Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Tnpo3'

488395

Institutional Source

Beutler Lab

Gene Symbol

Tnpo3

Ensembl Gene

ENSMUSG00000012535

Gene Name

transportin 3

Synonyms

D6Ertd313e, 5730544L10Rik, C430013M08Rik

MMRRC Submission

044284-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29540827-29609887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29555268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 772 (V772A)

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: V772A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: V772A

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: V772A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: V772A

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

Predicted Effect

unknown
Transcript: ENSMUST00000170647
AA Change: V89A

SMART Domains

Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: V89A

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	2	187	1e-5	SMART
PDB:4C0P\|D	2	247	1e-156	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171865

Meta Mutation Damage Score

0.1159

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349		probably null	Het
Ccdc51	C	T	9: 109,089,415	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696	S481*	probably null	Het
Styk1	C	T	6: 131,311,016	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835		probably null	Het
Topaz1	T	C	9: 122,797,756	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794	S187T	possibly 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
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
R8147:Tnpo3	UTSW	6	29589214	missense	probably benign	0.01
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
R8798:Tnpo3	UTSW	6	29572621	missense	probably benign
R8841:Tnpo3	UTSW	6	29589183	missense	probably damaging	1.00
R9345:Tnpo3	UTSW	6	29558852	missense	probably benign
Z1088:Tnpo3	UTSW	6	29565843	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCCGATCCCTTATAGGTC -3'
(R):5'- CGTTTTGTTGCCCCAGTATG -3'

Sequencing Primer
(F):5'- CGATCCCTTATAGGTCAACTAAAAC -3'
(R):5'- GTTTTCAGAAGGGTCCAATGAC -3'

Posted On

2017-10-10