Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03333:Tpr'

416919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpr

Ensembl Gene

ENSMUSG00000006005

Gene Name

translocated promoter region, nuclear basket protein

Synonyms

2610029M07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03333

Quality Score

Status

Chromosome

Chromosomal Location

150268589-150325686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150302718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1331 (D1331E)

Ref Sequence

ENSEMBL: ENSMUSP00000112606 (fasta)

Gene Model

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

AlphaFold

F6ZDS4

Predicted Effect

probably benign
Transcript: ENSMUST00000119161
AA Change: D1331E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
AA Change: D1331E

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
AA Change: D1405E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
AA Change: D1405E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150752

Predicted Effect

probably benign
Transcript: ENSMUST00000151563

SMART Domains

Protein: ENSMUSP00000116012
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
coiled coil region	1	27	N/A	INTRINSIC
coiled coil region	79	235	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	368	384	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	588	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,610,932 (GRCm39)	M893V	probably benign	Het
Ccdc185	C	A	1: 182,576,398 (GRCm39)	G97V	probably damaging	Het
Cep170	T	C	1: 176,597,092 (GRCm39)	T422A	possibly damaging	Het
Ckap2l	A	C	2: 129,138,228 (GRCm39)		probably null	Het
Cpa3	A	G	3: 20,269,992 (GRCm39)	Y411H	possibly damaging	Het
Dnah2	C	A	11: 69,385,949 (GRCm39)	R1011L	probably damaging	Het
Efnb2	T	A	8: 8,689,275 (GRCm39)	K30*	probably null	Het
Ep400	C	T	5: 110,851,432 (GRCm39)	R1350H	unknown	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
Exoc7	C	A	11: 116,191,987 (GRCm39)	V195L	probably benign	Het
Fbxw8	T	C	5: 118,233,660 (GRCm39)	M324V	possibly damaging	Het
Fchsd2	T	C	7: 100,847,703 (GRCm39)	S198P	probably damaging	Het
Gcdh	T	C	8: 85,617,700 (GRCm39)	T202A	probably benign	Het
Gm6619	G	A	6: 131,467,471 (GRCm39)		probably benign	Het
Itpr1	A	T	6: 108,357,871 (GRCm39)		probably benign	Het
Kif2c	A	C	4: 117,037,833 (GRCm39)	V31G	possibly damaging	Het
Kpna7	T	C	5: 144,942,765 (GRCm39)	I74V	possibly damaging	Het
Lvrn	G	A	18: 46,997,731 (GRCm39)		probably benign	Het
Man2b2	T	A	5: 36,973,483 (GRCm39)	I499F	probably damaging	Het
Mmd2	G	T	5: 142,553,693 (GRCm39)		probably benign	Het
Or11h7	C	T	14: 50,890,855 (GRCm39)	Q54*	probably null	Het
Or2r11	T	C	6: 42,437,773 (GRCm39)	Y60C	probably damaging	Het
Or6b1	T	A	6: 42,815,637 (GRCm39)	I274N	possibly damaging	Het
Or8g2b	T	A	9: 39,751,308 (GRCm39)	Y193N	probably damaging	Het
Parp14	A	G	16: 35,661,800 (GRCm39)	S1412P	probably benign	Het
Prr30	A	T	14: 101,435,827 (GRCm39)	V245E	possibly damaging	Het
Ros1	T	A	10: 52,031,267 (GRCm39)	D458V	probably damaging	Het
Sec22c	A	G	9: 121,517,284 (GRCm39)	L138P	probably damaging	Het
Sema6d	C	A	2: 124,506,290 (GRCm39)	H699Q	possibly damaging	Het
Spata17	A	T	1: 186,872,667 (GRCm39)	M1K	probably null	Het
Ttc4	A	G	4: 106,533,828 (GRCm39)	Y120H	probably benign	Het
Tubgcp4	A	G	2: 121,026,654 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,371,348 (GRCm39)	M285K	probably benign	Het
Vmn1r222	A	T	13: 23,417,177 (GRCm39)	F12Y	probably benign	Het
Vmn2r72	T	C	7: 85,400,075 (GRCm39)	K325E	probably benign	Het
Vps33b	T	C	7: 79,923,973 (GRCm39)		probably benign	Het
Zfp784	C	T	7: 5,039,351 (GRCm39)		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
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
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

Posted On

2016-08-02