Mutagenetix > Incidental Mutation

Incidental Mutation 'R0660:Ipo8'

208432

Institutional Source

Beutler Lab

Gene Symbol

Ipo8

Ensembl Gene

ENSMUSG00000040029

Gene Name

importin 8

Synonyms

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

MMRRC Submission

038845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0660 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

148672181-148732965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148701711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 466 (L466I)

Ref Sequence

ENSEMBL: ENSMUSP00000046759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048418] [ENSMUST00000145960] [ENSMUST00000204936]

AlphaFold

Q7TMY7

Predicted Effect

probably benign
Transcript: ENSMUST00000048418
AA Change: L466I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: L466I

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: ENSMUST00000144357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145743

Predicted Effect

probably benign
Transcript: ENSMUST00000145960

SMART Domains

Protein: ENSMUSP00000117365
Gene: ENSMUSG00000040029

Domain	Start	End	E-Value	Type
IBN_N	22	102	1.59e-13	SMART
low complexity region	176	190	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204936

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (43/43)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Abtb3	G	A	10: 85,224,234 (GRCm39)	A348T	possibly damaging	Het
Actr3	T	A	1: 125,336,304 (GRCm39)	I129L	probably benign	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
Aspm	T	A	1: 139,385,502 (GRCm39)	M382K	probably benign	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Cenpp	C	T	13: 49,618,173 (GRCm39)	R244Q	probably benign	Het
Dock2	A	G	11: 34,198,621 (GRCm39)	S1444P	probably damaging	Het
Fmo4	T	C	1: 162,637,417 (GRCm39)	N25S	probably benign	Het
Or5p6	T	C	7: 107,630,822 (GRCm39)	T243A	probably damaging	Het
Pnpla6	T	C	8: 3,572,269 (GRCm39)		probably benign	Het
Prkcb	T	C	7: 122,024,182 (GRCm39)	V69A	possibly damaging	Het
Sars1	G	A	3: 108,338,789 (GRCm39)	L247F	probably damaging	Het
Slco1a4	T	C	6: 141,758,467 (GRCm39)	I515V	probably benign	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Zkscan3	A	T	13: 21,572,630 (GRCm39)	I167N	probably 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
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
R8812:Ipo8	UTSW	6	148,676,575 (GRCm39)	missense	possibly damaging	0.64
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'- GACAGCACTCTGTGACAGTGTTCC -3'
(R):5'- TGTCATCGTGAAACTGTAGCTCTGTAAG -3'

Sequencing Primer
(F):5'- CTGTGACAGTGTTCCACATGAAAAG -3'
(R):5'- GATCTAAGATGCGATTTCTGACTTG -3'

Posted On

2014-06-26