Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ipo8'

672485

Institutional Source

Beutler Lab

Gene Symbol

Ipo8

Ensembl Gene

ENSMUSG00000040029

Gene Name

importin 8

Synonyms

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

MMRRC Submission

068647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148672181-148732965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148676575 bp (GRCm39)

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: 77,480,471 (GRCm39)	P1167Q	probably damaging	Het
Abtb3	A	G	10: 85,463,113 (GRCm39)	Q626R	probably damaging	Het
Adcy10	A	T	1: 165,378,867 (GRCm39)	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,940,055 (GRCm39)	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,441,062 (GRCm39)	M439K	probably benign	Het
Arl11	C	A	14: 61,548,422 (GRCm39)	Y77*	probably null	Het
Bcas3	T	C	11: 85,449,973 (GRCm39)	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,764,516 (GRCm39)	A136V	probably benign	Het
Ccne2	A	G	4: 11,202,279 (GRCm39)	T345A	probably benign	Het
Ciz1	T	C	2: 32,254,286 (GRCm39)	S76P	probably benign	Het
Clip4	A	T	17: 72,107,800 (GRCm39)	K94*	probably null	Het
Cthrc1	G	A	15: 38,947,866 (GRCm39)	R195H	probably damaging	Het
Ddx31	T	C	2: 28,730,816 (GRCm39)		probably benign	Het
Elf2	T	A	3: 51,174,188 (GRCm39)	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,535,324 (GRCm39)	N155S	probably benign	Het
Flnb	A	G	14: 7,887,624 (GRCm38)	D478G	probably benign	Het
Galm	T	A	17: 80,435,215 (GRCm39)	L24H	probably damaging	Het
Gask1b	T	C	3: 79,816,078 (GRCm39)	S363P	possibly damaging	Het
Gon4l	G	A	3: 88,802,314 (GRCm39)	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,667,783 (GRCm39)	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,350,367 (GRCm39)	M100K	probably damaging	Het
Itgax	C	T	7: 127,732,979 (GRCm39)	A286V	probably damaging	Het
Jpt2	T	C	17: 25,179,578 (GRCm39)	Q3R	probably benign	Het
Katnip	A	C	7: 125,396,867 (GRCm39)	R309S	probably benign	Het
Klrg2	A	C	6: 38,613,838 (GRCm39)	L55R	probably damaging	Het
Lrp6	T	A	6: 134,433,141 (GRCm39)	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,733,328 (GRCm39)	Q462L	probably benign	Het
Lyg2	T	A	1: 37,949,054 (GRCm39)	I103F	probably damaging	Het
Map10	T	C	8: 126,396,664 (GRCm39)	V19A	probably damaging	Het
Map1b	T	A	13: 99,569,323 (GRCm39)	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,631,481 (GRCm39)	V40A	probably benign	Het
Myh1	G	A	11: 67,099,967 (GRCm39)	G626R	probably benign	Het
Myo9a	T	C	9: 59,687,030 (GRCm39)	V45A	probably benign	Het
Ncdn	A	G	4: 126,638,905 (GRCm39)	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,174,213 (GRCm39)	M121K	probably damaging	Het
Nf1	T	C	11: 79,437,180 (GRCm39)	V16A	probably damaging	Het
Nktr	T	A	9: 121,579,317 (GRCm39)	D1128E	unknown	Het
Nup205	T	G	6: 35,191,269 (GRCm39)	L1000R	probably damaging	Het
Obscn	T	C	11: 58,925,921 (GRCm39)	E5604G	probably damaging	Het
Or1p4-ps1	T	A	11: 74,208,534 (GRCm39)	S228T	unknown	Het
Or2p2	T	C	13: 21,257,220 (GRCm39)	N84D	probably damaging	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c35	G	T	2: 89,808,715 (GRCm39)	A198S	possibly damaging	Het
Or51ah3	G	T	7: 103,209,816 (GRCm39)	C44F	probably benign	Het
Or5b96	A	T	19: 12,867,560 (GRCm39)	V127E	probably damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,392,462 (GRCm39)	I294F	probably damaging	Het
Ovch2	A	T	7: 107,393,251 (GRCm39)	C207*	probably null	Het
P3h2	T	A	16: 25,801,467 (GRCm39)	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,123,166 (GRCm39)	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,140,716 (GRCm39)	S782P	probably benign	Het
Pex1	T	C	5: 3,681,614 (GRCm39)	V980A	probably benign	Het
Pik3c2a	G	T	7: 115,951,112 (GRCm39)	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,049,239 (GRCm39)	*161R	probably null	Het
Ppp1r26	T	A	2: 28,341,192 (GRCm39)	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,167,275 (GRCm39)	V830A	probably benign	Het
Pramel34	T	C	5: 93,785,660 (GRCm39)	T207A	possibly damaging	Het
Prss1	T	A	6: 41,439,520 (GRCm39)	N84K	probably benign	Het
Rab3il1	G	A	19: 10,004,141 (GRCm39)	A18T	probably damaging	Het
Sbf2	A	T	7: 109,929,069 (GRCm39)	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,263,371 (GRCm39)	D45V	probably damaging	Het
Sik3	G	T	9: 46,089,811 (GRCm39)	V275L	probably benign	Het
Skint6	C	A	4: 112,846,149 (GRCm39)	M659I	probably benign	Het
Slc24a1	T	A	9: 64,835,985 (GRCm39)	D714V	unknown	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Stradb	A	G	1: 59,033,478 (GRCm39)	I380M	probably benign	Het
Sult1e1	T	C	5: 87,735,501 (GRCm39)	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,688,702 (GRCm39)	A64T	probably benign	Het
Tep1	C	T	14: 51,074,589 (GRCm39)	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,311 (GRCm39)	C152S	unknown	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Vmn1r15	A	G	6: 57,235,123 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,436 (GRCm39)		probably benign	Het
Vmn1r75	A	G	7: 11,614,630 (GRCm39)	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,477,669 (GRCm39)	F241L	probably damaging	Het
Vmn2r66	A	G	7: 84,654,893 (GRCm39)	L472P	probably damaging	Het
Ylpm1	G	T	12: 85,043,566 (GRCm39)	W101C	unknown	Het
Zdbf2	C	A	1: 63,347,272 (GRCm39)	H1884N	probably benign	Het
Zfp1005	T	A	2: 150,109,624 (GRCm39)	C105S	possibly damaging	Het

Other mutations in Ipo8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ipo8	APN	6	148,684,284 (GRCm39)	missense	possibly damaging	0.77
IGL01012:Ipo8	APN	6	148,690,561 (GRCm39)	splice site	probably benign
IGL01124:Ipo8	APN	6	148,678,874 (GRCm39)	missense	probably benign
IGL01978:Ipo8	APN	6	148,678,787 (GRCm39)	missense	probably benign	0.25
IGL02111:Ipo8	APN	6	148,701,278 (GRCm39)	missense	probably damaging	1.00
IGL02193:Ipo8	APN	6	148,678,782 (GRCm39)	missense	probably damaging	0.96
IGL02589:Ipo8	APN	6	148,711,405 (GRCm39)	missense	probably damaging	0.98
IGL02690:Ipo8	APN	6	148,678,861 (GRCm39)	missense	probably benign
IGL02724:Ipo8	APN	6	148,692,979 (GRCm39)	nonsense	probably null
IGL02935:Ipo8	APN	6	148,691,339 (GRCm39)	missense	probably benign	0.03
IGL03027:Ipo8	APN	6	148,678,737 (GRCm39)	missense	probably benign	0.01
IGL03065:Ipo8	APN	6	148,686,205 (GRCm39)	missense	probably benign	0.44
IGL03338:Ipo8	APN	6	148,701,755 (GRCm39)	missense	probably benign	0.01
important	UTSW	6	148,717,995 (GRCm39)	nonsense	probably null
R0032:Ipo8	UTSW	6	148,712,209 (GRCm39)	missense	probably damaging	0.99
R0032:Ipo8	UTSW	6	148,712,209 (GRCm39)	missense	probably damaging	0.99
R0088:Ipo8	UTSW	6	148,703,434 (GRCm39)	missense	probably benign	0.27
R0373:Ipo8	UTSW	6	148,676,540 (GRCm39)	missense	probably benign	0.00
R0539:Ipo8	UTSW	6	148,719,606 (GRCm39)	missense	probably benign	0.00
R0565:Ipo8	UTSW	6	148,688,221 (GRCm39)	missense	probably damaging	1.00
R0660:Ipo8	UTSW	6	148,701,711 (GRCm39)	missense	probably benign	0.02
R0664:Ipo8	UTSW	6	148,701,711 (GRCm39)	missense	probably benign	0.02
R0791:Ipo8	UTSW	6	148,723,225 (GRCm39)	missense	possibly damaging	0.94
R0989:Ipo8	UTSW	6	148,698,180 (GRCm39)	missense	probably benign	0.38
R1416:Ipo8	UTSW	6	148,690,591 (GRCm39)	missense	probably benign
R1417:Ipo8	UTSW	6	148,719,550 (GRCm39)	missense	probably benign	0.02
R1590:Ipo8	UTSW	6	148,712,163 (GRCm39)	splice site	probably null
R1703:Ipo8	UTSW	6	148,691,390 (GRCm39)	missense	probably benign	0.00
R1709:Ipo8	UTSW	6	148,684,226 (GRCm39)	missense	probably benign
R2079:Ipo8	UTSW	6	148,690,660 (GRCm39)	missense	probably damaging	1.00
R2338:Ipo8	UTSW	6	148,691,321 (GRCm39)	missense	probably benign	0.00
R2359:Ipo8	UTSW	6	148,717,975 (GRCm39)	splice site	probably benign
R2696:Ipo8	UTSW	6	148,698,239 (GRCm39)	missense	probably benign	0.01
R3407:Ipo8	UTSW	6	148,723,207 (GRCm39)	missense	probably benign	0.03
R3408:Ipo8	UTSW	6	148,723,207 (GRCm39)	missense	probably benign	0.03
R3709:Ipo8	UTSW	6	148,707,842 (GRCm39)	splice site	probably null
R3710:Ipo8	UTSW	6	148,707,842 (GRCm39)	splice site	probably null
R3945:Ipo8	UTSW	6	148,719,615 (GRCm39)	missense	probably damaging	1.00
R4326:Ipo8	UTSW	6	148,701,662 (GRCm39)	unclassified	probably benign
R4329:Ipo8	UTSW	6	148,701,662 (GRCm39)	unclassified	probably benign
R6105:Ipo8	UTSW	6	148,700,168 (GRCm39)	missense	probably damaging	1.00
R6148:Ipo8	UTSW	6	148,701,278 (GRCm39)	missense	probably damaging	1.00
R6359:Ipo8	UTSW	6	148,678,748 (GRCm39)	missense	probably benign	0.01
R6377:Ipo8	UTSW	6	148,717,995 (GRCm39)	nonsense	probably null
R6724:Ipo8	UTSW	6	148,711,473 (GRCm39)	splice site	probably null
R7283:Ipo8	UTSW	6	148,725,979 (GRCm39)	missense	possibly damaging	0.86
R7436:Ipo8	UTSW	6	148,691,303 (GRCm39)	missense	probably benign	0.13
R7445:Ipo8	UTSW	6	148,691,315 (GRCm39)	missense	probably benign	0.09
R8044:Ipo8	UTSW	6	148,711,421 (GRCm39)	missense	probably damaging	1.00
R8209:Ipo8	UTSW	6	148,698,176 (GRCm39)	missense	possibly damaging	0.93
R8943:Ipo8	UTSW	6	148,676,547 (GRCm39)	missense	probably benign	0.00
R9067:Ipo8	UTSW	6	148,678,730 (GRCm39)	missense	probably damaging	1.00
R9129:Ipo8	UTSW	6	148,700,125 (GRCm39)	missense	probably benign	0.05
R9297:Ipo8	UTSW	6	148,703,076 (GRCm39)	missense	possibly damaging	0.63
R9419:Ipo8	UTSW	6	148,686,064 (GRCm39)	missense	probably benign	0.15
Z1177:Ipo8	UTSW	6	148,698,210 (GRCm39)	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