Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00926:Gpbp1l1'

27248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00926

Quality Score

Status

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 116587513 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr2	A	T	X: 21,486,285	M53L	probably benign	Het
Apob	T	C	12: 8,015,421	V4097A	probably benign	Het
Brip1	T	C	11: 86,148,401	K436E	possibly damaging	Het
Cadps	C	A	14: 12,491,795	R785L	probably damaging	Het
Cavin2	A	G	1: 51,300,877	K238E	probably damaging	Het
Ccdc158	G	A	5: 92,650,767	T358I	probably damaging	Het
Cds1	A	G	5: 101,809,901	I246M	probably damaging	Het
Cep19	A	G	16: 32,107,080	E102G	probably damaging	Het
Clec4a1	T	A	6: 122,922,055	C28S	possibly damaging	Het
Csmd3	T	A	15: 47,710,964	Y2082F	possibly damaging	Het
Fbn1	T	A	2: 125,319,042	T2193S	possibly damaging	Het
Gm24124	G	T	19: 13,634,057		probably benign	Het
Helq	T	C	5: 100,765,082		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Itga3	G	A	11: 95,065,886	H122Y	probably damaging	Het
Mettl18	T	A	1: 163,996,226	S39T	possibly damaging	Het
Ndst4	A	T	3: 125,561,453	T337S	probably benign	Het
Neb	A	G	2: 52,270,317		probably benign	Het
Nrbp1	T	C	5: 31,243,797	S6P	probably benign	Het
Olfr444	A	T	6: 42,956,436		probably benign	Het
Olfr618	A	G	7: 103,598,162	N282S	possibly damaging	Het
Olfr633	A	G	7: 103,946,997	T144A	probably benign	Het
Oprk1	A	G	1: 5,598,905	I191M	probably damaging	Het
Psap	T	C	10: 60,292,536	V69A	probably damaging	Het
Scn7a	C	T	2: 66,684,131	E1100K	probably benign	Het
Tmem145	A	G	7: 25,314,730	N423S	possibly damaging	Het
Tpd52	A	T	3: 8,947,632		probably null	Het
Trmt13	G	A	3: 116,590,235	Q58*	probably null	Het
Ttn	T	C	2: 76,758,781	E21346G	probably damaging	Het

Other mutations in Gpbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03342:Gpbp1l1	APN	4	116574543	missense	probably benign
R0534:Gpbp1l1	UTSW	4	116591268	missense	probably damaging	1.00
R0964:Gpbp1l1	UTSW	4	116581239	splice site	probably benign
R1136:Gpbp1l1	UTSW	4	116592918	missense	probably damaging	1.00
R1169:Gpbp1l1	UTSW	4	116574366	missense	possibly damaging	0.53
R3975:Gpbp1l1	UTSW	4	116570985	critical splice donor site	probably null
R4296:Gpbp1l1	UTSW	4	116587459	missense	possibly damaging	0.80
R4676:Gpbp1l1	UTSW	4	116590265	missense	probably damaging	1.00
R4870:Gpbp1l1	UTSW	4	116573517	missense	probably benign
R5086:Gpbp1l1	UTSW	4	116588592	missense	probably benign	0.04
R5931:Gpbp1l1	UTSW	4	116590260	missense	probably benign	0.00
R6486:Gpbp1l1	UTSW	4	116581375	missense	probably damaging	0.99
R6604:Gpbp1l1	UTSW	4	116573505	missense	probably benign	0.09
R6973:Gpbp1l1	UTSW	4	116581282	missense	possibly damaging	0.53
R7031:Gpbp1l1	UTSW	4	116592848	missense	probably damaging	1.00
R7230:Gpbp1l1	UTSW	4	116588610	missense	probably damaging	0.99
R7286:Gpbp1l1	UTSW	4	116590245	missense	probably benign	0.02
R7368:Gpbp1l1	UTSW	4	116573458	missense	probably benign	0.04
R7791:Gpbp1l1	UTSW	4	116574420	missense	probably damaging	1.00
R9475:Gpbp1l1	UTSW	4	116574361	missense	possibly damaging	0.87

Posted On

2013-04-17