Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Ipp'

180547

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 #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

116364746-116395440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116367852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 28 (N28K)

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: N28K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: N28K

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: N28K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: N28K

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly 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
IGL01399:Ipp	APN	4	116,372,384 (GRCm39)	missense	probably damaging	1.00
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

2014-05-07