Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Tmpo'

43153

Institutional Source

Beutler Lab

Gene Symbol

Tmpo

Ensembl Gene

ENSMUSG00000019961

Gene Name

thymopoietin

Synonyms

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

MMRRC Submission

038669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90983433-91017177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90998958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 276 (I276M)

Ref Sequence

ENSEMBL: ENSMUSP00000020123 (fasta)

Gene Model

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

AlphaFold

Q61033

PDB Structure

THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020123
AA Change: I276M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: I276M

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: ENSMUST00000216501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216402

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or1j10	A	T	2: 36,267,474 (GRCm39)	I229F	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het

Other mutations in Tmpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Tmpo	APN	10	91,000,068 (GRCm39)	splice site	probably benign
IGL00791:Tmpo	APN	10	90,998,420 (GRCm39)	missense	possibly damaging	0.94
IGL00919:Tmpo	APN	10	90,998,662 (GRCm39)	missense	probably damaging	0.99
IGL01382:Tmpo	APN	10	91,001,912 (GRCm39)	missense	probably damaging	1.00
IGL01806:Tmpo	APN	10	90,999,104 (GRCm39)	missense	probably benign	0.01
IGL01813:Tmpo	APN	10	90,999,104 (GRCm39)	missense	probably benign	0.01
IGL01838:Tmpo	APN	10	90,999,104 (GRCm39)	missense	probably benign	0.01
IGL01952:Tmpo	APN	10	90,999,104 (GRCm39)	missense	probably benign	0.01
IGL02110:Tmpo	APN	10	90,998,727 (GRCm39)	missense	probably damaging	1.00
IGL02122:Tmpo	APN	10	90,999,998 (GRCm39)	missense	possibly damaging	0.77
IGL02191:Tmpo	APN	10	90,997,741 (GRCm39)	missense	probably benign	0.00
IGL02338:Tmpo	APN	10	90,999,104 (GRCm39)	missense	probably benign	0.01
PIT4366001:Tmpo	UTSW	10	90,999,172 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Tmpo	UTSW	10	90,997,976 (GRCm39)	missense	probably benign
R0133:Tmpo	UTSW	10	90,999,900 (GRCm39)	splice site	probably benign
R0450:Tmpo	UTSW	10	90,998,958 (GRCm39)	missense	probably benign	0.45
R0836:Tmpo	UTSW	10	90,997,815 (GRCm39)	nonsense	probably null
R2405:Tmpo	UTSW	10	90,999,216 (GRCm39)	missense	probably damaging	1.00
R2919:Tmpo	UTSW	10	90,988,548 (GRCm39)	missense	probably benign	0.23
R4059:Tmpo	UTSW	10	90,998,123 (GRCm39)	missense	probably benign	0.00
R4296:Tmpo	UTSW	10	90,998,818 (GRCm39)	missense	possibly damaging	0.49
R4741:Tmpo	UTSW	10	90,998,506 (GRCm39)	missense	probably benign	0.18
R4881:Tmpo	UTSW	10	90,998,503 (GRCm39)	missense	possibly damaging	0.93
R4915:Tmpo	UTSW	10	90,985,411 (GRCm39)	missense	probably damaging	1.00
R4917:Tmpo	UTSW	10	90,985,411 (GRCm39)	missense	probably damaging	1.00
R4960:Tmpo	UTSW	10	90,989,171 (GRCm39)	missense	probably damaging	1.00
R5002:Tmpo	UTSW	10	90,999,976 (GRCm39)	missense	possibly damaging	0.76
R5301:Tmpo	UTSW	10	90,985,650 (GRCm39)	intron	probably benign
R6167:Tmpo	UTSW	10	90,998,800 (GRCm39)	missense	probably benign
R6190:Tmpo	UTSW	10	91,000,069 (GRCm39)	splice site	probably null
R6979:Tmpo	UTSW	10	90,988,359 (GRCm39)	splice site	probably null
R7880:Tmpo	UTSW	10	91,001,892 (GRCm39)	nonsense	probably null
R8343:Tmpo	UTSW	10	90,997,974 (GRCm39)	missense	probably benign	0.00
R8492:Tmpo	UTSW	10	90,997,720 (GRCm39)	missense	probably benign	0.04
R8870:Tmpo	UTSW	10	90,987,581 (GRCm39)	missense	probably damaging	1.00
R9088:Tmpo	UTSW	10	90,989,138 (GRCm39)	critical splice donor site	probably null
R9328:Tmpo	UTSW	10	90,998,825 (GRCm39)	missense	probably damaging	1.00
R9598:Tmpo	UTSW	10	90,994,608 (GRCm39)	critical splice donor site	probably null
Z1177:Tmpo	UTSW	10	90,998,722 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TCTCGAATTGCCTGAGCAAGTGG -3'
(R):5'- ACCAGTCATGCTTAAACTTCCTGCC -3'

Sequencing Primer
(F):5'- TGACTGATCTGACACGCCAG -3'
(R):5'- TTTTGCCTCTACAGGAAAGAAGAAAG -3'

Posted On

2013-05-23