39)	G95C	probably damaging	Het
Or56a3	G	T	7: 104,735,780 (GRCm39)	V286F	probably damaging	Het
Or5aq7	G	T	2: 86,938,401 (GRCm39)	T110K	probably damaging	Het
Or5m3b	C	A	2: 85,871,814 (GRCm39)	Q52K	probably benign	Het
Or8c8	T	A	9: 38,165,406 (GRCm39)	M228K	probably benign	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phaf1	C	A	8: 105,976,084 (GRCm39)	T347N	probably benign	Het
Prune2	G	A	19: 17,100,393 (GRCm39)	V1966I	possibly damaging	Het
Ptch2	A	G	4: 116,967,585 (GRCm39)	H751R	probably benign	Het
Ptges2	T	A	2: 32,292,243 (GRCm39)	M353K	probably damaging	Het
Pum3	G	A	19: 27,373,728 (GRCm39)	Q564*	probably null	Het
Qtrt1	A	G	9: 21,330,637 (GRCm39)	D279G	probably damaging	Het
Rftn1	C	T	17: 50,354,463 (GRCm39)	V300I	probably benign	Het
Robo2	T	C	16: 73,717,585 (GRCm39)	T1172A	probably benign	Het
Sdc3	A	G	4: 130,544,244 (GRCm39)	D74G	unknown	Het
Setd1b	A	G	5: 123,290,336 (GRCm39)	M768V	unknown	Het
Shld2	A	T	14: 33,989,724 (GRCm39)	M394K	possibly damaging	Het
Siglech	A	T	7: 55,422,289 (GRCm39)	H298L	probably benign	Het
Sipa1	A	T	19: 5,701,704 (GRCm39)	L977Q	probably damaging	Het
Slc9c1	G	A	16: 45,403,332 (GRCm39)	V800I	probably benign	Het
Spata31e1	A	G	13: 49,943,547 (GRCm39)	S44P	possibly damaging	Het
Spata31f1a	C	T	4: 42,851,586 (GRCm39)	C190Y	probably benign	Het
Tbc1d8	C	T	1: 39,425,104 (GRCm39)	R582Q	probably damaging	Het
Tmem247	T	A	17: 87,229,728 (GRCm39)	F190I	probably damaging	Het
Trim42	C	A	9: 97,245,070 (GRCm39)	A577S	possibly damaging	Het
Ubiad1	G	A	4: 148,528,726 (GRCm39)	T61I	probably benign	Het
Usp40	G	A	1: 87,923,435 (GRCm39)	Q279*	probably null	Het
Usp48	A	G	4: 137,360,766 (GRCm39)	N733S	probably benign	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xkr4	G	A	1: 3,286,487 (GRCm39)	P568S	probably damaging	Het
Zc3h7b	T	C	15: 81,664,679 (GRCm39)	W513R	probably damaging	Het
Zfp40	T	C	17: 23,410,440 (GRCm39)		probably benign	Het
Zfp652	T	A	11: 95,640,935 (GRCm39)	S287T	possibly damaging	Het
Znrf3	G	A	11: 5,394,533 (GRCm39)	A49V	unknown	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
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
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'- AGTACCTGGGAATCATACCCT -3'
(R):5'- CACAAGTGTCAAAGGAACATGAA -3'

Sequencing Primer
(F):5'- TGAGCTTCAGACCAACTTGG -3'
(R):5'- CAAGTGTCAAAGGAACATGAAGACAG -3'

Posted On

2019-12-20