Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Gpbp1l1'

312586

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 116570985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030460] [ENSMUST00000106475]

AlphaFold

Q6NZP2

Predicted Effect

probably null
Transcript: ENSMUST00000030460

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	376	470	5.1e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106475

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	377	470	1.3e-44	PFAM

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,547,729 (GRCm38)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,392,496 (GRCm38)		probably null	Het
Arap2	G	T	5: 62,748,894 (GRCm38)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,631,433 (GRCm38)	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,480,072 (GRCm38)	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267 (GRCm38)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173 (GRCm38)		probably null	Het
Ceacam16	C	A	7: 19,853,612 (GRCm38)	Q410H	probably damaging	Het
Cenpe	A	G	3: 135,235,225 (GRCm38)		probably null	Het
Cenpe	T	C	3: 135,238,472 (GRCm38)		probably null	Het
Clca1	A	T	3: 145,032,639 (GRCm38)	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245 (GRCm38)	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668 (GRCm38)	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541 (GRCm38)	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877 (GRCm38)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992 (GRCm38)	S2027P	possibly damaging	Het
Fam129a	T	C	1: 151,649,335 (GRCm38)	Y164H	probably damaging	Het
Fbxo18	T	C	2: 11,767,210 (GRCm38)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834 (GRCm38)	V171D	probably damaging	Het
Gm9825	A	T	6: 7,983,149 (GRCm38)		noncoding transcript	Het
Golgb1	T	G	16: 36,918,571 (GRCm38)	V2424G	probably damaging	Het
Gpx6	C	A	13: 21,317,658 (GRCm38)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm38)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747 (GRCm38)		probably null	Het
Lrba	T	C	3: 86,351,255 (GRCm38)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070 (GRCm38)	V157A	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,875 (GRCm38)	S439P	probably damaging	Het
Olfr1090	T	A	2: 86,754,543 (GRCm38)	H65L	probably damaging	Het
Olfr134	A	G	17: 38,175,495 (GRCm38)	N137S	probably benign	Het
Olfr141	G	A	2: 86,806,460 (GRCm38)	P180S	possibly damaging	Het
Olfr693	T	C	7: 106,677,785 (GRCm38)	R234G	probably damaging	Het
Orm3	A	T	4: 63,356,158 (GRCm38)		probably null	Het
Otof	A	G	5: 30,370,712 (GRCm38)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015 (GRCm38)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215 (GRCm38)	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206 (GRCm38)	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569 (GRCm38)	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366 (GRCm38)	S1379T	possibly damaging	Het
Rp1l1	T	A	14: 64,030,309 (GRCm38)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585 (GRCm38)	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813 (GRCm38)	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777 (GRCm38)	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635 (GRCm38)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807 (GRCm38)	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736 (GRCm38)	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930 (GRCm38)	V32A	probably benign	Het
Smc6	T	A	12: 11,274,074 (GRCm38)	F73L	probably damaging	Het
Sorbs2	T	C	8: 45,772,710 (GRCm38)		probably null	Het
Svbp	T	A	4: 119,195,893 (GRCm38)	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567 (GRCm38)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm38)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609 (GRCm38)	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653 (GRCm38)		probably benign	Het
Umodl1	C	A	17: 30,984,789 (GRCm38)	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,559,332 (GRCm38)	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169 (GRCm38)	G295D	probably benign	Het
Wisp3	C	G	10: 39,155,098 (GRCm38)	C143S	probably damaging	Het
Zim1	A	T	7: 6,677,130 (GRCm38)	H511Q	probably damaging	Het

Other mutations in Gpbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Gpbp1l1	APN	4	116,587,513 (GRCm38)	critical splice donor site	probably null
IGL03342:Gpbp1l1	APN	4	116,574,543 (GRCm38)	missense	probably benign
R0534:Gpbp1l1	UTSW	4	116,591,268 (GRCm38)	missense	probably damaging	1.00
R0964:Gpbp1l1	UTSW	4	116,581,239 (GRCm38)	splice site	probably benign
R1136:Gpbp1l1	UTSW	4	116,592,918 (GRCm38)	missense	probably damaging	1.00
R1169:Gpbp1l1	UTSW	4	116,574,366 (GRCm38)	missense	possibly damaging	0.53
R4296:Gpbp1l1	UTSW	4	116,587,459 (GRCm38)	missense	possibly damaging	0.80
R4676:Gpbp1l1	UTSW	4	116,590,265 (GRCm38)	missense	probably damaging	1.00
R4870:Gpbp1l1	UTSW	4	116,573,517 (GRCm38)	missense	probably benign
R5086:Gpbp1l1	UTSW	4	116,588,592 (GRCm38)	missense	probably benign	0.04
R5931:Gpbp1l1	UTSW	4	116,590,260 (GRCm38)	missense	probably benign	0.00
R6486:Gpbp1l1	UTSW	4	116,581,375 (GRCm38)	missense	probably damaging	0.99
R6604:Gpbp1l1	UTSW	4	116,573,505 (GRCm38)	missense	probably benign	0.09
R6973:Gpbp1l1	UTSW	4	116,581,282 (GRCm38)	missense	possibly damaging	0.53
R7031:Gpbp1l1	UTSW	4	116,592,848 (GRCm38)	missense	probably damaging	1.00
R7230:Gpbp1l1	UTSW	4	116,588,610 (GRCm38)	missense	probably damaging	0.99
R7286:Gpbp1l1	UTSW	4	116,590,245 (GRCm38)	missense	probably benign	0.02
R7368:Gpbp1l1	UTSW	4	116,573,458 (GRCm38)	missense	probably benign	0.04
R7791:Gpbp1l1	UTSW	4	116,574,420 (GRCm38)	missense	probably damaging	1.00
R9475:Gpbp1l1	UTSW	4	116,574,361 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACAGACTCCATTATTACACTGGTG -3'
(R):5'- AGAGACACTGGCATTAAGGTAC -3'

Sequencing Primer
(F):5'- ACTCCATTATTACACTGGTGTCATAC -3'
(R):5'- CAGATCCCCTGGAACTAAGTTATGG -3'

Posted On

2015-04-30