Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Tnpo3'

571705

Institutional Source

Beutler Lab

Gene Symbol

Tnpo3

Ensembl Gene

ENSMUSG00000012535

Gene Name

transportin 3

Synonyms

D6Ertd313e, 5730544L10Rik, C430013M08Rik

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29540826-29609886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29556995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 752 (L752P)

Ref Sequence

ENSEMBL: ENSMUSP00000012679 (fasta)

Gene Model

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

AlphaFold

Q6P2B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000012679
AA Change: L752P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: L752P

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 damaging
Transcript: ENSMUST00000115251
AA Change: L752P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: L752P

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

SMART Domains

Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: L69P

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

Meta Mutation Damage Score

0.8365

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Abcc4	T	C	14: 118,865,066 (GRCm39)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,300,198 (GRCm39)	D700E	probably damaging	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,510,692 (GRCm39)	S639*	probably null	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Golga2	C	T	2: 32,193,013 (GRCm39)	Q444*	probably null	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		probably benign	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
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
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'- TGACACATTTCTAGCCCGCC -3'
(R):5'- GGCAAGGGTTCTCTTTTCCTAATC -3'

Sequencing Primer
(F):5'- AGCCCGCCTAAATACATTTTTATC -3'
(R):5'- ACTCATTACAGTCTTGTCATTGTG -3'

Posted On

2019-09-13