Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Tmpo'

21766

Institutional Source

Beutler Lab

Gene Symbol

Tmpo

Ensembl Gene

ENSMUSG00000019961

Gene Name

thymopoietin

Synonyms

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

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90983433-91017177 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 90999900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100930 (fasta)

Gene Model

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

AlphaFold

Q61033

Predicted Effect

probably benign
Transcript: ENSMUST00000020123

SMART Domains

Protein: ENSMUSP00000020123
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	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: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Ikzf1	T	A	11: 11,691,015 (GRCm39)		probably null	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,294,502 (GRCm39)	C579R	probably damaging	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Kif17	T	C	4: 138,005,556 (GRCm39)	S182P	possibly damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Ksr2	T	G	5: 117,693,359 (GRCm39)	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,738,522 (GRCm39)	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly damaging	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
R0450:Tmpo	UTSW	10	90,998,958 (GRCm39)	missense	probably benign	0.45
R0469: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'- GCGACTCATCTGCTATACAGTGCC -3'
(R):5'- TGGAACTTCTCCCTTAACCCAGGAAC -3'

Sequencing Primer
(F):5'- AGTAGCATGTCCTAATCTGGTC -3'
(R):5'- TTAACCCAGGAACAACCAGGAAG -3'

Posted On

2013-04-12