Mutagenetix > Incidental Mutation

Incidental Mutation 'F6893:Tpr'

207

Institutional Source

Beutler Lab

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 #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

150268589-150325686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150269313 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Lysine to Glutamic Acid at position 19 (K19E)

Ref Sequence

ENSEMBL: ENSMUSP00000112606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913] [ENSMUST00000119161] [ENSMUST00000124973]

AlphaFold

F6ZDS4

Predicted Effect

probably benign
Transcript: ENSMUST00000006167

SMART Domains

Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094477

SMART Domains

Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	383	2.8e-120	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097546

SMART Domains

Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097547

SMART Domains

Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	209	1.2e-57	PFAM
Pfam:ODR4-like	206	354	3.1e-43	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111913

SMART Domains

Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	386	7.1e-113	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119161
AA Change: K19E

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
AA Change: K19E

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: K93E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
AA Change: K93E

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: ENSMUST00000131701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150615

Meta Mutation Damage Score

0.1188

Coding Region Coverage

1x: 88.7%
3x: 74.0%

Validation Efficiency

88% (165/188)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,924,261 (GRCm39)	V1638M	probably damaging	Het
Agrn	C	T	4: 156,258,636 (GRCm39)	R972Q	probably benign	Het
Anxa3	T	C	5: 96,972,853 (GRCm39)		probably benign	Het
Bpifa6	G	T	2: 153,829,078 (GRCm39)	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,226,936 (GRCm39)	T346I	probably damaging	Homo
Celsr3	G	A	9: 108,712,266 (GRCm39)	R1731H	probably benign	Het
Ces4a	A	G	8: 105,873,859 (GRCm39)	R443G	possibly damaging	Het
Chd2	T	C	7: 73,157,620 (GRCm39)	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,597,783 (GRCm39)		probably null	Het
Dscam	G	T	16: 96,857,660 (GRCm39)	H117N	possibly damaging	Het
F13a1	A	G	13: 37,155,999 (GRCm39)	Y205H	probably damaging	Het
Fat3	A	C	9: 15,918,085 (GRCm39)	L1446R	probably damaging	Homo
Golga4	T	C	9: 118,382,525 (GRCm39)	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,256,728 (GRCm39)	T26S	probably benign	Het
Igsf10	T	G	3: 59,238,481 (GRCm39)	T567P	probably damaging	Het
Lamb2	T	C	9: 108,359,755 (GRCm39)	V365A	probably benign	Het
Mepe	A	G	5: 104,485,242 (GRCm39)	I127M	possibly damaging	Het
Mpi	A	T	9: 57,453,832 (GRCm39)	M230K	probably benign	Homo
Myh4	A	G	11: 67,146,283 (GRCm39)	D1447G	probably null	Homo
Or1f19	A	G	16: 3,411,027 (GRCm39)	I256V	possibly damaging	Het
Or1j4	A	G	2: 36,740,819 (GRCm39)	T254A	probably benign	Het
Panx2	T	C	15: 88,952,213 (GRCm39)	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,025,173 (GRCm39)	W441R	probably damaging	Het
Poldip2	A	G	11: 78,410,020 (GRCm39)	I267M	probably damaging	Homo
Pros1	T	A	16: 62,745,002 (GRCm39)	V539E	probably damaging	Het
Sacs	T	C	14: 61,450,425 (GRCm39)	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,909,075 (GRCm39)	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,149,457 (GRCm39)	E761G	probably benign	Homo
Stab2	G	A	10: 86,691,035 (GRCm39)	P2178L	probably damaging	Het
Syt4	C	T	18: 31,577,274 (GRCm39)	V27I	possibly damaging	Homo
Thumpd1	T	A	7: 119,319,799 (GRCm39)	K56*	probably null	Het
Ttll10	A	G	4: 156,132,775 (GRCm39)	I74T	probably benign	Het
Txnrd1	C	T	10: 82,702,823 (GRCm39)	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,662,872 (GRCm39)	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,525 (GRCm39)	D51E	probably benign	Homo

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
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 383 of the Tpr transcript in exon 2 of 4 total exons. Multiple transcripts of the Tpr gene are displayed at Ensembl. The mutated nucleotide causes a lysine to glutamic acid substitution at amino acid 93 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Tpr gene encodes a 2431 amino acid protein associated with the nuclear pore and is involved in protein import into the nucleus (Uniprot Q7M739).

The K93E change is predicted to be benign by the PolyPhen program.

Posted On

2010-05-04