Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Aktip'

181480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aktip

Ensembl Gene

ENSMUSG00000031667

Gene Name

thymoma viral proto-oncogene 1 interacting protein

Synonyms

Ft1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

91111784-91199976 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91126225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 159 (D159G)

Ref Sequence

ENSEMBL: ENSMUSP00000119277 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000109609
AA Change: D159G

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

SMART Domains

Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: D159G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120213
AA Change: D159G

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

SMART Domains

Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: D159G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120349
AA Change: D159G

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

SMART Domains

Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: D159G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120426
AA Change: D159G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: D159G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125257
AA Change: D159G

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

SMART Domains

Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: D159G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153201

Predicted Effect

probably benign
Transcript: ENSMUST00000209311

Predicted Effect

probably benign
Transcript: ENSMUST00000209444

Predicted Effect

probably benign
Transcript: ENSMUST00000209518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211042

Predicted Effect

probably benign
Transcript: ENSMUST00000211136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211618

Predicted Effect

probably benign
Transcript: ENSMUST00000211050

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Aktip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Aktip	APN	8	91126892	missense	possibly damaging	0.73
IGL02358:Aktip	APN	8	91126892	missense	possibly damaging	0.73
IGL03085:Aktip	APN	8	91126023	critical splice donor site	probably null
R1564:Aktip	UTSW	8	91131081	start codon destroyed	probably null	0.94
R1809:Aktip	UTSW	8	91129720	missense	probably damaging	1.00
R1851:Aktip	UTSW	8	91125877	missense	possibly damaging	0.93
R4067:Aktip	UTSW	8	91125838	missense	possibly damaging	0.87
R4455:Aktip	UTSW	8	91124851	missense	probably benign	0.00
R5052:Aktip	UTSW	8	91129651	missense	possibly damaging	0.47
R5330:Aktip	UTSW	8	91126724	missense	probably damaging	0.98
R6134:Aktip	UTSW	8	91129760	missense	probably damaging	1.00
R6178:Aktip	UTSW	8	91126043	missense	probably damaging	0.98
R6984:Aktip	UTSW	8	91126718	missense	probably damaging	1.00
R7672:Aktip	UTSW	8	91129657	missense	possibly damaging	0.67
R8213:Aktip	UTSW	8	91124866	missense	possibly damaging	0.51
R8386:Aktip	UTSW	8	91131046	missense	probably benign	0.04
R8850:Aktip	UTSW	8	91126774	missense	probably benign	0.00
R9712:Aktip	UTSW	8	91129727	missense	probably damaging	1.00

Posted On

2014-05-07