Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02351:Aktip'

289474

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 #

IGL02351

Quality Score

Status

Chromosome

Chromosomal Location

91834267-91862122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91853520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 96 (V96I)

Ref Sequence

ENSEMBL: ENSMUSP00000119277 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000109609
AA Change: V96I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: V96I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120213
AA Change: V96I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: V96I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120349
AA Change: V96I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: V96I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120426
AA Change: V96I

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: V96I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125257
AA Change: V96I

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: V96I

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: ENSMUST00000209518

Predicted Effect

probably benign
Transcript: ENSMUST00000209444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210426

Predicted Effect

probably benign
Transcript: ENSMUST00000211136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211042

Predicted Effect

probably benign
Transcript: ENSMUST00000211050

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Skap1	T	A	11: 96,599,382 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	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
IGL02358:Aktip	APN	8	91,853,520 (GRCm39)	missense	possibly damaging	0.73
IGL03085:Aktip	APN	8	91,852,651 (GRCm39)	critical splice donor site	probably null
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

2015-04-16