Mutagenetix > Incidental Mutations

Incidental Mutation 'R0373:Ipo8'

30603

Institutional Source

Beutler Lab

Gene Symbol

Ipo8

Ensembl Gene

ENSMUSG00000040029

Gene Name

importin 8

Synonyms

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

MMRRC Submission

038579-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148770683-148831467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148775042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 983 (S983N)

Ref Sequence

ENSEMBL: ENSMUSP00000046759 (fasta)

Gene Model

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

AlphaFold

Q7TMY7

Predicted Effect

probably benign
Transcript: ENSMUST00000048418
AA Change: S983N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: S983N

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: ENSMUST00000136896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204424

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	Het

Other mutations in Ipo8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ipo8	APN	6	148782786	missense	possibly damaging	0.77
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCAGCTATATGACAGTGGAACTC -3'
(R):5'- GGTATCAAGTAGGCCCTCGGAAATG -3'

Sequencing Primer
(F):5'- CTTCATTATCATGAAGGGCTCATTTC -3'
(R):5'- AATGACTGTTGGGATCAGACTC -3'

Posted On

2013-04-24