Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Aktip'

418082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aktip

Ensembl Gene

ENSMUSG00000031667

Gene Name

AKT interacting protein

Synonyms

Ft1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

91834267-91862122 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 91852651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000109609] [ENSMUST00000120213] [ENSMUST00000120349] [ENSMUST00000120426] [ENSMUST00000125257] [ENSMUST00000209311] [ENSMUST00000209518] [ENSMUST00000211136] [ENSMUST00000209444]

AlphaFold

Q64362

Predicted Effect

probably benign
Transcript: ENSMUST00000034091

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
CYCLIN	44	131	5.81e-1	SMART
DUF3452	94	236	2.36e-77	SMART
low complexity region	301	313	N/A	INTRINSIC
RB_A	414	606	3.42e-106	SMART
low complexity region	722	733	N/A	INTRINSIC
low complexity region	758	771	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
CYCLIN	845	1008	2.86e-6	SMART
Rb_C	1019	1135	5.42e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109609

SMART Domains

Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120213

SMART Domains

Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120349

SMART Domains

Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120426

SMART Domains

Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125257

SMART Domains

Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210426

Predicted Effect

probably benign
Transcript: ENSMUST00000211050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211042

Predicted Effect

probably benign
Transcript: ENSMUST00000209518

Predicted Effect

probably benign
Transcript: ENSMUST00000211136

Predicted Effect

probably benign
Transcript: ENSMUST00000209444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211618

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	Het

Other mutations in Aktip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Aktip	APN	8	91,852,853 (GRCm39)	missense	probably damaging	1.00
IGL02351:Aktip	APN	8	91,853,520 (GRCm39)	missense	possibly damaging	0.73
IGL02358:Aktip	APN	8	91,853,520 (GRCm39)	missense	possibly damaging	0.73
R1564:Aktip	UTSW	8	91,857,709 (GRCm39)	start codon destroyed	probably null	0.94
R1809:Aktip	UTSW	8	91,856,348 (GRCm39)	missense	probably damaging	1.00
R1851:Aktip	UTSW	8	91,852,505 (GRCm39)	missense	possibly damaging	0.93
R4067:Aktip	UTSW	8	91,852,466 (GRCm39)	missense	possibly damaging	0.87
R4455:Aktip	UTSW	8	91,851,479 (GRCm39)	missense	probably benign	0.00
R5052:Aktip	UTSW	8	91,856,279 (GRCm39)	missense	possibly damaging	0.47
R5330:Aktip	UTSW	8	91,853,352 (GRCm39)	missense	probably damaging	0.98
R6134:Aktip	UTSW	8	91,856,388 (GRCm39)	missense	probably damaging	1.00
R6178:Aktip	UTSW	8	91,852,671 (GRCm39)	missense	probably damaging	0.98
R6984:Aktip	UTSW	8	91,853,346 (GRCm39)	missense	probably damaging	1.00
R7672:Aktip	UTSW	8	91,856,285 (GRCm39)	missense	possibly damaging	0.67
R8213:Aktip	UTSW	8	91,851,494 (GRCm39)	missense	possibly damaging	0.51
R8386:Aktip	UTSW	8	91,857,674 (GRCm39)	missense	probably benign	0.04
R8850:Aktip	UTSW	8	91,853,402 (GRCm39)	missense	probably benign	0.00
R9712:Aktip	UTSW	8	91,856,355 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02