Mutagenetix > Incidental Mutation

Incidental Mutation 'R6550:Tpr'

521472

Institutional Source

Beutler Lab

Gene Symbol

Tpr

Ensembl Gene

ENSMUSG00000006005

Gene Name

translocated promoter region, nuclear basket protein

Synonyms

2610029M07Rik

MMRRC Submission

044675-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150268589-150325686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150299728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1200 (L1200F)

Ref Sequence

ENSEMBL: ENSMUSP00000112606 (fasta)

Gene Model

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

AlphaFold

F6ZDS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000119161
AA Change: L1200F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
AA Change: L1200F

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 damaging
Transcript: ENSMUST00000124973
AA Change: L1274F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
AA Change: L1274F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132522

Meta Mutation Damage Score

0.5842

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

98% (39/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	A	G	2: 22,748,245 (GRCm39)	D355G	probably damaging	Het
Asz1	T	C	6: 18,051,380 (GRCm39)	D433G	probably damaging	Het
Atl3	A	G	19: 7,499,503 (GRCm39)	T256A	probably benign	Het
Atp8b4	T	A	2: 126,266,113 (GRCm39)	T183S	probably damaging	Het
Bahcc1	C	T	11: 120,167,477 (GRCm39)	H1293Y	possibly damaging	Het
Bin2	A	G	15: 100,543,358 (GRCm39)	V243A	probably benign	Het
Camta1	A	C	4: 151,222,832 (GRCm39)	F908L	probably damaging	Het
Cbx2	T	C	11: 118,919,851 (GRCm39)	V472A	possibly damaging	Het
Cd22	T	C	7: 30,576,977 (GRCm39)	D110G	probably benign	Het
Cfap69	A	T	5: 5,631,220 (GRCm39)	D764E	probably benign	Het
Col2a1	A	G	15: 97,874,674 (GRCm39)	I1321T	unknown	Het
Cyp2c67	G	T	19: 39,605,854 (GRCm39)	Y347*	probably null	Het
D630044L22Rik	A	T	17: 26,180,628 (GRCm39)	R66S	possibly damaging	Het
Defa27	A	C	8: 21,806,340 (GRCm39)	R46S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,886 (GRCm39)	M58V	probably benign	Het
Efhb	G	T	17: 53,728,968 (GRCm39)	H574N	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin1	A	T	19: 44,025,602 (GRCm39)		probably null	Het
Gm10912	C	T	2: 103,896,996 (GRCm39)	T45I	possibly damaging	Het
Hsh2d	C	A	8: 72,952,297 (GRCm39)	T156K	probably benign	Het
Lrrc49	G	T	9: 60,584,430 (GRCm39)	Q139K	probably benign	Het
Map3k21	A	G	8: 126,664,031 (GRCm39)	S531G	probably damaging	Het
Mcm2	A	G	6: 88,863,941 (GRCm39)		probably null	Het
Mtarc2	C	A	1: 184,551,539 (GRCm39)	R299L	probably damaging	Het
Myo9a	T	C	9: 59,775,482 (GRCm39)	F1031S	probably damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2n1d	C	T	17: 38,646,896 (GRCm39)	P283S	possibly damaging	Het
Pmfbp1	T	C	8: 110,246,839 (GRCm39)	V237A	possibly damaging	Het
Polrmt	C	A	10: 79,575,514 (GRCm39)	Q672H	probably damaging	Het
Pp2d1	T	C	17: 53,822,604 (GRCm39)	D154G	probably damaging	Het
Rars1	T	C	11: 35,724,010 (GRCm39)	I57V	probably benign	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Slc8b1	A	G	5: 120,662,082 (GRCm39)	E257G	probably damaging	Het
Spata31e3	G	A	13: 50,399,482 (GRCm39)	P948L	probably benign	Het
Tasor2	A	G	13: 3,640,519 (GRCm39)	V206A	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem87b	T	A	2: 128,666,385 (GRCm39)	H77Q	possibly damaging	Het
Trir	G	T	8: 85,756,549 (GRCm39)	V154L	probably damaging	Het
Wdfy3	A	G	5: 102,101,032 (GRCm39)	V195A	probably benign	Het
Zdhhc5	T	C	2: 84,526,685 (GRCm39)	I96V	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
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
R8274:Tpr	UTSW	1	150,299,230 (GRCm39)	splice site	probably benign
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'- TGTTCTGAAGAAAGGAAAGGGTTTC -3'
(R):5'- AGCAGCTCAAGTTCTTCCTATGAG -3'

Sequencing Primer
(F):5'- ACATTATGATGGACCCTTGGC -3'
(R):5'- GAGATTCAACCTTACAAGCATGG -3'

Posted On

2018-06-06