Mutagenetix > Incidental Mutation

Incidental Mutation 'R1394:Ipp'

162733

Institutional Source

Beutler Lab

Gene Symbol

Ipp

Ensembl Gene

ENSMUSG00000028696

Gene Name

IAP promoted placental gene

Synonyms

D4Jhu8, Mipp

MMRRC Submission

039456-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1394 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116364746-116395440 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116395109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 548 (L548*)

Ref Sequence

ENSEMBL: ENSMUSP00000102088 (fasta)

Gene Model

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

AlphaFold

P28575

Predicted Effect

probably null
Transcript: ENSMUST00000030461
AA Change: L548*

SMART Domains

Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: L548*

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 null
Transcript: ENSMUST00000106479
AA Change: L548*

SMART Domains

Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: L548*

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Casd1	T	G	6: 4,624,117 (GRCm39)	C303W	probably damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Cep290	T	C	10: 100,373,391 (GRCm39)	S1224P	possibly damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Cwc22	G	A	2: 77,759,823 (GRCm39)	R75C	possibly damaging	Het
Cyp4a30b	A	T	4: 115,328,089 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,936,099 (GRCm39)	D3298G	possibly damaging	Het
Drc3	T	C	11: 60,284,545 (GRCm39)	I450T	possibly damaging	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fkbp15	T	A	4: 62,246,109 (GRCm39)	M440L	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Itm2a	C	T	X: 106,441,807 (GRCm39)	V200I	possibly damaging	Het
Kank1	A	G	19: 25,405,528 (GRCm39)	N1182S	probably damaging	Het
Mkks	C	T	2: 136,722,882 (GRCm39)	G92S	probably damaging	Het
Mybbp1a	C	T	11: 72,334,474 (GRCm39)	P243L	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Pcdh12	A	G	18: 38,414,242 (GRCm39)		probably null	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Phlpp2	T	A	8: 110,603,662 (GRCm39)	C109*	probably null	Het
Prickle2	T	A	6: 92,353,363 (GRCm39)	H701L	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Psg19	T	C	7: 18,530,983 (GRCm39)	N57S	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Scyl2	T	A	10: 89,476,827 (GRCm39)	K766M	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Spin1	T	C	13: 51,298,517 (GRCm39)	Y179H	probably damaging	Het
Tecpr1	T	C	5: 144,143,357 (GRCm39)	T673A	possibly damaging	Het
Tenm3	T	A	8: 48,729,435 (GRCm39)	M1508L	probably benign	Het
Vasn	C	T	16: 4,467,576 (GRCm39)	R508*	probably null	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Zfand1	G	T	3: 10,411,269 (GRCm39)	T62K	probably benign	Het
Zfy1	C	T	Y: 725,957 (GRCm39)	V603I	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
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
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

Predicted Primers

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

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

Posted On

2014-03-17