Mutagenetix > Incidental Mutations

Incidental Mutation 'R0669:Ipp'

62126

Institutional Source

Beutler Lab

Gene Symbol

Ipp

Ensembl Gene

ENSMUSG00000028696

Gene Name

IAP promoted placental gene

Synonyms

D4Jhu8, Mipp

MMRRC Submission

038854-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0669 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

116507549-116538243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116537876 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 536 (Y536C)

Ref Sequence

ENSEMBL: ENSMUSP00000102088 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030461
AA Change: Y536C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: Y536C

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

probably damaging
Transcript: ENSMUST00000106479
AA Change: Y536C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: Y536C

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

Meta Mutation Damage Score

0.8852

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,198,845	H71L	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcb11	C	A	2: 69,329,318	V10L	probably benign	Het
Abcb9	T	C	5: 124,062,887	T689A	probably damaging	Het
Adam22	A	G	5: 8,143,036		probably benign	Het
Adamts5	A	G	16: 85,899,726	I181T	probably benign	Het
Adamts9	A	T	6: 92,880,957	V231D	probably damaging	Het
Angptl6	C	T	9: 20,876,527	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,528	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,467,949	V110A	probably benign	Het
Ccdc32	A	G	2: 119,019,167		probably benign	Het
Cela3b	T	C	4: 137,428,530	H22R	probably benign	Het
Cep44	T	C	8: 56,540,973	T190A	possibly damaging	Het
Chsy1	T	C	7: 66,171,687	C557R	probably damaging	Het
Cntd1	A	G	11: 101,287,498	T308A	probably damaging	Het
Cutal	T	C	2: 34,885,866		probably benign	Het
Dgcr14	T	C	16: 17,907,555	Y221C	probably damaging	Het
Dna2	A	G	10: 62,956,989	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,693,704	S1418R	probably benign	Het
Dnpep	A	G	1: 75,311,778		probably benign	Het
Dock7	A	T	4: 98,987,479	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,881,238		probably benign	Het
Fam69b	A	G	2: 26,634,866	T93A	probably benign	Het
Fer1l6	T	C	15: 58,553,724		probably null	Het
Gm5592	T	C	7: 41,155,830		probably benign	Het
Krt72	T	C	15: 101,778,305	E402G	probably damaging	Het
Lamb3	T	C	1: 193,332,330	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120	T287S	probably benign	Het
Lipo3	T	A	19: 33,559,625	T232S	probably benign	Het
Lrrc63	G	A	14: 75,126,110	H194Y	probably benign	Het
Map3k13	A	G	16: 21,906,524	T416A	probably benign	Het
Mcm3	A	T	1: 20,804,929		probably null	Het
Mms22l	T	C	4: 24,517,223	V258A	probably benign	Het
Mrpl46	A	T	7: 78,782,883	L49*	probably null	Het
Mrs2	T	C	13: 24,993,759	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,419,268	Y403*	probably null	Het
Muc20	G	A	16: 32,794,480	P176S	unknown	Het
Mup21	C	T	4: 62,150,727	C9Y	unknown	Het
Mup-ps21	A	T	4: 62,030,770		noncoding transcript	Het
Mybph	T	G	1: 134,197,343		probably null	Het
Mypn	A	G	10: 63,134,923		probably benign	Het
Nav2	T	C	7: 49,408,683	S124P	probably damaging	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Numa1	A	C	7: 101,999,677	I872L	probably benign	Het
Olfr1206	A	T	2: 88,864,928	M108L	probably benign	Het
Olfr13	C	T	6: 43,174,004	T6I	probably benign	Het
Olfr293	A	G	7: 86,664,336	I225V	possibly damaging	Het
Olfr472	T	A	7: 107,903,239	I174K	probably damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pcdhb9	A	T	18: 37,402,255	N434I	probably damaging	Het
Pigq	A	T	17: 25,936,762		probably null	Het
Plxna2	T	G	1: 194,788,837	V972G	probably damaging	Het
Psma3	G	A	12: 70,988,495		probably benign	Het
Ptpn13	A	G	5: 103,556,109	T1336A	probably benign	Het
Rdh7	T	C	10: 127,884,729	D258G	probably benign	Het
Serpinb6c	A	G	13: 33,899,269	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,541,349	Y218F	probably benign	Het
Slc12a8	A	T	16: 33,550,904	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,706,200	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,289,164	I334L	probably benign	Het
Sorcs1	A	G	19: 50,241,942		probably benign	Het
Taar8c	A	G	10: 24,101,503	L137P	probably damaging	Het
Tcam1	A	T	11: 106,285,426	D326V	possibly damaging	Het
Telo2	A	T	17: 25,105,823	V461D	probably benign	Het
Tmprss7	A	T	16: 45,677,962	C351*	probably null	Het
Trim66	T	A	7: 109,454,992		probably benign	Het
Ube2d1	G	T	10: 71,262,110	H32N	probably benign	Het
Ubp1	T	C	9: 113,964,668		probably benign	Het
Vma21	C	T	X: 71,820,157	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,787,420	S46P	probably benign	Het
Wars	T	C	12: 108,866,018	S374G	probably benign	Het
Wbp1	T	C	6: 83,119,345	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,473,785		noncoding transcript	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCAATGTTTTGCCATACCTACCC -3'
(R):5'- GCCTTCTCTGTCACAGTACAGCAAC -3'

Sequencing Primer
(F):5'- cgggaggcagagacagg -3'
(R):5'- GTACAGCAACACCCCCTTC -3'

Posted On

2013-07-30