Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Tmpo'

323339

Institutional Source

Beutler Lab

Gene Symbol

Tmpo

Ensembl Gene

ENSMUSG00000019961

Gene Name

thymopoietin

Synonyms

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

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90983433-91017177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90998818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 323 (I323K)

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

possibly damaging
Transcript: ENSMUST00000020123
AA Change: I323K

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: I323K

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: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	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
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
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'- ACCCTGGACTAACAGAGAATTGAC -3'
(R):5'- TTGTACTGATACGGCCTTGCC -3'

Sequencing Primer
(F):5'- GACATAATCTCGAATTGCCTGAGC -3'
(R):5'- GGGCAGACGCACAAGTTAGC -3'

Posted On

2015-06-20