Mutagenetix > Incidental Mutations

Incidental Mutation 'R7871:Ipo11'

608131

Institutional Source

Beutler Lab

Gene Symbol

Ipo11

Ensembl Gene

ENSMUSG00000042590

Gene Name

importin 11

Synonyms

Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106794439-106936958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106892468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 326 (M326V)

Ref Sequence

ENSEMBL: ENSMUSP00000079667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080856] [ENSMUST00000186033]

AlphaFold

Q8K2V6

Predicted Effect

probably benign
Transcript: ENSMUST00000080856
AA Change: M326V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: M326V

Domain	Start	End	E-Value	Type
IBN_N	28	100	7.71e-12	SMART
low complexity region	375	382	N/A	INTRINSIC
low complexity region	563	570	N/A	INTRINSIC
low complexity region	845	856	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186033
AA Change: M326V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: M326V

Domain	Start	End	E-Value	Type
IBN_N	28	100	7.71e-12	SMART
low complexity region	375	382	N/A	INTRINSIC
low complexity region	563	570	N/A	INTRINSIC
low complexity region	854	865	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,183,226	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,471,038		probably null	Het
Arpin	A	T	7: 79,927,715	W195R	probably damaging	Het
Asap1	A	G	15: 64,092,076	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,524,224	T1764A	not run	Het
Bmp7	C	A	2: 172,939,991	A27S	probably benign	Het
Ccnh	T	A	13: 85,211,872	Y297*	probably null	Het
Ccno	C	A	13: 112,988,113	D72E	probably benign	Het
Cd70	T	G	17: 57,148,770	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,687,400		probably null	Het
Chst4	A	G	8: 110,030,913	F106S	probably damaging	Het
Cntnap3	A	C	13: 64,903,773	L23R	probably benign	Het
Crybg2	T	A	4: 134,087,599	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,935,671		probably null	Het
Cyfip2	T	C	11: 46,242,350	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 71,988,643	P498S	possibly damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dnah3	T	A	7: 119,967,552	I97F		Het
Entpd3	A	G	9: 120,560,586	R313G	possibly damaging	Het
Erg28	G	A	12: 85,819,479	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,225,384	H518R	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Galntl6	T	C	8: 57,837,188	E457G	probably damaging	Het
Glt8d1	A	T	14: 31,010,339	H192L	probably damaging	Het
Gm15446	T	A	5: 109,943,299	C472*	probably null	Het
Gm28363	A	T	1: 117,697,498	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gstp3	T	A	19: 4,058,746	K45*	probably null	Het
Hsd17b13	A	G	5: 103,965,815	F258L	possibly damaging	Het
Htt	T	C	5: 34,864,649	S1646P	probably benign	Het
Itpr3	T	A	17: 27,117,179	I2293N	probably damaging	Het
Klk8	A	G	7: 43,799,326		probably null	Het
Kntc1	T	A	5: 123,784,227	L963H	probably damaging	Het
Lyst	T	A	13: 13,636,052	L769*	probably null	Het
Map3k13	A	G	16: 21,921,596	S558G	probably benign	Het
Mbd1	G	A	18: 74,274,057		probably null	Het
Mep1a	T	C	17: 43,479,235	N408D	probably benign	Het
Mtrf1	A	G	14: 79,406,938	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935	S1603L	unknown	Het
Myo1b	A	C	1: 51,779,580	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,807,103	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,798,496	K618*	probably null	Het
Ncstn	T	C	1: 172,075,456	D87G	probably benign	Het
Neurl4	T	C	11: 69,903,186	V156A	probably benign	Het
Nfasc	C	A	1: 132,600,013	G885V	not run	Het
Nox4	A	T	7: 87,314,127	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,623,251	T449A	probably benign	Het
Olfr799	A	G	10: 129,647,412	I95V	probably benign	Het
Pik3r4	T	C	9: 105,663,117	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 95,001,909	I645T	probably damaging	Het
Rras2	G	A	7: 114,117,548		probably benign	Het
Rtel1	T	C	2: 181,321,029	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,273,153	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,559,085	H280R	not run	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Skor1	T	C	9: 63,146,501	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,263,355	N106I	possibly damaging	Het
Slc44a4	T	A	17: 34,923,852		probably null	Het
Sppl2c	A	G	11: 104,188,516		probably null	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stx5a	T	A	19: 8,755,118	W384R	unknown	Het
Topaz1	A	G	9: 122,780,700	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,446,238	M1157L	probably benign	Het
Ttn	T	C	2: 76,717,215	T32204A	probably benign	Het
Ttn	T	C	2: 76,748,145	T24135A	probably damaging	Het
Ttn	T	C	2: 76,965,137	E632G	unknown	Het
Vmn2r109	T	C	17: 20,540,520	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,623,661	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,181,065	D271G	probably damaging	Het
Zfp629	A	G	7: 127,611,995	F214S	probably damaging	Het
Zfp709	A	G	8: 71,889,464	I246V	probably benign	Het

Other mutations in Ipo11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Ipo11	APN	13	106897260	missense	probably damaging	1.00
IGL00900:Ipo11	APN	13	106847444	missense	possibly damaging	0.81
IGL00971:Ipo11	APN	13	106856769	missense	probably damaging	1.00
IGL01023:Ipo11	APN	13	106897259	missense	probably benign	0.44
IGL01331:Ipo11	APN	13	106795746	missense	possibly damaging	0.92
IGL01608:Ipo11	APN	13	106834494	intron	probably benign
IGL02021:Ipo11	APN	13	106857237	missense	probably damaging	1.00
IGL02620:Ipo11	APN	13	106876281	critical splice acceptor site	probably null
IGL02651:Ipo11	APN	13	106875606	missense	probably damaging	1.00
IGL02699:Ipo11	APN	13	106889397	missense	possibly damaging	0.94
IGL02928:Ipo11	APN	13	106889355	splice site	probably benign
R0017:Ipo11	UTSW	13	106886730	missense	probably benign	0.00
R0017:Ipo11	UTSW	13	106886730	missense	probably benign	0.00
R0032:Ipo11	UTSW	13	106834463	intron	probably benign
R0164:Ipo11	UTSW	13	106910194	splice site	probably benign
R0333:Ipo11	UTSW	13	106870763	missense	probably benign	0.00
R0499:Ipo11	UTSW	13	106925087	missense	probably benign	0.00
R0555:Ipo11	UTSW	13	106892461	missense	probably damaging	1.00
R0718:Ipo11	UTSW	13	106919611	missense	possibly damaging	0.91
R0899:Ipo11	UTSW	13	106900816	nonsense	probably null
R1590:Ipo11	UTSW	13	106886717	missense	probably damaging	1.00
R1700:Ipo11	UTSW	13	106795662	missense	probably benign
R1851:Ipo11	UTSW	13	106812257	missense	possibly damaging	0.73
R1852:Ipo11	UTSW	13	106812257	missense	possibly damaging	0.73
R1853:Ipo11	UTSW	13	106860887	missense	probably benign	0.19
R2012:Ipo11	UTSW	13	106919622	missense	probably benign	0.01
R2168:Ipo11	UTSW	13	106879610	splice site	probably null
R2183:Ipo11	UTSW	13	106925087	missense	probably benign	0.00
R4254:Ipo11	UTSW	13	106892509	missense	probably benign	0.00
R4607:Ipo11	UTSW	13	106900811	missense	probably damaging	0.98
R4610:Ipo11	UTSW	13	106879737	missense	probably benign	0.06
R4654:Ipo11	UTSW	13	106834184	intron	probably benign
R4792:Ipo11	UTSW	13	106834160	intron	probably benign
R4990:Ipo11	UTSW	13	106860887	missense	probably benign	0.19
R5309:Ipo11	UTSW	13	106833973	intron	probably benign
R5580:Ipo11	UTSW	13	106900747	missense	probably benign
R5822:Ipo11	UTSW	13	106848418	unclassified	probably benign
R6459:Ipo11	UTSW	13	106865769	splice site	probably null
R6597:Ipo11	UTSW	13	106865863	critical splice donor site	probably null
R6803:Ipo11	UTSW	13	106857258	missense	probably benign
R6882:Ipo11	UTSW	13	106900682	splice site	probably null
R7071:Ipo11	UTSW	13	106925096	missense	probably damaging	1.00
R7202:Ipo11	UTSW	13	106875570	missense	probably damaging	1.00
R7214:Ipo11	UTSW	13	106895857	missense	probably null
R7221:Ipo11	UTSW	13	106892557	missense	probably damaging	1.00
R7392:Ipo11	UTSW	13	106891691	nonsense	probably null
R8189:Ipo11	UTSW	13	106925096	missense	probably damaging	1.00
R8426:Ipo11	UTSW	13	106842170	missense	possibly damaging	0.92
R8951:Ipo11	UTSW	13	106842182	missense	possibly damaging	0.80
R8981:Ipo11	UTSW	13	106925125	missense	probably benign	0.18
R9272:Ipo11	UTSW	13	106910205	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGCCCTTTAAAAGCCAGTATTCAC -3'
(R):5'- GTCCCAGGAAGTTTACATCTGG -3'

Sequencing Primer
(F):5'- AGCCAGTATTCACACATTAAACTG -3'
(R):5'- CCCAGGAAGTTTACATCTGGTTAAAC -3'

Posted On

2019-12-20