Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Tnpo3'

5466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnpo3

Ensembl Gene

ENSMUSG00000012535

Gene Name

transportin 3

Synonyms

D6Ertd313e, 5730544L10Rik, C430013M08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

29540826-29609886 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 29578460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012679] [ENSMUST00000115251] [ENSMUST00000170350]

AlphaFold

Q6P2B1

Predicted Effect

probably null
Transcript: ENSMUST00000012679

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535

Domain	Start	End	E-Value	Type
Blast:IBN_N	30	96	6e-35	BLAST
Pfam:Xpo1	101	249	3.5e-30	PFAM
low complexity region	318	328	N/A	INTRINSIC
low complexity region	823	838	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115251

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535

Domain	Start	End	E-Value	Type
Blast:IBN_N	30	96	6e-35	BLAST
Pfam:Xpo1	101	249	3e-30	PFAM
low complexity region	318	328	N/A	INTRINSIC
low complexity region	829	844	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169302

Predicted Effect

probably benign
Transcript: ENSMUST00000170350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170634

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,022,982 (GRCm39)	I39M	probably benign	Het
Acoxl	G	A	2: 127,820,724 (GRCm39)	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,552,899 (GRCm39)	R76L	probably damaging	Het
Afg2a	A	G	3: 37,505,951 (GRCm39)	I677V	possibly damaging	Het
Ank	T	C	15: 27,544,437 (GRCm39)	M66T	possibly damaging	Het
C6	C	T	15: 4,789,449 (GRCm39)	A298V	possibly damaging	Het
Clip4	A	T	17: 72,156,937 (GRCm39)	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 99,978,479 (GRCm39)	I165T	probably damaging	Het
Dennd1b	G	A	1: 138,990,678 (GRCm39)	R214H	probably damaging	Het
Eri2	G	A	7: 119,386,964 (GRCm39)	T185I	probably benign	Het
Fbxo33	A	G	12: 59,249,456 (GRCm39)	V476A	probably damaging	Het
Fer1l4	G	A	2: 155,861,840 (GRCm39)	R1826*	probably null	Het
Fyb1	A	T	15: 6,610,258 (GRCm39)	K277I	probably damaging	Het
Gli3	C	A	13: 15,818,884 (GRCm39)	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,553,029 (GRCm39)	I2554V	probably benign	Het
Maml2	A	T	9: 13,532,900 (GRCm39)		probably benign	Het
Map4k4	T	C	1: 40,053,692 (GRCm39)	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,179,043 (GRCm39)	D125G	probably benign	Het
Nipbl	A	G	15: 8,396,157 (GRCm39)	S139P	probably damaging	Het
Obscn	A	G	11: 58,897,614 (GRCm39)	L6647P	unknown	Het
Ppara	C	A	15: 85,685,268 (GRCm39)	H406N	probably benign	Het
Psg27	T	A	7: 18,295,842 (GRCm39)	H201L	probably benign	Het
Qser1	A	T	2: 104,617,248 (GRCm39)	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,783,551 (GRCm39)		probably null	Het
Septin2	C	T	1: 93,426,864 (GRCm39)	H158Y	probably damaging	Het
Snx9	C	A	17: 5,942,172 (GRCm39)	Q100K	probably benign	Het
Thnsl2	G	A	6: 71,108,884 (GRCm39)	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,523,571 (GRCm39)	R125G	probably damaging	Het
Tmem62	T	G	2: 120,837,445 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,680,439 (GRCm39)	D889V	probably damaging	Het
Tubgcp6	C	A	15: 88,988,211 (GRCm39)	V913L	probably benign	Het
Uox	A	T	3: 146,333,565 (GRCm39)	M255L	probably benign	Het

Other mutations in Tnpo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Tnpo3	APN	6	29,565,845 (GRCm39)	nonsense	probably null
IGL00753:Tnpo3	APN	6	29,565,786 (GRCm39)	missense	probably benign	0.32
IGL00906:Tnpo3	APN	6	29,589,047 (GRCm39)	missense	probably damaging	0.99
IGL01311:Tnpo3	APN	6	29,586,077 (GRCm39)	missense	possibly damaging	0.53
IGL01934:Tnpo3	APN	6	29,575,019 (GRCm39)	missense	probably benign	0.14
IGL01959:Tnpo3	APN	6	29,589,019 (GRCm39)	splice site	probably benign
IGL01987:Tnpo3	APN	6	29,560,200 (GRCm39)	missense	probably benign	0.02
IGL02137:Tnpo3	APN	6	29,609,450 (GRCm39)	missense	probably damaging	1.00
IGL02645:Tnpo3	APN	6	29,562,899 (GRCm39)	nonsense	probably null
IGL03409:Tnpo3	APN	6	29,555,181 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Tnpo3	UTSW	6	29,555,221 (GRCm39)	missense	possibly damaging	0.60
R0012:Tnpo3	UTSW	6	29,589,176 (GRCm39)	missense	probably damaging	0.96
R0012:Tnpo3	UTSW	6	29,589,176 (GRCm39)	missense	probably damaging	0.96
R0119:Tnpo3	UTSW	6	29,568,921 (GRCm39)	missense	possibly damaging	0.91
R0143:Tnpo3	UTSW	6	29,565,651 (GRCm39)	splice site	probably benign
R0384:Tnpo3	UTSW	6	29,582,163 (GRCm39)	critical splice donor site	probably null
R0597:Tnpo3	UTSW	6	29,578,564 (GRCm39)	nonsense	probably null
R0710:Tnpo3	UTSW	6	29,586,074 (GRCm39)	missense	possibly damaging	0.84
R0883:Tnpo3	UTSW	6	29,554,992 (GRCm39)	splice site	probably benign
R1494:Tnpo3	UTSW	6	29,557,043 (GRCm39)	missense	probably damaging	1.00
R1529:Tnpo3	UTSW	6	29,560,220 (GRCm39)	missense	possibly damaging	0.70
R1663:Tnpo3	UTSW	6	29,565,758 (GRCm39)	missense	probably benign	0.04
R1816:Tnpo3	UTSW	6	29,557,016 (GRCm39)	missense	probably benign	0.31
R2077:Tnpo3	UTSW	6	29,586,143 (GRCm39)	missense	possibly damaging	0.94
R2113:Tnpo3	UTSW	6	29,551,871 (GRCm39)	missense	probably benign	0.07
R2146:Tnpo3	UTSW	6	29,589,035 (GRCm39)	missense	probably benign	0.18
R2377:Tnpo3	UTSW	6	29,579,618 (GRCm39)	missense	probably benign	0.19
R3765:Tnpo3	UTSW	6	29,579,688 (GRCm39)	missense	probably benign	0.00
R3766:Tnpo3	UTSW	6	29,579,688 (GRCm39)	missense	probably benign	0.00
R4125:Tnpo3	UTSW	6	29,560,091 (GRCm39)	missense	probably damaging	1.00
R4525:Tnpo3	UTSW	6	29,561,397 (GRCm39)	missense	probably benign	0.02
R4786:Tnpo3	UTSW	6	29,578,541 (GRCm39)	missense	probably benign	0.24
R4830:Tnpo3	UTSW	6	29,568,937 (GRCm39)	missense	probably benign	0.00
R4948:Tnpo3	UTSW	6	29,582,259 (GRCm39)	missense	probably benign	0.01
R5215:Tnpo3	UTSW	6	29,582,152 (GRCm39)	splice site	probably benign
R5325:Tnpo3	UTSW	6	29,602,012 (GRCm39)	intron	probably benign
R5512:Tnpo3	UTSW	6	29,575,045 (GRCm39)	missense	probably damaging	1.00
R5619:Tnpo3	UTSW	6	29,565,197 (GRCm39)	nonsense	probably null
R5689:Tnpo3	UTSW	6	29,571,063 (GRCm39)	missense	possibly damaging	0.67
R5855:Tnpo3	UTSW	6	29,589,032 (GRCm39)	missense	probably damaging	1.00
R6101:Tnpo3	UTSW	6	29,588,042 (GRCm39)	nonsense	probably null
R6105:Tnpo3	UTSW	6	29,588,042 (GRCm39)	nonsense	probably null
R6137:Tnpo3	UTSW	6	29,555,267 (GRCm39)	missense	probably benign	0.00
R6481:Tnpo3	UTSW	6	29,571,100 (GRCm39)	missense	possibly damaging	0.91
R6534:Tnpo3	UTSW	6	29,572,702 (GRCm39)	splice site	probably null
R6569:Tnpo3	UTSW	6	29,571,065 (GRCm39)	missense	possibly damaging	0.62
R6976:Tnpo3	UTSW	6	29,572,594 (GRCm39)	nonsense	probably null
R7006:Tnpo3	UTSW	6	29,589,162 (GRCm39)	missense	probably damaging	1.00
R7312:Tnpo3	UTSW	6	29,562,875 (GRCm39)	missense	possibly damaging	0.47
R7365:Tnpo3	UTSW	6	29,556,995 (GRCm39)	missense	probably damaging	1.00
R7686:Tnpo3	UTSW	6	29,562,899 (GRCm39)	nonsense	probably null
R7898:Tnpo3	UTSW	6	29,565,223 (GRCm39)	missense	probably benign	0.01
R7901:Tnpo3	UTSW	6	29,568,990 (GRCm39)	missense	possibly damaging	0.83
R8003:Tnpo3	UTSW	6	29,551,900 (GRCm39)	missense	probably benign	0.09
R8144:Tnpo3	UTSW	6	29,558,761 (GRCm39)	missense	probably benign
R8147:Tnpo3	UTSW	6	29,589,213 (GRCm39)	missense	probably benign	0.01
R8183:Tnpo3	UTSW	6	29,558,758 (GRCm39)	missense	probably damaging	0.97
R8297:Tnpo3	UTSW	6	29,582,302 (GRCm39)	missense	possibly damaging	0.91
R8329:Tnpo3	UTSW	6	29,558,832 (GRCm39)	nonsense	probably null
R8424:Tnpo3	UTSW	6	29,555,205 (GRCm39)	missense	probably benign	0.06
R8798:Tnpo3	UTSW	6	29,572,620 (GRCm39)	missense	probably benign
R8841:Tnpo3	UTSW	6	29,589,182 (GRCm39)	missense	probably damaging	1.00
R9345:Tnpo3	UTSW	6	29,558,851 (GRCm39)	missense	probably benign
R9652:Tnpo3	UTSW	6	29,560,173 (GRCm39)	nonsense	probably null
R9699:Tnpo3	UTSW	6	29,565,768 (GRCm39)	missense	probably benign	0.11
Z1088:Tnpo3	UTSW	6	29,565,842 (GRCm39)	missense	probably benign

Posted On

2012-04-20