Mutagenetix > Incidental Mutation

Incidental Mutation 'R3723:Tpm1'

270633

Institutional Source

Beutler Lab

Gene Symbol

Tpm1

Ensembl Gene

ENSMUSG00000032366

Gene Name

tropomyosin 1, alpha

Synonyms

TM2, Tpm-1, alpha-TM, Tm3

MMRRC Submission

040714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 66939227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138514 (fasta)

Gene Model

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

AlphaFold

P58771

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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: 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 benign
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

probably benign
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

noncoding transcript
Transcript: ENSMUST00000129466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131279

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

probably benign
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 benign
Transcript: ENSMUST00000139046

Predicted Effect

probably benign
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 benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,994,217 (GRCm39)	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,226,276 (GRCm39)	Y510C	probably damaging	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Apob	A	T	12: 8,056,327 (GRCm39)	Q1570L	probably damaging	Het
Apob	A	G	12: 8,061,763 (GRCm39)	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,214,772 (GRCm39)	I361F	probably damaging	Het
C9	G	A	15: 6,512,561 (GRCm39)	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,304,731 (GRCm39)		probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ckap4	A	G	10: 84,364,256 (GRCm39)	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,486,505 (GRCm39)	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658 (GRCm39)	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,221,412 (GRCm39)		probably benign	Het
Glis3	A	T	19: 28,239,991 (GRCm39)	C97*	probably null	Het
Gm14221	C	G	2: 160,410,347 (GRCm39)		noncoding transcript	Het
Gm8603	A	C	17: 13,737,075 (GRCm39)		probably null	Het
Gm9767	G	T	10: 25,954,469 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,807,102 (GRCm39)	F78L	probably damaging	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mipol1	C	A	12: 57,503,878 (GRCm39)	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,374 (GRCm39)	V1527A	probably damaging	Het
Naip5	G	T	13: 100,359,522 (GRCm39)	Y571*	probably null	Het
Npl	A	G	1: 153,391,210 (GRCm39)	F182L	probably benign	Het
Pan3	T	A	5: 147,440,018 (GRCm39)		probably benign	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,796,045 (GRCm39)	T350A	possibly damaging	Het
Pramel28	T	C	4: 143,693,251 (GRCm39)	T76A	probably benign	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rere	A	G	4: 150,553,252 (GRCm39)	E148G	probably damaging	Het
Scube2	T	C	7: 109,407,613 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,087,335 (GRCm39)	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Supt3	A	G	17: 45,305,274 (GRCm39)	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,545 (GRCm39)	I236V	possibly damaging	Het
Tns1	T	C	1: 73,964,099 (GRCm39)	S1511G	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,617,380 (GRCm39)	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,305,540 (GRCm39)		probably null	Het
Zfp30	A	G	7: 29,492,778 (GRCm39)	E344G	probably damaging	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
IGL01569:Tpm1	APN	9	66,938,390 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTATCCACTTGGCACTTTG -3'
(R):5'- GGCTCTAGGACTCCGTTTTC -3'

Sequencing Primer
(F):5'- TTACCCAACCTAAGATACATTCTCTG -3'
(R):5'- CACATTAGCAAATGTGCCG -3'

Posted On

2015-03-18