Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01569:Tpm1'

91101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpm1

Ensembl Gene

ENSMUSG00000032366

Gene Name

tropomyosin 1, alpha

Synonyms

TM2, Tpm-1, alpha-TM, Tm3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01569

Quality Score

Status

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66938390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030185] [ENSMUST00000034928] [ENSMUST00000050905] [ENSMUST00000113684] [ENSMUST00000113685] [ENSMUST00000113686] [ENSMUST00000113687] [ENSMUST00000113697] [ENSMUST00000113707] [ENSMUST00000113696] [ENSMUST00000113693] [ENSMUST00000113695] [ENSMUST00000113701] [ENSMUST00000129733] [ENSMUST00000113705] [ENSMUST00000139046] [ENSMUST00000113689] [ENSMUST00000113690]

AlphaFold

P58771

Predicted Effect

probably null
Transcript: ENSMUST00000030185

SMART Domains

Protein: ENSMUSP00000030185
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	1.7e-39	PFAM
Pfam:Tropomyosin	48	284	1.7e-102	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000034928

SMART Domains

Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:Tropomyosin_1	56	195	4.1e-29	PFAM
Pfam:Tropomyosin	90	326	5.9e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000050905

SMART Domains

Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	2.2e-39	PFAM
Pfam:Tropomyosin	48	284	5.1e-98	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113684

SMART Domains

Protein: ENSMUSP00000109314
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	3	117	1.4e-22	PFAM
Pfam:Tropomyosin	12	248	8.1e-95	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113685

SMART Domains

Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	2.2e-39	PFAM
Pfam:Tropomyosin	48	284	3.1e-102	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113686

SMART Domains

Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	2.9e-23	PFAM
Pfam:Tropomyosin	12	228	8.4e-92	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113687

SMART Domains

Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	7.4e-40	PFAM
Pfam:Tropomyosin	48	264	1.8e-92	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113697

SMART Domains

Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	2.2e-39	PFAM
Pfam:Tropomyosin	48	284	1.1e-94	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113707

SMART Domains

Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	2.2e-39	PFAM
Pfam:Tropomyosin	48	284	6.3e-99	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113696

SMART Domains

Protein: ENSMUSP00000109326
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	6.1e-23	PFAM
Pfam:Tropomyosin	12	248	2.5e-93	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113693

SMART Domains

Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	6.1e-37	PFAM
Pfam:Tropomyosin	48	280	8.6e-93	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113695

SMART Domains

Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	6.1e-23	PFAM
Pfam:Tropomyosin	12	248	1.5e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113701

SMART Domains

Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	1.9e-31	PFAM
Pfam:Tropomyosin	48	284	1.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129733

SMART Domains

Protein: ENSMUSP00000138784
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	4e-36	PFAM
Pfam:Tropomyosin	48	128	7.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156899

Predicted Effect

probably null
Transcript: ENSMUST00000113705

SMART Domains

Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	1.9e-31	PFAM
Pfam:Tropomyosin	48	284	9.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139046

Predicted Effect

probably null
Transcript: ENSMUST00000113689

SMART Domains

Protein: ENSMUSP00000109319
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	3	117	1.4e-22	PFAM
Pfam:Tropomyosin	12	244	8.8e-88	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113690

SMART Domains

Protein: ENSMUSP00000109320
Gene: ENSMUSG00000032366

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	5.9e-23	PFAM
Pfam:Tropomyosin	12	244	8.3e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131279

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,827 (GRCm39)	V311A	probably benign	Het
Bdh1	T	C	16: 31,273,909 (GRCm39)	M194T	probably benign	Het
Dnmbp	T	C	19: 43,863,295 (GRCm39)	R808G	probably benign	Het
Esco2	T	C	14: 66,063,977 (GRCm39)	I402M	probably benign	Het
Gm5422	T	C	10: 31,125,897 (GRCm39)		noncoding transcript	Het
Il5ra	C	A	6: 106,708,794 (GRCm39)	M1I	probably null	Het
Kcnk4	T	A	19: 6,904,545 (GRCm39)	I240F	probably damaging	Het
Mast4	T	C	13: 102,897,523 (GRCm39)	E698G	probably damaging	Het
Mkln1	A	G	6: 31,405,063 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,963,538 (GRCm39)	G978R	probably damaging	Het
Or2m12	T	C	16: 19,105,410 (GRCm39)	T28A	probably benign	Het
Podn	T	A	4: 107,881,496 (GRCm39)	Y6F	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rad54l	T	C	4: 115,956,195 (GRCm39)	D544G	probably damaging	Het
Reck	C	A	4: 43,925,172 (GRCm39)	S470R	probably benign	Het
Sik3	A	G	9: 46,123,024 (GRCm39)	H891R	probably benign	Het
Tbata	C	T	10: 61,011,739 (GRCm39)	R92*	probably null	Het
Tdrd1	A	G	19: 56,822,841 (GRCm39)	N103S	probably damaging	Het
Timm21	A	G	18: 84,969,400 (GRCm39)	V8A	probably benign	Het
Tnn	A	G	1: 159,948,124 (GRCm39)	V863A	possibly damaging	Het
Togaram1	A	G	12: 65,029,436 (GRCm39)	D953G	possibly damaging	Het
Trgv4	A	G	13: 19,369,678 (GRCm39)		probably benign	Het
Vmn1r8	A	T	6: 57,013,272 (GRCm39)	N108Y	possibly damaging	Het
Vmn1r89	T	C	7: 12,953,432 (GRCm39)	M56T	probably benign	Het
Ythdc2	A	G	18: 45,020,718 (GRCm39)	E1434G	probably benign	Het

Other mutations in Tpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Tpm1	APN	9	66,943,337 (GRCm39)	missense	probably damaging	1.00
IGL01288:Tpm1	APN	9	66,943,337 (GRCm39)	missense	probably damaging	1.00
R1137:Tpm1	UTSW	9	66,938,400 (GRCm39)	splice site	probably null
R1554:Tpm1	UTSW	9	66,930,711 (GRCm39)	missense	probably benign	0.04
R2012:Tpm1	UTSW	9	66,941,247 (GRCm39)	nonsense	probably null
R2898:Tpm1	UTSW	9	66,938,322 (GRCm39)	missense	probably damaging	1.00
R3723:Tpm1	UTSW	9	66,939,227 (GRCm39)	intron	probably benign
R3724:Tpm1	UTSW	9	66,939,227 (GRCm39)	intron	probably benign
R4172:Tpm1	UTSW	9	66,930,649 (GRCm39)	missense	probably benign	0.34
R4427:Tpm1	UTSW	9	66,939,847 (GRCm39)	intron	probably benign
R4934:Tpm1	UTSW	9	66,935,331 (GRCm39)	splice site	probably null
R5605:Tpm1	UTSW	9	66,956,317 (GRCm39)	missense	probably damaging	0.99
R5726:Tpm1	UTSW	9	66,930,694 (GRCm39)	missense	probably damaging	0.97
R6556:Tpm1	UTSW	9	66,935,451 (GRCm39)	critical splice acceptor site	probably null
R6910:Tpm1	UTSW	9	66,939,256 (GRCm39)	missense	probably damaging	1.00
R7242:Tpm1	UTSW	9	66,935,383 (GRCm39)	missense	probably benign
R7386:Tpm1	UTSW	9	66,935,449 (GRCm39)	missense	probably benign
R8463:Tpm1	UTSW	9	66,955,512 (GRCm39)	missense	probably benign	0.01
R8755:Tpm1	UTSW	9	66,935,371 (GRCm39)	missense	probably benign	0.15
R9035:Tpm1	UTSW	9	66,955,138 (GRCm39)	missense	possibly damaging	0.53
R9294:Tpm1	UTSW	9	66,936,998 (GRCm39)	missense	probably benign

Posted On

2013-12-09