Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ipo8'

672485

Institutional Source

Beutler Lab

Gene Symbol

Ipo8

Ensembl Gene

ENSMUSG00000040029

Gene Name

importin 8

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148770683-148831467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148775077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 971 (D971E)

Ref Sequence

ENSEMBL: ENSMUSP00000046759 (fasta)

Gene Model

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

AlphaFold

Q7TMY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048418
AA Change: D971E

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: D971E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	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
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
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'- ATGAAGGGCTCATTTCATGAAGCC -3'
(R):5'- TCCTTGGGGCTCCTCATAGTTG -3'

Sequencing Primer
(F):5'- GCCATTTTAATCACGTAAGCCAG -3'
(R):5'- CCTCATAGTTGGGTATCAAGTAGGCC -3'

Posted On

2021-04-30