Mutagenetix > Incidental Mutations

Incidental Mutation 'R8147:Tnpo3'

632850

Institutional Source

Beutler Lab

Gene Symbol

Tnpo3

Ensembl Gene

ENSMUSG00000012535

Gene Name

transportin 3

Synonyms

D6Ertd313e, 5730544L10Rik, C430013M08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29540827-29609887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29589214 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 46 (I46V)

Ref Sequence

ENSEMBL: ENSMUSP00000012679 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000012679
AA Change: I46V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: I46V

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: I46V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: I46V

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

probably benign
Transcript: ENSMUST00000170350

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,742,513	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,357,380	I287N	probably damaging	Het
Aox2	T	A	1: 58,300,662	N371K	probably benign	Het
Atr	T	A	9: 95,899,060	F1392L	probably damaging	Het
Bicra	G	A	7: 15,988,470	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,679,176	R912Q	probably damaging	Het
Cdhr1	T	C	14: 37,079,652	N778S	probably benign	Het
Col4a3bp	C	T	13: 96,543,228	P22L	probably benign	Het
Dgat2	C	T	7: 99,156,980	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,158,327	D937G	probably benign	Het
Dqx1	T	C	6: 83,060,241	V295A	probably benign	Het
Dsg3	A	G	18: 20,540,073	T934A	probably benign	Het
Fam81b	A	C	13: 76,235,021	V243G	probably damaging	Het
Gen1	A	T	12: 11,255,050		probably null	Het
Glrx3	G	A	7: 137,463,007	S275N	probably benign	Het
Igdcc4	A	T	9: 65,123,971	Q397L	probably benign	Het
Ints6	C	T	14: 62,713,737	G281D	probably damaging	Het
Kalrn	A	T	16: 34,055,044	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,462,405	D567G	probably damaging	Het
Macf1	A	G	4: 123,491,698	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,143,979	R434C	probably damaging	Het
Mia3	A	T	1: 183,328,207	F358I		Het
Ncapd3	C	T	9: 27,030,718		probably benign	Het
Nfkb2	A	G	19: 46,307,434	R156G	possibly damaging	Het
Nus1	T	C	10: 52,429,320		probably null	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr1183	T	C	2: 88,462,083	F267L	possibly damaging	Het
Olfr1252	T	A	2: 89,721,842	I90F	probably damaging	Het
Olfr1384	C	T	11: 49,514,223	T195I	probably benign	Het
Pafah1b2	A	G	9: 45,983,849		probably null	Het
Pold2	T	C	11: 5,876,842	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,873,942	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,511,581	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,317,378	V293A	probably damaging	Het
Rpl18a	G	T	8: 70,895,425	T174N	probably damaging	Het
Senp5	A	T	16: 31,989,310	H375Q	probably benign	Het
Setbp1	A	T	18: 78,856,800	F1217L	probably damaging	Het
Skint4	A	G	4: 112,136,021	I314V	probably benign	Het
Slc28a2	A	G	2: 122,458,201	D596G	probably benign	Het
Stat5b	A	G	11: 100,797,781	I285T	probably benign	Het
Sycp3	T	C	10: 88,462,605		probably null	Het
Sympk	T	C	7: 19,036,793	F270L	probably damaging	Het
Taar5	T	C	10: 23,970,851	V49A	probably damaging	Het
Tbx18	C	T	9: 87,724,358	V245I	probably damaging	Het
Tet1	A	G	10: 62,878,807	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,529,910	F333L	probably damaging	Het
Traf5	G	T	1: 192,062,684	N112K	probably damaging	Het
Trim12c	A	T	7: 104,341,958	M263K	unknown	Het
Trim55	A	G	3: 19,672,847	I359M	probably benign	Het
Utp20	A	T	10: 88,758,444	W2140R	probably benign	Het
Vgll3	T	C	16: 65,828,078	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,956,019	G474*	probably null	Het
Vps18	G	A	2: 119,292,756	A98T	probably benign	Het
Zfand4	T	A	6: 116,314,208	S387T	probably damaging	Het
Zfp808	A	G	13: 62,173,120	Y721C	probably damaging	Het

Other mutations in Tnpo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tnpo3	APN	6	29578461	critical splice donor site	probably null
IGL00662:Tnpo3	APN	6	29565846	nonsense	probably null
IGL00753:Tnpo3	APN	6	29565787	missense	probably benign	0.32
IGL00906:Tnpo3	APN	6	29589048	missense	probably damaging	0.99
IGL01311:Tnpo3	APN	6	29586078	missense	possibly damaging	0.53
IGL01934:Tnpo3	APN	6	29575020	missense	probably benign	0.14
IGL01959:Tnpo3	APN	6	29589020	splice site	probably benign
IGL01987:Tnpo3	APN	6	29560201	missense	probably benign	0.02
IGL02137:Tnpo3	APN	6	29609451	missense	probably damaging	1.00
IGL02645:Tnpo3	APN	6	29562900	nonsense	probably null
IGL03409:Tnpo3	APN	6	29555182	missense	probably damaging	1.00
PIT4520001:Tnpo3	UTSW	6	29555222	missense	possibly damaging	0.60
R0012:Tnpo3	UTSW	6	29589177	missense	probably damaging	0.96
R0012:Tnpo3	UTSW	6	29589177	missense	probably damaging	0.96
R0119:Tnpo3	UTSW	6	29568922	missense	possibly damaging	0.91
R0143:Tnpo3	UTSW	6	29565652	splice site	probably benign
R0384:Tnpo3	UTSW	6	29582164	critical splice donor site	probably null
R0597:Tnpo3	UTSW	6	29578565	nonsense	probably null
R0710:Tnpo3	UTSW	6	29586075	missense	possibly damaging	0.84
R0883:Tnpo3	UTSW	6	29554993	splice site	probably benign
R1494:Tnpo3	UTSW	6	29557044	missense	probably damaging	1.00
R1529:Tnpo3	UTSW	6	29560221	missense	possibly damaging	0.70
R1663:Tnpo3	UTSW	6	29565759	missense	probably benign	0.04
R1816:Tnpo3	UTSW	6	29557017	missense	probably benign	0.31
R2077:Tnpo3	UTSW	6	29586144	missense	possibly damaging	0.94
R2113:Tnpo3	UTSW	6	29551872	missense	probably benign	0.07
R2146:Tnpo3	UTSW	6	29589036	missense	probably benign	0.18
R2377:Tnpo3	UTSW	6	29579619	missense	probably benign	0.19
R3765:Tnpo3	UTSW	6	29579689	missense	probably benign	0.00
R3766:Tnpo3	UTSW	6	29579689	missense	probably benign	0.00
R4125:Tnpo3	UTSW	6	29560092	missense	probably damaging	1.00
R4525:Tnpo3	UTSW	6	29561398	missense	probably benign	0.02
R4786:Tnpo3	UTSW	6	29578542	missense	probably benign	0.24
R4830:Tnpo3	UTSW	6	29568938	missense	probably benign	0.00
R4948:Tnpo3	UTSW	6	29582260	missense	probably benign	0.01
R5215:Tnpo3	UTSW	6	29582153	splice site	probably benign
R5325:Tnpo3	UTSW	6	29602013	intron	probably benign
R5512:Tnpo3	UTSW	6	29575046	missense	probably damaging	1.00
R5619:Tnpo3	UTSW	6	29565198	nonsense	probably null
R5689:Tnpo3	UTSW	6	29571064	missense	possibly damaging	0.67
R5855:Tnpo3	UTSW	6	29589033	missense	probably damaging	1.00
R6101:Tnpo3	UTSW	6	29588043	nonsense	probably null
R6105:Tnpo3	UTSW	6	29588043	nonsense	probably null
R6137:Tnpo3	UTSW	6	29555268	missense	probably benign	0.00
R6481:Tnpo3	UTSW	6	29571101	missense	possibly damaging	0.91
R6534:Tnpo3	UTSW	6	29572703	splice site	probably null
R6569:Tnpo3	UTSW	6	29571066	missense	possibly damaging	0.62
R6976:Tnpo3	UTSW	6	29572595	nonsense	probably null
R7006:Tnpo3	UTSW	6	29589163	missense	probably damaging	1.00
R7312:Tnpo3	UTSW	6	29562876	missense	possibly damaging	0.47
R7365:Tnpo3	UTSW	6	29556996	missense	probably damaging	1.00
R7686:Tnpo3	UTSW	6	29562900	nonsense	probably null
R7898:Tnpo3	UTSW	6	29565224	missense	probably benign	0.01
R7901:Tnpo3	UTSW	6	29568991	missense	possibly damaging	0.83
R8003:Tnpo3	UTSW	6	29551901	missense	probably benign	0.09
R8144:Tnpo3	UTSW	6	29558762	missense	probably benign
R8183:Tnpo3	UTSW	6	29558759	missense	probably damaging	0.97
R8297:Tnpo3	UTSW	6	29582303	missense	possibly damaging	0.91
R8329:Tnpo3	UTSW	6	29558833	nonsense	probably null
R8424:Tnpo3	UTSW	6	29555206	missense	probably benign	0.06
Z1088:Tnpo3	UTSW	6	29565843	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATGTCCGTAATGAGTACAGGC -3'
(R):5'- GTCTTAGGGAATACTGTTGTTGAAC -3'

Sequencing Primer
(F):5'- GTCCGTAATGAGTACAGGCTTTACC -3'
(R):5'- CTGTTGTTGAACATTGAACAGACCC -3'

Posted On

2020-06-30