Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Tmpo'

77931

Institutional Source

Beutler Lab

Gene Symbol

Tmpo

Ensembl Gene

ENSMUSG00000019961

Gene Name

thymopoietin

Synonyms

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

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90983433-91017177 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90997815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 657 (C657*)

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 null
Transcript: ENSMUST00000020123
AA Change: C657*

SMART Domains

Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: C657*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,177,824 (GRCm39)	G7D	probably benign	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Asphd2	A	T	5: 112,539,635 (GRCm39)	L66H	probably damaging	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,775 (GRCm39)		probably benign	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Cfap43	C	A	19: 47,804,285 (GRCm39)	V304L	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,623,210 (GRCm39)	S124P	probably damaging	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,998 (GRCm39)	H278R	probably benign	Het
Fhod3	T	A	18: 25,199,275 (GRCm39)	Y649N	probably damaging	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itga2	A	G	13: 114,993,215 (GRCm39)	V800A	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Kcnd2	T	A	6: 21,727,328 (GRCm39)	V627E	probably damaging	Het
Kcnd2	T	C	6: 21,726,238 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,938,519 (GRCm39)		probably null	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Macf1	A	G	4: 123,388,675 (GRCm39)		probably null	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Nfkbia	C	A	12: 55,537,561 (GRCm39)	A211S	probably damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Pmch	A	G	10: 87,927,086 (GRCm39)	I30V	probably benign	Het
Ppat	A	C	5: 77,070,348 (GRCm39)	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rbp3	T	G	14: 33,678,595 (GRCm39)	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,225,049 (GRCm39)	T397A	probably benign	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Sorcs3	G	A	19: 48,475,833 (GRCm39)	V231I	probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,718,925 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Thbs4	T	G	13: 92,894,546 (GRCm39)	D659A	probably damaging	Het
Tmed11	A	T	5: 108,943,175 (GRCm39)	M1K	probably null	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,575,822 (GRCm39)	H231L	possibly damaging	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
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
R0469:Tmpo	UTSW	10	90,998,958 (GRCm39)	missense	probably benign	0.45
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'- GGATGAGTGGTAGCGTAACACCTTG -3'
(R):5'- TCAGCATTGCAGATTGCAGCCC -3'

Sequencing Primer
(F):5'- GGTAGCGTAACACCTTGAAATTAGC -3'
(R):5'- AGCTAAGTCTCTGCAAGCTG -3'

Posted On

2013-10-16