Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Ipp'

27272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipp

Ensembl Gene

ENSMUSG00000028696

Gene Name

IAP promoted placental gene

Synonyms

D4Jhu8, Mipp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

116507549-116538243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116532659 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 471 (M471V)

Ref Sequence

ENSEMBL: ENSMUSP00000102088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030461] [ENSMUST00000106479]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030461
AA Change: M471V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: M471V

Domain	Start	End	E-Value	Type
BTB	37	134	5.37e-30	SMART
BACK	139	241	6.59e-29	SMART
Kelch	289	343	3.8e-9	SMART
Kelch	344	390	1.61e-12	SMART
Kelch	391	437	2.9e-14	SMART
Kelch	438	485	1.94e-15	SMART
Kelch	486	533	2.79e-16	SMART
Kelch	534	584	1.67e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106479
AA Change: M471V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: M471V

Domain	Start	End	E-Value	Type
BTB	37	134	5.37e-30	SMART
BACK	139	241	6.59e-29	SMART
Kelch	289	343	3.8e-9	SMART
Kelch	344	390	1.61e-12	SMART
Kelch	391	437	2.9e-14	SMART
Kelch	438	485	1.94e-15	SMART
Kelch	486	533	2.79e-16	SMART
Kelch	534	584	1.67e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Aldh3a2	A	G	11: 61,262,256	Y215H	probably damaging	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Mllt1	A	T	17: 56,895,086	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,524,755	H141L	probably benign	Het
Sept4	G	T	11: 87,589,773	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Ipp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Ipp	APN	4	116515187	missense	probably damaging	1.00
IGL01934:Ipp	APN	4	116510655	missense	probably damaging	0.99
IGL02805:Ipp	APN	4	116529688	missense	possibly damaging	0.92
Iguacu	UTSW	4	116537938	nonsense	probably null
R0582:Ipp	UTSW	4	116515467	missense	probably damaging	1.00
R0669:Ipp	UTSW	4	116537876	missense	probably damaging	1.00
R1121:Ipp	UTSW	4	116520675	missense	probably benign	0.00
R1394:Ipp	UTSW	4	116537912	nonsense	probably null
R1738:Ipp	UTSW	4	116530421	missense	probably benign	0.00
R2021:Ipp	UTSW	4	116515368	missense	probably benign	0.26
R3103:Ipp	UTSW	4	116524249	missense	possibly damaging	0.65
R4372:Ipp	UTSW	4	116515363	missense	possibly damaging	0.90
R4439:Ipp	UTSW	4	116515077	missense	probably benign	0.00
R4571:Ipp	UTSW	4	116530458	missense	probably damaging	1.00
R5134:Ipp	UTSW	4	116515457	missense	possibly damaging	0.65
R5503:Ipp	UTSW	4	116537938	nonsense	probably null
R5519:Ipp	UTSW	4	116510767	missense	possibly damaging	0.76
R5640:Ipp	UTSW	4	116520689	missense	possibly damaging	0.67
R5768:Ipp	UTSW	4	116510770	missense	probably damaging	1.00
R6867:Ipp	UTSW	4	116510409	splice site	probably null
R7575:Ipp	UTSW	4	116532644	missense	probably benign	0.20
R7851:Ipp	UTSW	4	116515475	nonsense	probably null
R7992:Ipp	UTSW	4	116524256	missense	probably damaging	1.00
R8069:Ipp	UTSW	4	116510856	missense	probably benign	0.11
Z1176:Ipp	UTSW	4	116537885	missense	probably null	1.00

Posted On

2013-04-17