Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Gpihbp1'

416315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpihbp1

Ensembl Gene

ENSMUSG00000022579

Gene Name

GPI-anchored HDL-binding protein 1

Synonyms

GPI-HBP1, 1110002J19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

75596628-75599481 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 75597978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 181 (Q181*)

Ref Sequence

ENSEMBL: ENSMUSP00000023243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023243] [ENSMUST00000189874] [ENSMUST00000189944]

AlphaFold

Q9D1N2

Predicted Effect

probably null
Transcript: ENSMUST00000023243
AA Change: Q181*

SMART Domains

Protein: ENSMUSP00000023243
Gene: ENSMUSG00000022579
AA Change: Q181*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	29	48	N/A	INTRINSIC
LU	61	148	8.32e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186934

Predicted Effect

probably benign
Transcript: ENSMUST00000189874

SMART Domains

Protein: ENSMUSP00000139792
Gene: ENSMUSG00000022579

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	29	48	N/A	INTRINSIC
Blast:LU	61	107	9e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000189944

SMART Domains

Protein: ENSMUSP00000139511
Gene: ENSMUSG00000022579

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	29	48	N/A	INTRINSIC
Blast:LU	61	97	4e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190119

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit milky plasma due to increased triglyceride and cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,870,077	E17G	possibly damaging	Het
A2m	T	A	6: 121,667,163	V940E	probably damaging	Het
Agap1	T	A	1: 89,665,152	V307D	probably damaging	Het
Amd1	A	G	10: 40,290,125	V286A	possibly damaging	Het
Chrne	T	C	11: 70,615,100	K453R	possibly damaging	Het
Ckm	T	A	7: 19,414,338		probably benign	Het
Ckmt1	A	G	2: 121,360,005	T138A	probably benign	Het
Cldn4	A	G	5: 134,946,249	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,546,766	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,727,812	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,926,710	I236T	probably benign	Het
Enam	G	T	5: 88,504,591	V1320L	probably benign	Het
Ezh1	A	C	11: 101,195,671		probably null	Het
F13b	A	T	1: 139,513,036	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,597,688	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,113,739	F163Y	possibly damaging	Het
Htr2b	T	C	1: 86,099,339		probably benign	Het
Igkv1-35	A	G	6: 70,011,651	I8T	probably benign	Het
Kcnq2	T	C	2: 181,082,389	T584A	probably benign	Het
Khdrbs3	A	G	15: 69,024,823	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,978,843	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,629,592	I188F	probably damaging	Het
Med1	G	T	11: 98,158,352	N539K	probably damaging	Het
Mga	T	A	2: 119,903,452	D260E	probably damaging	Het
Mnd1	A	G	3: 84,104,937	I155T	probably benign	Het
Msrb3	T	C	10: 120,784,141	D91G	probably benign	Het
Mycbp2	A	T	14: 103,247,758	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323		probably benign	Het
Nrsn2	T	C	2: 152,374,211	D24G	possibly damaging	Het
Olfr1262	A	T	2: 90,002,466	K20I	possibly damaging	Het
Osmr	T	A	15: 6,842,808	R268S	probably benign	Het
Pelo	C	A	13: 115,088,661	V343L	probably damaging	Het
Rp1	T	A	1: 4,344,817	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,228,012	Q33*	probably null	Het
Slfn2	G	A	11: 83,069,467	V91I	possibly damaging	Het
Socs6	G	T	18: 88,869,744	A349E	probably damaging	Het
Syt2	A	G	1: 134,741,911	N97D	probably benign	Het
Tas2r123	T	A	6: 132,847,438	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,590,725		probably benign	Het
Ube2s	A	T	7: 4,810,477	V35D	probably damaging	Het
Usp32	A	T	11: 85,022,832	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,578,009	E275D	probably benign	Het
Vps13c	A	G	9: 67,934,504	H1936R	probably benign	Het
Wrap73	C	A	4: 154,146,543	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,403,350	T2856M	probably damaging	Het
Zmym1	A	T	4: 127,049,134	I487N	probably damaging	Het

Other mutations in Gpihbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Gpihbp1	APN	15	75598128	intron	probably benign
IGL02108:Gpihbp1	APN	15	75597612	missense	probably benign	0.33
R0056:Gpihbp1	UTSW	15	75597133	missense	probably damaging	0.97
R0970:Gpihbp1	UTSW	15	75597946	missense	probably benign	0.06
R4347:Gpihbp1	UTSW	15	75598168	makesense	probably null
R5009:Gpihbp1	UTSW	15	75597721	intron	probably benign
R7900:Gpihbp1	UTSW	15	75597942	missense	probably benign	0.01
R8047:Gpihbp1	UTSW	15	75597778	missense	possibly damaging	0.85
R8797:Gpihbp1	UTSW	15	75597979	missense	possibly damaging	0.72
R9095:Gpihbp1	UTSW	15	75597792	missense	possibly damaging	0.95
R9159:Gpihbp1	UTSW	15	75597981	missense	possibly damaging	0.85
R9608:Gpihbp1	UTSW	15	75597763	missense	probably damaging	0.98

Posted On

2016-08-02