Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Ipo13'

593141

Institutional Source

Beutler Lab

Gene Symbol

Ipo13

Ensembl Gene

ENSMUSG00000033365

Gene Name

importin 13

Synonyms

Kap13

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117894486-117914999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117911891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 235 (P235S)

Ref Sequence

ENSEMBL: ENSMUSP00000035989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036156]

AlphaFold

Q8K0C1

Predicted Effect

probably benign
Transcript: ENSMUST00000036156
AA Change: P235S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: P235S

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
IBN_N	45	111	2.05e-7	SMART
Pfam:Xpo1	116	263	4.8e-29	PFAM
low complexity region	668	692	N/A	INTRINSIC
low complexity region	767	779	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion die prior to genotyping age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Ipo13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ipo13	APN	4	117903405	missense	probably benign	0.10
IGL00800:Ipo13	APN	4	117912308	missense	probably benign	0.31
IGL00971:Ipo13	APN	4	117914367	missense	possibly damaging	0.83
IGL01552:Ipo13	APN	4	117900964	missense	probably benign	0.16
IGL01957:Ipo13	APN	4	117903881	missense	probably damaging	0.99
IGL02262:Ipo13	APN	4	117903813	missense	probably damaging	1.00
R0109:Ipo13	UTSW	4	117905016	missense	possibly damaging	0.92
R0142:Ipo13	UTSW	4	117905569	missense	probably damaging	1.00
R0771:Ipo13	UTSW	4	117894646	missense	possibly damaging	0.78
R1248:Ipo13	UTSW	4	117901031	missense	probably damaging	1.00
R1381:Ipo13	UTSW	4	117904395	missense	probably damaging	1.00
R1497:Ipo13	UTSW	4	117904659	missense	probably benign	0.04
R1614:Ipo13	UTSW	4	117904618	missense	probably benign	0.00
R1711:Ipo13	UTSW	4	117904522	missense	probably benign	0.38
R2037:Ipo13	UTSW	4	117904661	nonsense	probably null
R2200:Ipo13	UTSW	4	117904903	critical splice donor site	probably null
R3698:Ipo13	UTSW	4	117900693	missense	probably damaging	1.00
R3949:Ipo13	UTSW	4	117901042	missense	probably benign	0.10
R4687:Ipo13	UTSW	4	117901576	missense	probably benign	0.06
R4894:Ipo13	UTSW	4	117903441	missense	probably damaging	0.99
R4894:Ipo13	UTSW	4	117904490	missense	possibly damaging	0.84
R4956:Ipo13	UTSW	4	117901571	missense	probably benign	0.00
R5679:Ipo13	UTSW	4	117894832	missense	probably damaging	1.00
R5879:Ipo13	UTSW	4	117903203	missense	possibly damaging	0.67
R5921:Ipo13	UTSW	4	117912089	missense	probably benign	0.14
R6250:Ipo13	UTSW	4	117912154	missense	possibly damaging	0.93
R6875:Ipo13	UTSW	4	117904911	missense	possibly damaging	0.90
R7178:Ipo13	UTSW	4	117903884	missense	possibly damaging	0.83
R7412:Ipo13	UTSW	4	117894871	missense	probably benign
R7774:Ipo13	UTSW	4	117914297	missense	probably benign	0.11
R8390:Ipo13	UTSW	4	117912337	missense	probably damaging	0.99
R8489:Ipo13	UTSW	4	117901022	missense	probably damaging	0.98
R8525:Ipo13	UTSW	4	117904929	missense	probably damaging	0.99
R9039:Ipo13	UTSW	4	117900988	missense	probably damaging	0.98
R9229:Ipo13	UTSW	4	117901604	missense	probably damaging	0.96
R9319:Ipo13	UTSW	4	117912388	missense	probably benign	0.00
R9760:Ipo13	UTSW	4	117905581	missense	probably benign	0.05
Z1088:Ipo13	UTSW	4	117904680	missense	probably benign	0.14
Z1176:Ipo13	UTSW	4	117904630	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGACGCGTATGACAGACACC -3'
(R):5'- AGTTGCTGACAGTACTGCCC -3'

Sequencing Primer
(F):5'- GTATGACAGACACCCCATTGATG -3'
(R):5'- TACTGCCCGAGGAGTTTCAGAC -3'

Posted On

2019-11-12