Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01952:Tmpo'

279198

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmpo

Ensembl Gene

ENSMUSG00000019961

Gene Name

thymopoietin

Synonyms

lamina-associated polypeptide 2, TP, LAP2, 5630400D24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01952

Quality Score

Status

Chromosome

Chromosomal Location

91147571-91181315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91163242 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 228 (R228C)

Ref Sequence

ENSEMBL: ENSMUSP00000020123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020123] [ENSMUST00000072239] [ENSMUST00000092219] [ENSMUST00000099355] [ENSMUST00000105293]

PDB Structure

THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020123
AA Change: R228C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: R228C

Domain	Start	End	E-Value	Type
Thymopoietin	2	50	8.83e-30	SMART
low complexity region	78	91	N/A	INTRINSIC
LEM	109	152	5.83e-21	SMART
low complexity region	189	197	N/A	INTRINSIC
low complexity region	410	422	N/A	INTRINSIC
Pfam:LAP2alpha	459	692	6.4e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072239

SMART Domains

Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961

Domain	Start	End	E-Value	Type
Thymopoietin	2	50	8.83e-30	SMART
low complexity region	78	91	N/A	INTRINSIC
LEM	109	152	5.83e-21	SMART
low complexity region	226	240	N/A	INTRINSIC
transmembrane domain	410	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092219

SMART Domains

Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961

Domain	Start	End	E-Value	Type
Thymopoietin	2	50	8.83e-30	SMART
low complexity region	78	91	N/A	INTRINSIC
LEM	109	152	5.83e-21	SMART
transmembrane domain	370	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099355

SMART Domains

Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961

Domain	Start	End	E-Value	Type
Thymopoietin	2	50	8.83e-30	SMART
low complexity region	78	91	N/A	INTRINSIC
LEM	109	152	5.83e-21	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105293

SMART Domains

Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961

Domain	Start	End	E-Value	Type
Thymopoietin	2	50	8.83e-30	SMART
low complexity region	78	91	N/A	INTRINSIC
LEM	109	152	5.83e-21	SMART
transmembrane domain	301	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217449

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astl	T	C	2: 127,342,478		probably null	Het
Bod1l	C	T	5: 41,816,954	C2339Y	possibly damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Dbr1	T	A	9: 99,582,412	N297K	possibly damaging	Het
Dmxl1	A	G	18: 49,890,654	H1668R	probably benign	Het
Dnajb11	A	G	16: 22,865,500	E91G	probably damaging	Het
Elmsan1	G	A	12: 84,173,266	P305S	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Grin2d	C	A	7: 45,862,280	R247L	probably benign	Het
Gzf1	G	A	2: 148,684,061	A151T	probably benign	Het
Hacl1	C	T	14: 31,641,122		probably benign	Het
Hivep2	C	A	10: 14,142,331	T1854K	possibly damaging	Het
Htr1d	T	C	4: 136,443,561	V367A	probably benign	Het
Ifi208	T	C	1: 173,679,031	S127P	possibly damaging	Het
Ifngr2	C	T	16: 91,559,988	P137S	probably damaging	Het
Lcn9	T	C	2: 25,824,538	L138P	probably damaging	Het
Mdn1	T	C	4: 32,723,657	V2531A	possibly damaging	Het
Meioc	A	T	11: 102,672,185	I70F	possibly damaging	Het
Mlph	A	C	1: 90,933,471	D276A	probably benign	Het
Myh1	T	A	11: 67,220,392		probably null	Het
Nlrp9a	G	A	7: 26,558,019	S265N	probably benign	Het
Ofcc1	G	A	13: 40,280,861	A22V	probably damaging	Het
Olfr736	T	A	14: 50,393,403	F216I	probably benign	Het
Pisd	C	A	5: 32,739,132		probably null	Het
Prlr	A	G	15: 10,328,342	D301G	possibly damaging	Het
Ptk2	T	C	15: 73,229,931	E810G	probably damaging	Het
Slco1b2	T	G	6: 141,671,230	F430V	probably benign	Het
Supt6	T	C	11: 78,225,760	K646R	probably benign	Het
Tmem260	C	T	14: 48,472,476	A52V	probably damaging	Het
Tulp1	G	A	17: 28,356,424	T103M	probably damaging	Het
Vwa5b1	G	A	4: 138,581,217	P770S	probably benign	Het
Wdr63	T	C	3: 146,097,163	H91R	probably damaging	Het
Zfp639	A	G	3: 32,515,347	Y18C	probably damaging	Het

Other mutations in Tmpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Tmpo	APN	10	91164206	splice site	probably benign
IGL00791:Tmpo	APN	10	91162558	missense	possibly damaging	0.94
IGL00919:Tmpo	APN	10	91162800	missense	probably damaging	0.99
IGL01382:Tmpo	APN	10	91166050	missense	probably damaging	1.00
IGL01806:Tmpo	APN	10	91163242	missense	probably benign	0.01
IGL01813:Tmpo	APN	10	91163242	missense	probably benign	0.01
IGL01838:Tmpo	APN	10	91163242	missense	probably benign	0.01
IGL02110:Tmpo	APN	10	91162865	missense	probably damaging	1.00
IGL02122:Tmpo	APN	10	91164136	missense	possibly damaging	0.77
IGL02191:Tmpo	APN	10	91161879	missense	probably benign	0.00
IGL02338:Tmpo	APN	10	91163242	missense	probably benign	0.01
PIT4366001:Tmpo	UTSW	10	91163310	missense	probably damaging	1.00
PIT4544001:Tmpo	UTSW	10	91162114	missense	probably benign
R0133:Tmpo	UTSW	10	91164038	splice site	probably benign
R0450:Tmpo	UTSW	10	91163096	missense	probably benign	0.45
R0469:Tmpo	UTSW	10	91163096	missense	probably benign	0.45
R0836:Tmpo	UTSW	10	91161953	nonsense	probably null
R2405:Tmpo	UTSW	10	91163354	missense	probably damaging	1.00
R2919:Tmpo	UTSW	10	91152686	missense	probably benign	0.23
R4059:Tmpo	UTSW	10	91162261	missense	probably benign	0.00
R4296:Tmpo	UTSW	10	91162956	missense	possibly damaging	0.49
R4741:Tmpo	UTSW	10	91162644	missense	probably benign	0.18
R4881:Tmpo	UTSW	10	91162641	missense	possibly damaging	0.93
R4915:Tmpo	UTSW	10	91149549	missense	probably damaging	1.00
R4917:Tmpo	UTSW	10	91149549	missense	probably damaging	1.00
R4960:Tmpo	UTSW	10	91153309	missense	probably damaging	1.00
R5002:Tmpo	UTSW	10	91164114	missense	possibly damaging	0.76
R5301:Tmpo	UTSW	10	91149788	intron	probably benign
R6167:Tmpo	UTSW	10	91162938	missense	probably benign
R6190:Tmpo	UTSW	10	91164207	splice site	probably null
R6979:Tmpo	UTSW	10	91152497	intron	probably null
R7880:Tmpo	UTSW	10	91166030	nonsense	probably null
R8343:Tmpo	UTSW	10	91162112	missense	probably benign	0.00
Z1177:Tmpo	UTSW	10	91162860	missense	probably benign	0.30

Posted On

2015-04-16