Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Ipo8'

5342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo8

Ensembl Gene

ENSMUSG00000040029

Gene Name

importin 8

Synonyms

OM-1, Om1, C130009K11Rik, Ranbp8, 6230418K12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

148770683-148831467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148782786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 836 (M836K)

Ref Sequence

ENSEMBL: ENSMUSP00000046759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048418]

AlphaFold

Q7TMY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048418
AA Change: M836K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: M836K

Domain	Start	End	E-Value	Type
IBN_N	22	102	1.59e-13	SMART
Pfam:Cse1	166	470	6.6e-11	PFAM
low complexity region	895	908	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204016

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Ipo8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Ipo8	APN	6	148789063	splice site	probably benign
IGL01124:Ipo8	APN	6	148777376	missense	probably benign
IGL01978:Ipo8	APN	6	148777289	missense	probably benign	0.25
IGL02111:Ipo8	APN	6	148799780	missense	probably damaging	1.00
IGL02193:Ipo8	APN	6	148777284	missense	probably damaging	0.96
IGL02589:Ipo8	APN	6	148809907	missense	probably damaging	0.98
IGL02690:Ipo8	APN	6	148777363	missense	probably benign
IGL02724:Ipo8	APN	6	148791481	nonsense	probably null
IGL02935:Ipo8	APN	6	148789841	missense	probably benign	0.03
IGL03027:Ipo8	APN	6	148777239	missense	probably benign	0.01
IGL03065:Ipo8	APN	6	148784707	missense	probably benign	0.44
IGL03338:Ipo8	APN	6	148800257	missense	probably benign	0.01
important	UTSW	6	148816497	nonsense	probably null
R0032:Ipo8	UTSW	6	148810711	missense	probably damaging	0.99
R0032:Ipo8	UTSW	6	148810711	missense	probably damaging	0.99
R0088:Ipo8	UTSW	6	148801936	missense	probably benign	0.27
R0373:Ipo8	UTSW	6	148775042	missense	probably benign	0.00
R0539:Ipo8	UTSW	6	148818108	missense	probably benign	0.00
R0565:Ipo8	UTSW	6	148786723	missense	probably damaging	1.00
R0660:Ipo8	UTSW	6	148800213	missense	probably benign	0.02
R0664:Ipo8	UTSW	6	148800213	missense	probably benign	0.02
R0791:Ipo8	UTSW	6	148821727	missense	possibly damaging	0.94
R0989:Ipo8	UTSW	6	148796682	missense	probably benign	0.38
R1416:Ipo8	UTSW	6	148789093	missense	probably benign
R1417:Ipo8	UTSW	6	148818052	missense	probably benign	0.02
R1590:Ipo8	UTSW	6	148810665	splice site	probably null
R1703:Ipo8	UTSW	6	148789892	missense	probably benign	0.00
R1709:Ipo8	UTSW	6	148782728	missense	probably benign
R2079:Ipo8	UTSW	6	148789162	missense	probably damaging	1.00
R2338:Ipo8	UTSW	6	148789823	missense	probably benign	0.00
R2359:Ipo8	UTSW	6	148816477	splice site	probably benign
R2696:Ipo8	UTSW	6	148796741	missense	probably benign	0.01
R3407:Ipo8	UTSW	6	148821709	missense	probably benign	0.03
R3408:Ipo8	UTSW	6	148821709	missense	probably benign	0.03
R3709:Ipo8	UTSW	6	148806344	splice site	probably null
R3710:Ipo8	UTSW	6	148806344	splice site	probably null
R3945:Ipo8	UTSW	6	148818117	missense	probably damaging	1.00
R4326:Ipo8	UTSW	6	148800164	unclassified	probably benign
R4329:Ipo8	UTSW	6	148800164	unclassified	probably benign
R6105:Ipo8	UTSW	6	148798670	missense	probably damaging	1.00
R6148:Ipo8	UTSW	6	148799780	missense	probably damaging	1.00
R6359:Ipo8	UTSW	6	148777250	missense	probably benign	0.01
R6377:Ipo8	UTSW	6	148816497	nonsense	probably null
R6724:Ipo8	UTSW	6	148809975	splice site	probably null
R7283:Ipo8	UTSW	6	148824481	missense	possibly damaging	0.86
R7436:Ipo8	UTSW	6	148789805	missense	probably benign	0.13
R7445:Ipo8	UTSW	6	148789817	missense	probably benign	0.09
R8044:Ipo8	UTSW	6	148809923	missense	probably damaging	1.00
R8209:Ipo8	UTSW	6	148796678	missense	possibly damaging	0.93
R8812:Ipo8	UTSW	6	148775077	missense	possibly damaging	0.64
R8943:Ipo8	UTSW	6	148775049	missense	probably benign	0.00
R9067:Ipo8	UTSW	6	148777232	missense	probably damaging	1.00
R9129:Ipo8	UTSW	6	148798627	missense	probably benign	0.05
R9297:Ipo8	UTSW	6	148801578	missense	possibly damaging	0.63
R9419:Ipo8	UTSW	6	148784566	missense	probably benign	0.15
Z1177:Ipo8	UTSW	6	148796712	missense	probably damaging	0.99

Posted On

2012-04-20