Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Ipp'

79581

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

116364746-116395440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116372384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 138 (N138D)

Ref Sequence

ENSEMBL: ENSMUSP00000102088 (fasta)

Gene Model

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

AlphaFold

P28575

Predicted Effect

probably damaging
Transcript: ENSMUST00000030461
AA Change: N138D

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

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: N138D

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: N138D

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

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: N138D

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asic4	T	A	1: 75,445,790 (GRCm39)	N206K	possibly damaging	Het
Bsn	A	G	9: 107,984,386 (GRCm39)	Y3223H	unknown	Het
Btaf1	C	T	19: 36,977,570 (GRCm39)	R1463*	probably null	Het
Ccdc146	A	G	5: 21,499,611 (GRCm39)	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Chd5	T	C	4: 152,441,144 (GRCm39)	W195R	probably damaging	Het
Cntn1	A	G	15: 92,203,025 (GRCm39)	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,747,408 (GRCm39)	E435G	probably benign	Het
Dct	A	G	14: 118,273,890 (GRCm39)	F339S	probably damaging	Het
Ddx54	G	T	5: 120,761,968 (GRCm39)	E554*	probably null	Het
Dock3	G	T	9: 106,870,670 (GRCm39)	S581R	probably benign	Het
Dst	A	G	1: 34,156,598 (GRCm39)	H176R	probably benign	Het
Emc8	A	G	8: 121,385,745 (GRCm39)	M123T	probably damaging	Het
Evc	T	A	5: 37,490,357 (GRCm39)	D55V	probably damaging	Het
Gm5424	A	G	10: 61,907,272 (GRCm39)		noncoding transcript	Het
Gpr149	A	T	3: 62,511,852 (GRCm39)	L49Q	probably damaging	Het
Hcfc1	C	T	X: 72,993,515 (GRCm39)	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,167,393 (GRCm39)	Q263K	probably damaging	Het
Ift172	T	C	5: 31,423,592 (GRCm39)	E790G	probably benign	Het
Isg20	A	T	7: 78,569,836 (GRCm39)	T158S	possibly damaging	Het
Klf17	A	G	4: 117,616,356 (GRCm39)	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,370,161 (GRCm39)	L233P	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,651,470 (GRCm39)	L1544Q	probably damaging	Het
Nexmif	T	A	X: 103,130,786 (GRCm39)	D377V	probably damaging	Het
Nobox	T	C	6: 43,280,972 (GRCm39)	T501A	probably benign	Het
Noc3l	T	C	19: 38,804,099 (GRCm39)	D93G	possibly damaging	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nup205	T	C	6: 35,196,624 (GRCm39)	I1120T	possibly damaging	Het
Or5b96	A	T	19: 12,867,803 (GRCm39)	M46K	probably benign	Het
Or5h18	C	T	16: 58,847,629 (GRCm39)	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Selenof	C	T	3: 144,302,669 (GRCm39)	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997 (GRCm39)	G31V	probably damaging	Het
Slc35e1	C	A	8: 73,238,534 (GRCm39)	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,376,794 (GRCm39)	D1016G	probably damaging	Het
Synj2	T	G	17: 6,060,046 (GRCm39)	C149W	probably damaging	Het
Tecpr1	A	G	5: 144,145,411 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,594,164 (GRCm39)		probably null	Het
Vmn2r63	T	A	7: 42,553,543 (GRCm39)	K571M	probably damaging	Het
Wdr53	A	G	16: 32,070,718 (GRCm39)	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,780,819 (GRCm39)	L144S	probably damaging	Het
Zfp185	T	A	X: 72,043,654 (GRCm39)	S154T	probably damaging	Het

Other mutations in Ipp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ipp	APN	4	116,389,856 (GRCm39)	missense	possibly damaging	0.93
IGL01934:Ipp	APN	4	116,367,852 (GRCm39)	missense	probably damaging	0.99
IGL02805:Ipp	APN	4	116,386,885 (GRCm39)	missense	possibly damaging	0.92
Iguacu	UTSW	4	116,395,135 (GRCm39)	nonsense	probably null
R0582:Ipp	UTSW	4	116,372,664 (GRCm39)	missense	probably damaging	1.00
R0669:Ipp	UTSW	4	116,395,073 (GRCm39)	missense	probably damaging	1.00
R1121:Ipp	UTSW	4	116,377,872 (GRCm39)	missense	probably benign	0.00
R1394:Ipp	UTSW	4	116,395,109 (GRCm39)	nonsense	probably null
R1738:Ipp	UTSW	4	116,387,618 (GRCm39)	missense	probably benign	0.00
R2021:Ipp	UTSW	4	116,372,565 (GRCm39)	missense	probably benign	0.26
R3103:Ipp	UTSW	4	116,381,446 (GRCm39)	missense	possibly damaging	0.65
R4372:Ipp	UTSW	4	116,372,560 (GRCm39)	missense	possibly damaging	0.90
R4439:Ipp	UTSW	4	116,372,274 (GRCm39)	missense	probably benign	0.00
R4571:Ipp	UTSW	4	116,387,655 (GRCm39)	missense	probably damaging	1.00
R5134:Ipp	UTSW	4	116,372,654 (GRCm39)	missense	possibly damaging	0.65
R5503:Ipp	UTSW	4	116,395,135 (GRCm39)	nonsense	probably null
R5519:Ipp	UTSW	4	116,367,964 (GRCm39)	missense	possibly damaging	0.76
R5640:Ipp	UTSW	4	116,377,886 (GRCm39)	missense	possibly damaging	0.67
R5768:Ipp	UTSW	4	116,367,967 (GRCm39)	missense	probably damaging	1.00
R6867:Ipp	UTSW	4	116,367,606 (GRCm39)	splice site	probably null
R7575:Ipp	UTSW	4	116,389,841 (GRCm39)	missense	probably benign	0.20
R7851:Ipp	UTSW	4	116,372,672 (GRCm39)	nonsense	probably null
R7992:Ipp	UTSW	4	116,381,453 (GRCm39)	missense	probably damaging	1.00
R8069:Ipp	UTSW	4	116,368,053 (GRCm39)	missense	probably benign	0.11
Z1176:Ipp	UTSW	4	116,395,082 (GRCm39)	missense	probably null	1.00

Posted On

2013-11-05