Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Ipo13'

598750

Institutional Source

Beutler Lab

Gene Symbol

Ipo13

Ensembl Gene

ENSMUSG00000033365

Gene Name

importin 13

Synonyms

Imp13, Kap13

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117751683-117772196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117771494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 25 (N25K)

Ref Sequence

ENSEMBL: ENSMUSP00000035989 (fasta)

Gene Model

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

AlphaFold

Q8K0C1

Predicted Effect

probably benign
Transcript: ENSMUST00000036156
AA Change: N25K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: N25K

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

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,494,414 (GRCm39)	T809N	probably benign	Het
Adgb	C	A	10: 10,215,404 (GRCm39)	E1561*	probably null	Het
Adgra1	A	T	7: 139,427,628 (GRCm39)	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,688,103 (GRCm39)	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,754,161 (GRCm39)	K177E	unknown	Het
Ccdc122	T	C	14: 77,305,379 (GRCm39)	V11A	probably benign	Het
Clasp2	T	A	9: 113,677,804 (GRCm39)		probably null	Het
Col6a1	T	C	10: 76,545,710 (GRCm39)	T921A	unknown	Het
Cul3	A	C	1: 80,247,011 (GRCm39)	D697E	probably benign	Het
Defa34	G	A	8: 22,155,978 (GRCm39)	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,700,641 (GRCm39)	R63G	probably damaging	Het
Dnaaf11	T	G	15: 66,321,401 (GRCm39)	I247L	probably benign	Het
Dnah3	T	A	7: 119,550,975 (GRCm39)	K136*	probably null	Het
Exoc7	T	C	11: 116,186,142 (GRCm39)	D353G	possibly damaging	Het
Fbxw21	T	C	9: 108,972,908 (GRCm39)	Y342C	probably benign	Het
Fitm2	T	A	2: 163,311,986 (GRCm39)	I76F	probably damaging	Het
Fryl	A	T	5: 73,240,727 (GRCm39)	I1291N	probably benign	Het
Fzd2	A	T	11: 102,496,314 (GRCm39)	I253F	possibly damaging	Het
Gm5592	A	T	7: 40,939,283 (GRCm39)	Y855F	probably damaging	Het
H1f6	A	G	13: 23,880,183 (GRCm39)	K112R	possibly damaging	Het
H4c16	G	T	6: 136,781,281 (GRCm39)	P33T	possibly damaging	Het
Helz2	T	C	2: 180,875,784 (GRCm39)	Y1570C	probably benign	Het
Ints11	A	G	4: 155,970,140 (GRCm39)	T228A	probably benign	Het
Itga9	T	A	9: 118,700,968 (GRCm39)	I917N	probably damaging	Het
Krt39	T	C	11: 99,405,437 (GRCm39)		probably null	Het
Krtap13-1	C	T	16: 88,526,061 (GRCm39)	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,863 (GRCm39)	E107*	probably null	Het
Ly6a	A	T	15: 74,869,416 (GRCm39)	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,768,407 (GRCm39)	T275A	probably benign	Het
Mgat3	C	T	15: 80,095,743 (GRCm39)	T190M	probably damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mucl1	G	T	15: 103,783,950 (GRCm39)	N85K	possibly damaging	Het
Nifk	G	A	1: 118,255,391 (GRCm39)	E96K	possibly damaging	Het
Opn3	C	T	1: 175,490,471 (GRCm39)	V397M	probably damaging	Het
Or52ad1	T	C	7: 102,995,737 (GRCm39)	R133G	possibly damaging	Het
Or5ae1	T	A	7: 84,565,739 (GRCm39)	F251I	probably damaging	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Pcdha2	A	G	18: 37,074,579 (GRCm39)	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757 (GRCm39)	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,404,303 (GRCm39)	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,360,802 (GRCm39)	C195*	probably null	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pramel23	C	T	4: 143,423,676 (GRCm39)	S371N	possibly damaging	Het
Ptprq	T	C	10: 107,479,530 (GRCm39)	T1166A	probably damaging	Het
Ran	G	A	5: 129,099,874 (GRCm39)	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,318,309 (GRCm39)	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,430,101 (GRCm39)	E227D	probably benign	Het
Sec24b	C	A	3: 129,777,846 (GRCm39)	R1204L	possibly damaging	Het
Shroom3	T	C	5: 93,098,348 (GRCm39)	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,084,814 (GRCm39)	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,092,142 (GRCm39)	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,899,606 (GRCm39)	D658G	probably benign	Het
Tlr6	T	G	5: 65,110,728 (GRCm39)	E726D	probably damaging	Het
Tmem218	T	A	9: 37,133,864 (GRCm39)	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,098,795 (GRCm39)	Q82*	probably null	Het
Trpm7	A	G	2: 126,655,158 (GRCm39)	V1260A	probably benign	Het
Trpm8	A	T	1: 88,258,563 (GRCm39)	E282V	probably damaging	Het
Tuba8	T	C	6: 121,200,348 (GRCm39)	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,245,245 (GRCm39)		probably null	Het
Zfp174	G	A	16: 3,667,215 (GRCm39)	V135M	probably damaging	Het
Zfp418	G	A	7: 7,185,776 (GRCm39)	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,844,474 (GRCm39)	E44D	probably benign	Het
Zfp521	T	C	18: 13,978,838 (GRCm39)	D525G	probably benign	Het

Other mutations in Ipo13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ipo13	APN	4	117,760,602 (GRCm39)	missense	probably benign	0.10
IGL00800:Ipo13	APN	4	117,769,505 (GRCm39)	missense	probably benign	0.31
IGL00971:Ipo13	APN	4	117,771,564 (GRCm39)	missense	possibly damaging	0.83
IGL01552:Ipo13	APN	4	117,758,161 (GRCm39)	missense	probably benign	0.16
IGL01957:Ipo13	APN	4	117,761,078 (GRCm39)	missense	probably damaging	0.99
IGL02262:Ipo13	APN	4	117,761,010 (GRCm39)	missense	probably damaging	1.00
R0109:Ipo13	UTSW	4	117,762,213 (GRCm39)	missense	possibly damaging	0.92
R0142:Ipo13	UTSW	4	117,762,766 (GRCm39)	missense	probably damaging	1.00
R0771:Ipo13	UTSW	4	117,751,843 (GRCm39)	missense	possibly damaging	0.78
R1248:Ipo13	UTSW	4	117,758,228 (GRCm39)	missense	probably damaging	1.00
R1381:Ipo13	UTSW	4	117,761,592 (GRCm39)	missense	probably damaging	1.00
R1497:Ipo13	UTSW	4	117,761,856 (GRCm39)	missense	probably benign	0.04
R1614:Ipo13	UTSW	4	117,761,815 (GRCm39)	missense	probably benign	0.00
R1711:Ipo13	UTSW	4	117,761,719 (GRCm39)	missense	probably benign	0.38
R2037:Ipo13	UTSW	4	117,761,858 (GRCm39)	nonsense	probably null
R2200:Ipo13	UTSW	4	117,762,100 (GRCm39)	critical splice donor site	probably null
R3698:Ipo13	UTSW	4	117,757,890 (GRCm39)	missense	probably damaging	1.00
R3949:Ipo13	UTSW	4	117,758,239 (GRCm39)	missense	probably benign	0.10
R4687:Ipo13	UTSW	4	117,758,773 (GRCm39)	missense	probably benign	0.06
R4894:Ipo13	UTSW	4	117,761,687 (GRCm39)	missense	possibly damaging	0.84
R4894:Ipo13	UTSW	4	117,760,638 (GRCm39)	missense	probably damaging	0.99
R4956:Ipo13	UTSW	4	117,758,768 (GRCm39)	missense	probably benign	0.00
R5679:Ipo13	UTSW	4	117,752,029 (GRCm39)	missense	probably damaging	1.00
R5879:Ipo13	UTSW	4	117,760,400 (GRCm39)	missense	possibly damaging	0.67
R5921:Ipo13	UTSW	4	117,769,286 (GRCm39)	missense	probably benign	0.14
R6250:Ipo13	UTSW	4	117,769,351 (GRCm39)	missense	possibly damaging	0.93
R6875:Ipo13	UTSW	4	117,762,108 (GRCm39)	missense	possibly damaging	0.90
R7178:Ipo13	UTSW	4	117,761,081 (GRCm39)	missense	possibly damaging	0.83
R7412:Ipo13	UTSW	4	117,752,068 (GRCm39)	missense	probably benign
R7687:Ipo13	UTSW	4	117,769,088 (GRCm39)	missense	probably benign	0.01
R8390:Ipo13	UTSW	4	117,769,534 (GRCm39)	missense	probably damaging	0.99
R8489:Ipo13	UTSW	4	117,758,219 (GRCm39)	missense	probably damaging	0.98
R8525:Ipo13	UTSW	4	117,762,126 (GRCm39)	missense	probably damaging	0.99
R9039:Ipo13	UTSW	4	117,758,185 (GRCm39)	missense	probably damaging	0.98
R9229:Ipo13	UTSW	4	117,758,801 (GRCm39)	missense	probably damaging	0.96
R9319:Ipo13	UTSW	4	117,769,585 (GRCm39)	missense	probably benign	0.00
R9760:Ipo13	UTSW	4	117,762,778 (GRCm39)	missense	probably benign	0.05
Z1088:Ipo13	UTSW	4	117,761,877 (GRCm39)	missense	probably benign	0.14
Z1176:Ipo13	UTSW	4	117,761,827 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATTAGGCACTGCAACACTG -3'
(R):5'- AGAGCACATCTTTTGACCTCTG -3'

Sequencing Primer
(F):5'- AAATACCAGGTGCTCTGG -3'
(R):5'- CTCCAAACGAGGTGGGCAG -3'

Posted On

2019-11-26