Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00753:Tnpo3'

14536

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 #

IGL00753

Quality Score

Status

Chromosome

Chromosomal Location

29540826-29609886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29565786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 523 (I523F)

Ref Sequence

ENSEMBL: ENSMUSP00000110906 (fasta)

Gene Model

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

AlphaFold

Q6P2B1

Predicted Effect

probably benign
Transcript: ENSMUST00000012679
AA Change: I523F

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: I523F

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 benign
Transcript: ENSMUST00000115251
AA Change: I523F

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: I523F

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: ENSMUST00000169302

Predicted Effect

probably benign
Transcript: ENSMUST00000170350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201797

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	C	A	11: 80,023,684 (GRCm39)	Q1596K	probably benign	Het
Bcl9l	C	A	9: 44,416,924 (GRCm39)	T254K	possibly damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Csmd3	A	G	15: 47,507,631 (GRCm39)	Y2961H	probably damaging	Het
Dop1b	A	G	16: 93,566,512 (GRCm39)	T980A	probably benign	Het
Gdpd3	C	A	7: 126,366,598 (GRCm39)	Y118*	probably null	Het
Ift140	T	A	17: 25,274,618 (GRCm39)	F763L	probably damaging	Het
Igfn1	G	T	1: 135,894,464 (GRCm39)	P2034H	probably damaging	Het
Msantd2	T	C	9: 37,434,845 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,715,977 (GRCm39)	S864P	probably damaging	Het
Plbd1	A	C	6: 136,611,468 (GRCm39)	Y270D	probably benign	Het
Plcl1	T	C	1: 55,735,897 (GRCm39)	S413P	probably damaging	Het
Scn2a	A	G	2: 65,514,207 (GRCm39)	N297S	possibly damaging	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Thsd7a	C	T	6: 12,327,528 (GRCm39)	C1448Y	probably damaging	Het
Vps13b	C	T	15: 35,372,177 (GRCm39)	S24L	probably damaging	Het
Wdr37	G	A	13: 8,911,210 (GRCm39)	R18C	probably damaging	Het
Zfyve16	T	A	13: 92,657,626 (GRCm39)	K762*	probably null	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het
Zswim5	T	C	4: 116,842,933 (GRCm39)	W893R	possibly damaging	Het

Other mutations in Tnpo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tnpo3	APN	6	29,578,460 (GRCm39)	critical splice donor site	probably null
IGL00662:Tnpo3	APN	6	29,565,845 (GRCm39)	nonsense	probably null
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

2012-12-06