Mutagenetix > Incidental Mutation

Incidental Mutation 'R8274:Tpr'

656419

Institutional Source

Beutler Lab

Gene Symbol

Tpr

Ensembl Gene

ENSMUSG00000006005

Gene Name

translocated promoter region, nuclear basket protein

Synonyms

2610029M07Rik

MMRRC Submission

067697-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150268589-150325686 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 150299230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119161] [ENSMUST00000124973]

AlphaFold

F6ZDS4

Predicted Effect

probably benign
Transcript: ENSMUST00000119161

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
coiled coil region	49	370	N/A	INTRINSIC
coiled coil region	423	515	N/A	INTRINSIC
low complexity region	518	534	N/A	INTRINSIC
coiled coil region	539	604	N/A	INTRINSIC
low complexity region	690	703	N/A	INTRINSIC
low complexity region	782	795	N/A	INTRINSIC
low complexity region	811	826	N/A	INTRINSIC
low complexity region	1003	1019	N/A	INTRINSIC
Pfam:TPR_MLP1_2	1036	1167	9.1e-33	PFAM
coiled coil region	1215	1421	N/A	INTRINSIC
coiled coil region	1473	1629	N/A	INTRINSIC
internal_repeat_3	1630	1691	1.48e-5	PROSPERO
low complexity region	1695	1717	N/A	INTRINSIC
low complexity region	1761	1777	N/A	INTRINSIC
internal_repeat_5	1814	1827	5.58e-5	PROSPERO
internal_repeat_3	1819	1881	1.48e-5	PROSPERO
internal_repeat_4	1875	1895	5.58e-5	PROSPERO
internal_repeat_1	1893	1919	2.03e-6	PROSPERO
low complexity region	1920	1933	N/A	INTRINSIC
low complexity region	1942	1981	N/A	INTRINSIC
low complexity region	1989	2014	N/A	INTRINSIC
internal_repeat_4	2017	2036	5.58e-5	PROSPERO
low complexity region	2059	2078	N/A	INTRINSIC
internal_repeat_2	2084	2135	3.95e-6	PROSPERO
internal_repeat_5	2127	2140	5.58e-5	PROSPERO
internal_repeat_1	2154	2179	2.03e-6	PROSPERO
internal_repeat_2	2156	2212	3.95e-6	PROSPERO
low complexity region	2239	2251	N/A	INTRINSIC
low complexity region	2263	2277	N/A	INTRINSIC
low complexity region	2292	2314	N/A	INTRINSIC
low complexity region	2346	2357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124973

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	24	77	N/A	INTRINSIC
coiled coil region	123	444	N/A	INTRINSIC
coiled coil region	497	589	N/A	INTRINSIC
low complexity region	592	608	N/A	INTRINSIC
coiled coil region	613	678	N/A	INTRINSIC
low complexity region	764	777	N/A	INTRINSIC
low complexity region	856	869	N/A	INTRINSIC
low complexity region	885	900	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
Pfam:TPR_MLP1_2	1112	1240	5.1e-37	PFAM
coiled coil region	1289	1495	N/A	INTRINSIC
low complexity region	1682	1698	N/A	INTRINSIC
internal_repeat_5	1703	1750	8.04e-5	PROSPERO
internal_repeat_3	1704	1765	1.07e-5	PROSPERO
low complexity region	1769	1791	N/A	INTRINSIC
low complexity region	1835	1851	N/A	INTRINSIC
internal_repeat_5	1857	1900	8.04e-5	PROSPERO
internal_repeat_6	1887	1911	8.04e-5	PROSPERO
internal_repeat_3	1893	1955	1.07e-5	PROSPERO
internal_repeat_4	1949	1969	4.1e-5	PROSPERO
internal_repeat_1	1967	1993	1.42e-6	PROSPERO
low complexity region	1994	2007	N/A	INTRINSIC
low complexity region	2016	2055	N/A	INTRINSIC
low complexity region	2063	2088	N/A	INTRINSIC
internal_repeat_4	2091	2110	4.1e-5	PROSPERO
internal_repeat_6	2108	2132	8.04e-5	PROSPERO
low complexity region	2133	2152	N/A	INTRINSIC
internal_repeat_2	2158	2209	2.78e-6	PROSPERO
internal_repeat_1	2228	2253	1.42e-6	PROSPERO
internal_repeat_2	2230	2286	2.78e-6	PROSPERO
low complexity region	2313	2325	N/A	INTRINSIC
low complexity region	2337	2351	N/A	INTRINSIC
low complexity region	2366	2388	N/A	INTRINSIC
low complexity region	2420	2431	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(28) : Targeted, other(2) Gene trapped(26)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,964 (GRCm39)	T42A	possibly damaging	Het
Adamts6	T	C	13: 104,450,181 (GRCm39)	V294A	probably benign	Het
Ahr	A	C	12: 35,560,068 (GRCm39)	V195G	probably benign	Het
Ankrd17	A	T	5: 90,430,718 (GRCm39)	I1022N	probably benign	Het
Arsk	A	T	13: 76,220,303 (GRCm39)	C264S	probably damaging	Het
Astn2	A	G	4: 65,570,098 (GRCm39)		probably null	Het
Atf7ip	C	A	6: 136,537,988 (GRCm39)	T407K	probably benign	Het
Axl	A	G	7: 25,463,438 (GRCm39)	I613T	probably damaging	Het
Baz2a	T	C	10: 127,957,716 (GRCm39)	M1021T	probably benign	Het
Cacna2d2	T	C	9: 107,401,861 (GRCm39)	V765A	possibly damaging	Het
Chd7	T	C	4: 8,839,432 (GRCm39)	Y1323H	probably damaging	Het
Col7a1	G	T	9: 108,799,029 (GRCm39)	G1794V	probably damaging	Het
Csmd1	T	C	8: 15,960,453 (GRCm39)	M3321V	possibly damaging	Het
Dcp1b	T	C	6: 119,160,612 (GRCm39)	S65P	probably damaging	Het
Depdc7	A	G	2: 104,558,551 (GRCm39)	S157P	probably benign	Het
Dnah1	T	A	14: 31,017,531 (GRCm39)	H1500L	probably benign	Het
Erbb2	C	T	11: 98,324,722 (GRCm39)	A772V	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	A	9: 16,288,786 (GRCm39)	K246*	probably null	Het
Fbxl9	T	A	8: 106,042,166 (GRCm39)	I221F	probably benign	Het
Gbp4	T	C	5: 105,267,338 (GRCm39)	N527S	probably benign	Het
Gpr157	C	T	4: 150,172,500 (GRCm39)	T97M	probably damaging	Het
Gpt2	T	C	8: 86,242,853 (GRCm39)	L295P	probably benign	Het
Grm8	T	A	6: 27,761,335 (GRCm39)	K296N	probably benign	Het
Gss	T	A	2: 155,429,424 (GRCm39)	I23L	probably benign	Het
Hk3	A	G	13: 55,159,230 (GRCm39)	V442A	possibly damaging	Het
Hoxa3	C	A	6: 52,147,524 (GRCm39)	R243L	unknown	Het
Junb	T	A	8: 85,705,058 (GRCm39)	M1L	possibly damaging	Het
Kcnh6	T	C	11: 105,910,987 (GRCm39)	I514T	probably damaging	Het
Kif11	C	A	19: 37,391,994 (GRCm39)	T463N	probably damaging	Het
Lmf2	C	T	15: 89,236,866 (GRCm39)	G459S	probably damaging	Het
Lpl	A	G	8: 69,345,250 (GRCm39)	T85A	possibly damaging	Het
Myo9b	G	A	8: 71,812,480 (GRCm39)	A2084T	probably benign	Het
Oog4	T	A	4: 143,166,459 (GRCm39)		probably benign	Het
Or7g18	T	A	9: 18,786,795 (GRCm39)	H57Q	probably benign	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ptprk	G	T	10: 28,456,408 (GRCm39)	R1056L	probably damaging	Het
Rfx2	C	T	17: 57,111,348 (GRCm39)	A75T	probably benign	Het
Scn11a	T	C	9: 119,632,548 (GRCm39)	T441A	probably benign	Het
Siglec1	A	G	2: 130,925,830 (GRCm39)	V292A	probably benign	Het
Smok2a	G	A	17: 13,445,781 (GRCm39)	A453T	probably benign	Het
Tmcc3	T	C	10: 94,422,738 (GRCm39)	V427A	probably damaging	Het
Tmem208	T	G	8: 106,055,257 (GRCm39)	I106S	probably damaging	Het
Trav9-2	G	T	14: 53,828,810 (GRCm39)	R60L	probably benign	Het
Vcan	T	C	13: 89,853,089 (GRCm39)	K624E	probably benign	Het
Zfp318	A	T	17: 46,723,915 (GRCm39)	M1973L	probably benign	Het

Other mutations in Tpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Tpr	APN	1	150,299,447 (GRCm39)	splice site	probably benign
IGL00424:Tpr	APN	1	150,274,346 (GRCm39)	splice site	probably benign
IGL01095:Tpr	APN	1	150,285,891 (GRCm39)	missense	possibly damaging	0.95
IGL01347:Tpr	APN	1	150,302,738 (GRCm39)	missense	probably damaging	1.00
IGL01519:Tpr	APN	1	150,306,919 (GRCm39)	missense	probably benign	0.01
IGL01768:Tpr	APN	1	150,320,199 (GRCm39)	missense	possibly damaging	0.85
IGL01939:Tpr	APN	1	150,289,496 (GRCm39)	missense	possibly damaging	0.82
IGL01988:Tpr	APN	1	150,302,750 (GRCm39)	splice site	probably null
IGL02065:Tpr	APN	1	150,289,525 (GRCm39)	missense	probably benign	0.13
IGL02110:Tpr	APN	1	150,311,493 (GRCm39)	missense	probably damaging	0.97
IGL02311:Tpr	APN	1	150,274,404 (GRCm39)	missense	probably damaging	0.97
IGL02454:Tpr	APN	1	150,306,943 (GRCm39)	missense	probably benign	0.00
IGL02569:Tpr	APN	1	150,301,382 (GRCm39)	unclassified	probably benign
IGL03168:Tpr	APN	1	150,284,508 (GRCm39)	missense	probably benign	0.04
IGL03193:Tpr	APN	1	150,315,831 (GRCm39)	missense	possibly damaging	0.85
IGL03333:Tpr	APN	1	150,302,718 (GRCm39)	missense	probably benign	0.04
gridiron	UTSW	1	150,299,267 (GRCm39)	missense	probably damaging	1.00
Pouch	UTSW	1	150,309,523 (GRCm39)	missense	probably damaging	1.00
punt	UTSW	1	150,293,790 (GRCm39)	missense	probably benign	0.02
Turf	UTSW	1	150,317,996 (GRCm39)	critical splice donor site	probably null
F6893:Tpr	UTSW	1	150,269,313 (GRCm39)	missense	possibly damaging	0.84
PIT4305001:Tpr	UTSW	1	150,315,888 (GRCm39)	missense	possibly damaging	0.85
PIT4469001:Tpr	UTSW	1	150,279,707 (GRCm39)	missense	probably benign	0.41
R0085:Tpr	UTSW	1	150,293,164 (GRCm39)	missense	possibly damaging	0.95
R0101:Tpr	UTSW	1	150,285,053 (GRCm39)	splice site	probably benign
R0116:Tpr	UTSW	1	150,285,898 (GRCm39)	missense	probably damaging	0.98
R0136:Tpr	UTSW	1	150,306,346 (GRCm39)	missense	probably benign	0.01
R0207:Tpr	UTSW	1	150,293,178 (GRCm39)	missense	possibly damaging	0.74
R0219:Tpr	UTSW	1	150,319,009 (GRCm39)	splice site	probably null
R0380:Tpr	UTSW	1	150,288,698 (GRCm39)	missense	probably benign	0.27
R0403:Tpr	UTSW	1	150,283,165 (GRCm39)	splice site	probably benign
R0469:Tpr	UTSW	1	150,299,418 (GRCm39)	frame shift	probably null
R0480:Tpr	UTSW	1	150,303,992 (GRCm39)	missense	possibly damaging	0.83
R0514:Tpr	UTSW	1	150,278,024 (GRCm39)	missense	possibly damaging	0.55
R0563:Tpr	UTSW	1	150,284,609 (GRCm39)	missense	probably benign	0.13
R0631:Tpr	UTSW	1	150,298,282 (GRCm39)	missense	probably damaging	0.98
R0685:Tpr	UTSW	1	150,309,476 (GRCm39)	missense	possibly damaging	0.69
R0730:Tpr	UTSW	1	150,269,158 (GRCm39)	utr 5 prime	probably benign
R0739:Tpr	UTSW	1	150,283,248 (GRCm39)	missense	possibly damaging	0.94
R0780:Tpr	UTSW	1	150,307,092 (GRCm39)	missense	probably benign	0.00
R1018:Tpr	UTSW	1	150,317,934 (GRCm39)	missense	possibly damaging	0.53
R1084:Tpr	UTSW	1	150,317,912 (GRCm39)	missense	probably benign	0.18
R1532:Tpr	UTSW	1	150,293,751 (GRCm39)	missense	probably damaging	0.99
R1551:Tpr	UTSW	1	150,312,552 (GRCm39)	missense	probably benign	0.00
R1608:Tpr	UTSW	1	150,302,644 (GRCm39)	missense	probably damaging	0.96
R1759:Tpr	UTSW	1	150,305,275 (GRCm39)	missense	probably benign	0.19
R1817:Tpr	UTSW	1	150,295,654 (GRCm39)	missense	probably damaging	0.98
R1932:Tpr	UTSW	1	150,297,414 (GRCm39)	missense	probably benign	0.00
R1978:Tpr	UTSW	1	150,295,658 (GRCm39)	missense	possibly damaging	0.65
R2031:Tpr	UTSW	1	150,317,870 (GRCm39)	missense	probably benign
R2176:Tpr	UTSW	1	150,295,691 (GRCm39)	missense	possibly damaging	0.56
R2235:Tpr	UTSW	1	150,317,843 (GRCm39)	missense	probably benign	0.33
R2339:Tpr	UTSW	1	150,289,525 (GRCm39)	missense	probably benign	0.01
R2367:Tpr	UTSW	1	150,309,479 (GRCm39)	missense	probably damaging	0.99
R2507:Tpr	UTSW	1	150,268,695 (GRCm39)	start codon destroyed	probably null
R3931:Tpr	UTSW	1	150,311,655 (GRCm39)	missense	probably damaging	1.00
R4320:Tpr	UTSW	1	150,299,325 (GRCm39)	missense	possibly damaging	0.96
R4439:Tpr	UTSW	1	150,279,712 (GRCm39)	missense	probably benign	0.01
R4568:Tpr	UTSW	1	150,268,710 (GRCm39)	unclassified	probably benign
R4644:Tpr	UTSW	1	150,299,250 (GRCm39)	missense	probably benign	0.01
R4665:Tpr	UTSW	1	150,320,150 (GRCm39)	missense	probably damaging	0.97
R4672:Tpr	UTSW	1	150,299,318 (GRCm39)	missense	probably benign	0.45
R4673:Tpr	UTSW	1	150,299,318 (GRCm39)	missense	probably benign	0.45
R4735:Tpr	UTSW	1	150,317,947 (GRCm39)	missense	possibly damaging	0.91
R4767:Tpr	UTSW	1	150,306,280 (GRCm39)	intron	probably benign
R4772:Tpr	UTSW	1	150,288,864 (GRCm39)	missense	possibly damaging	0.46
R4815:Tpr	UTSW	1	150,274,359 (GRCm39)	missense	probably benign	0.01
R4839:Tpr	UTSW	1	150,324,948 (GRCm39)	nonsense	probably null
R4844:Tpr	UTSW	1	150,321,630 (GRCm39)	missense	possibly damaging	0.86
R4925:Tpr	UTSW	1	150,308,316 (GRCm39)	missense	probably benign	0.00
R4967:Tpr	UTSW	1	150,285,810 (GRCm39)	missense	probably damaging	0.99
R5017:Tpr	UTSW	1	150,274,388 (GRCm39)	missense	probably benign	0.00
R5096:Tpr	UTSW	1	150,321,953 (GRCm39)	missense	probably damaging	0.99
R5353:Tpr	UTSW	1	150,321,675 (GRCm39)	missense	probably damaging	1.00
R5354:Tpr	UTSW	1	150,321,675 (GRCm39)	missense	probably damaging	1.00
R5484:Tpr	UTSW	1	150,302,639 (GRCm39)	missense	probably benign	0.33
R5601:Tpr	UTSW	1	150,311,604 (GRCm39)	missense	possibly damaging	0.75
R5642:Tpr	UTSW	1	150,299,569 (GRCm39)	missense	probably damaging	0.99
R5779:Tpr	UTSW	1	150,299,292 (GRCm39)	missense	probably damaging	1.00
R5787:Tpr	UTSW	1	150,271,037 (GRCm39)	missense	probably benign	0.01
R5892:Tpr	UTSW	1	150,283,151 (GRCm39)	missense	probably benign	0.44
R5915:Tpr	UTSW	1	150,301,400 (GRCm39)	missense	probably benign	0.15
R5928:Tpr	UTSW	1	150,303,878 (GRCm39)	missense	probably benign	0.30
R6146:Tpr	UTSW	1	150,298,913 (GRCm39)	missense	possibly damaging	0.83
R6154:Tpr	UTSW	1	150,299,567 (GRCm39)	missense	probably benign	0.00
R6234:Tpr	UTSW	1	150,293,790 (GRCm39)	missense	probably benign	0.02
R6263:Tpr	UTSW	1	150,317,996 (GRCm39)	critical splice donor site	probably null
R6318:Tpr	UTSW	1	150,321,639 (GRCm39)	missense	possibly damaging	0.93
R6550:Tpr	UTSW	1	150,299,728 (GRCm39)	missense	probably damaging	1.00
R6592:Tpr	UTSW	1	150,287,656 (GRCm39)	missense	possibly damaging	0.83
R6704:Tpr	UTSW	1	150,282,259 (GRCm39)	missense	possibly damaging	0.80
R6716:Tpr	UTSW	1	150,290,516 (GRCm39)	missense	probably damaging	1.00
R6836:Tpr	UTSW	1	150,312,424 (GRCm39)	splice site	probably null
R6886:Tpr	UTSW	1	150,299,716 (GRCm39)	missense	probably benign	0.00
R6894:Tpr	UTSW	1	150,312,598 (GRCm39)	missense	probably benign	0.28
R6928:Tpr	UTSW	1	150,284,536 (GRCm39)	missense	possibly damaging	0.83
R7011:Tpr	UTSW	1	150,309,523 (GRCm39)	missense	probably damaging	1.00
R7034:Tpr	UTSW	1	150,299,358 (GRCm39)	missense	probably benign	0.02
R7036:Tpr	UTSW	1	150,299,358 (GRCm39)	missense	probably benign	0.02
R7183:Tpr	UTSW	1	150,282,302 (GRCm39)	missense	probably damaging	1.00
R7221:Tpr	UTSW	1	150,321,929 (GRCm39)	missense	possibly damaging	0.96
R7223:Tpr	UTSW	1	150,315,007 (GRCm39)	missense	possibly damaging	0.53
R7294:Tpr	UTSW	1	150,279,638 (GRCm39)	missense	probably damaging	1.00
R7343:Tpr	UTSW	1	150,269,245 (GRCm39)	missense	unknown
R7361:Tpr	UTSW	1	150,323,372 (GRCm39)	missense	possibly damaging	0.73
R7405:Tpr	UTSW	1	150,317,878 (GRCm39)	missense	probably benign	0.02
R7637:Tpr	UTSW	1	150,299,267 (GRCm39)	missense	probably damaging	1.00
R7720:Tpr	UTSW	1	150,305,283 (GRCm39)	missense	possibly damaging	0.49
R7721:Tpr	UTSW	1	150,320,180 (GRCm39)	missense	probably benign
R7751:Tpr	UTSW	1	150,295,646 (GRCm39)	missense	probably benign	0.17
R7804:Tpr	UTSW	1	150,308,310 (GRCm39)	missense	probably damaging	0.99
R7878:Tpr	UTSW	1	150,299,411 (GRCm39)	missense	possibly damaging	0.67
R7973:Tpr	UTSW	1	150,279,638 (GRCm39)	missense	probably damaging	1.00
R8013:Tpr	UTSW	1	150,274,359 (GRCm39)	missense	probably benign
R8220:Tpr	UTSW	1	150,308,164 (GRCm39)	missense	probably benign	0.05
R8428:Tpr	UTSW	1	150,290,564 (GRCm39)	missense	probably damaging	1.00
R8482:Tpr	UTSW	1	150,309,451 (GRCm39)	missense	probably damaging	1.00
R8699:Tpr	UTSW	1	150,293,772 (GRCm39)	missense	probably damaging	0.99
R8859:Tpr	UTSW	1	150,284,597 (GRCm39)	missense	possibly damaging	0.90
R9119:Tpr	UTSW	1	150,279,753 (GRCm39)	missense	probably damaging	0.99
R9326:Tpr	UTSW	1	150,301,407 (GRCm39)	missense	possibly damaging	0.86
R9618:Tpr	UTSW	1	150,321,979 (GRCm39)	missense	possibly damaging	0.70
R9680:Tpr	UTSW	1	150,314,887 (GRCm39)	missense	probably benign	0.32
R9776:Tpr	UTSW	1	150,324,939 (GRCm39)	missense	probably benign	0.00
X0021:Tpr	UTSW	1	150,270,958 (GRCm39)	missense	probably damaging	1.00
Z1177:Tpr	UTSW	1	150,303,986 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATGTGAAAGCCCAGTGC -3'
(R):5'- CAACAACTGGGATTCTGCTTTC -3'

Sequencing Primer
(F):5'- GTAGGGTTGCTGGCTACC -3'
(R):5'- CTGAGTTGTTTCTTCCAAATGCTGAC -3'

Posted On

2020-11-09