Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02805:Ipp'

360395

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 #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

116507549-116538243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116529688 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 356 (I356V)

Ref Sequence

ENSEMBL: ENSMUSP00000102088 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030461
AA Change: I356V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: I356V

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: I356V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: I356V

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Ipp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ipp	APN	4	116532659	missense	possibly damaging	0.93
IGL01399:Ipp	APN	4	116515187	missense	probably damaging	1.00
IGL01934:Ipp	APN	4	116510655	missense	probably damaging	0.99
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

2015-12-18