Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Tpr'

185610

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 #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

150268589-150325686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150289525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 619 (S619P)

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: S619P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
AA Change: S619P

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: S693P

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
AA Change: S693P

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: ENSMUST00000141827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147769

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,827 (GRCm39)	E770K	possibly damaging	Het
Abhd17a	C	A	10: 80,422,395 (GRCm39)	A22S	probably benign	Het
Actbl2	A	G	13: 111,392,225 (GRCm39)	T187A	probably benign	Het
Adgrl3	G	A	5: 81,660,064 (GRCm39)	G278R	probably damaging	Het
Apoh	C	A	11: 108,305,131 (GRCm39)		probably benign	Het
Atp2b2	A	G	6: 113,790,828 (GRCm39)	F192S	probably damaging	Het
Bdh1	T	C	16: 31,268,754 (GRCm39)	I163T	possibly damaging	Het
Bmp1	G	T	14: 70,723,660 (GRCm39)	N725K	probably damaging	Het
Bmp1	T	A	14: 70,727,547 (GRCm39)	I679F	probably damaging	Het
Bmp2	T	A	2: 133,402,844 (GRCm39)	F132I	probably benign	Het
Bpifb5	T	C	2: 154,069,103 (GRCm39)	L140P	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,279 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,586 (GRCm39)	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,342 (GRCm39)	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373 (GRCm39)		probably benign	Het
Cep126	A	G	9: 8,099,925 (GRCm39)	S870P	probably benign	Het
Col6a4	T	C	9: 105,954,302 (GRCm39)	T346A	probably damaging	Het
Csmd3	A	C	15: 47,530,024 (GRCm39)	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,504,244 (GRCm39)	F239I	probably damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
F5	G	A	1: 164,017,695 (GRCm39)	V591M	probably damaging	Het
Fchsd2	T	G	7: 100,826,429 (GRCm39)		probably null	Het
Flad1	A	T	3: 89,316,294 (GRCm39)	D89E	probably damaging	Het
Fsd1	C	A	17: 56,303,499 (GRCm39)	P457Q	probably damaging	Het
Gm21985	A	G	2: 112,187,929 (GRCm39)	D1012G	possibly damaging	Het
Gon4l	A	G	3: 88,764,517 (GRCm39)	D366G	probably null	Het
Hadha	A	G	5: 30,347,843 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,122,513 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,426,136 (GRCm39)	K24R	probably benign	Het
Map3k21	A	G	8: 126,668,397 (GRCm39)	D661G	probably benign	Het
Mical1	A	T	10: 41,360,407 (GRCm39)	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,310,435 (GRCm39)	K204E	possibly damaging	Het
Nmral1	T	A	16: 4,534,346 (GRCm39)	I32F	probably benign	Het
Nrros	T	C	16: 31,963,492 (GRCm39)	D175G	possibly damaging	Het
Or10ak8	G	A	4: 118,773,968 (GRCm39)	T232I	probably benign	Het
Or12j5	T	C	7: 140,084,077 (GRCm39)	I98M	probably benign	Het
Ryr2	A	G	13: 11,587,143 (GRCm39)	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,275,301 (GRCm39)	G142D	possibly damaging	Het
Slc10a1	A	G	12: 81,007,248 (GRCm39)	S178P	possibly damaging	Het
Spint1	G	A	2: 119,068,698 (GRCm39)	R144H	probably benign	Het
Sult6b1	C	T	17: 79,196,504 (GRCm39)	G213R	probably damaging	Het
Themis3	G	T	17: 66,862,900 (GRCm39)	H353N	probably benign	Het
Ttn	A	T	2: 76,645,134 (GRCm39)	V11161E	probably damaging	Het
Usp13	G	A	3: 32,987,314 (GRCm39)	V837I	probably damaging	Het
Usp25	T	C	16: 76,880,670 (GRCm39)	V677A	probably benign	Het
Wdr62	A	G	7: 29,942,894 (GRCm39)	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,336,822 (GRCm39)	I580N	possibly damaging	Het
Wls	T	A	3: 159,616,993 (GRCm39)	V344D	probably damaging	Het
Zan	A	T	5: 137,385,222 (GRCm39)	Y5070*	probably null	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
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
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

2014-05-07