Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Ipo8'

565795

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148770683-148831467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148824481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 30 (Y30F)

Ref Sequence

ENSEMBL: ENSMUSP00000046759 (fasta)

Gene Model

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

AlphaFold

Q7TMY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048418
AA Change: Y30F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: Y30F

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

probably benign
Transcript: ENSMUST00000145960
AA Change: Y30F

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117365
Gene: ENSMUSG00000040029
AA Change: Y30F

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

0.3230

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
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'- CTCCTTCAGCAGCCATCAACTG -3'
(R):5'- AAGGAGTTCTAAGGCTACACAG -3'

Sequencing Primer
(F):5'- AAGGGTCATTCCTGGATCAATGC -3'
(R):5'- ATGGTGCTAGTAGCTGTTC -3'

Posted On

2019-06-26