Mutagenetix > Incidental Mutation

Incidental Mutation 'R0710:Tnpo3'

62694

Institutional Source

Beutler Lab

Gene Symbol

Tnpo3

Ensembl Gene

ENSMUSG00000012535

Gene Name

transportin 3

Synonyms

D6Ertd313e, 5730544L10Rik, C430013M08Rik

MMRRC Submission

038893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0710 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

29540826-29609886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29586074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000110906 (fasta)

Gene Model

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

AlphaFold

Q6P2B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012679
AA Change: D172G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: D172G

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

possibly damaging
Transcript: ENSMUST00000115251
AA Change: D172G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: D172G

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: ENSMUST00000166844

SMART Domains

Protein: ENSMUSP00000131699
Gene: ENSMUSG00000012535

Domain	Start	End	E-Value	Type
PDB:4C0P\|D	1	55	1e-22	PDB

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

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Celsr2	A	G	3: 108,320,028 (GRCm39)	V928A	probably benign	Het
Farp1	C	T	14: 121,474,555 (GRCm39)	T256M	probably damaging	Het
Fbxl3	G	T	14: 103,326,751 (GRCm39)	H162Q	probably damaging	Het
Glra3	C	T	8: 56,578,399 (GRCm39)		probably benign	Het
Gpatch8	A	G	11: 102,372,759 (GRCm39)	S260P	unknown	Het
Hectd4	G	A	5: 121,474,691 (GRCm39)	V2771I	probably benign	Het
Hgf	C	A	5: 16,771,761 (GRCm39)	C129*	probably null	Het
Hmg20a	G	A	9: 56,381,954 (GRCm39)	D77N	possibly damaging	Het
Iqch	A	T	9: 63,432,418 (GRCm39)	S287T	probably benign	Het
Kcnj11	T	C	7: 45,748,549 (GRCm39)	Y258C	probably benign	Het
Kif1c	A	G	11: 70,617,323 (GRCm39)	T874A	probably benign	Het
Mlc1	G	T	15: 88,862,067 (GRCm39)	Q50K	possibly damaging	Het
Mtor	T	C	4: 148,548,848 (GRCm39)	S544P	possibly damaging	Het
Mypop	A	T	7: 18,734,485 (GRCm39)		probably null	Het
Poli	A	T	18: 70,655,961 (GRCm39)		probably null	Het
Rasa3	C	A	8: 13,633,830 (GRCm39)	V478L	probably damaging	Het
Scn3a	A	T	2: 65,299,390 (GRCm39)	M1372K	probably damaging	Het
Sinhcaf	A	G	6: 148,834,498 (GRCm39)		probably null	Het
Sis	T	C	3: 72,859,864 (GRCm39)	Q297R	probably damaging	Het
Tulp2	T	A	7: 45,170,232 (GRCm39)	V301D	possibly damaging	Het
Ubr2	G	A	17: 47,249,607 (GRCm39)	R1582W	probably damaging	Het
Ubr3	T	C	2: 69,783,181 (GRCm39)	S706P	probably damaging	Het
Vmn1r171	C	A	7: 23,332,426 (GRCm39)	S205Y	probably damaging	Het
Wnk4	G	A	11: 101,164,932 (GRCm39)	A754T	probably benign	Het
Zfp282	C	T	6: 47,857,318 (GRCm39)	R184W	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAAGAGCCAACAGCTTTAAATAGCAT -3'
(R):5'- GCTCTCAGTGACTCATCATCAATCCTTC -3'

Sequencing Primer
(F):5'- catgcctttaatctcagcactc -3'
(R):5'- GTGACTCATCATCAATCCTTCTTTTG -3'

Posted On

2013-07-30