Mutagenetix > Incidental Mutation

Incidental Mutation 'R4172:Tpm1'

318181

Institutional Source

Beutler Lab

Gene Symbol

Tpm1

Ensembl Gene

ENSMUSG00000032366

Gene Name

tropomyosin 1, alpha

Synonyms

TM2, Tpm-1, alpha-TM, Tm3

MMRRC Submission

044391-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66930649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 283 (N283D)

Ref Sequence

ENSEMBL: ENSMUSP00000109331 (fasta)

Gene Model

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

AlphaFold

P58771

Predicted Effect

probably benign
Transcript: ENSMUST00000034928
AA Change: N325D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
AA Change: N325D

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: 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: ENSMUST00000113697
AA Change: N283D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366
AA Change: N283D

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: ENSMUST00000113695
AA Change: N247D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366
AA Change: N247D

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: ENSMUST00000113696
AA Change: N247D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109326
Gene: ENSMUSG00000032366
AA Change: N247D

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: ENSMUST00000113701
AA Change: N283D

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366
AA Change: N283D

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: ENSMUST00000113705
AA Change: N283D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
AA Change: N283D

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
AA Change: N283D

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
AA Change: N283D

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: 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 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: 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: ENSMUST00000139046

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdc5l	A	G	17: 45,730,698 (GRCm39)	I196T	probably damaging	Het
Dnah7b	G	T	1: 46,266,106 (GRCm39)	R2225L	probably damaging	Het
Gfra2	C	A	14: 71,133,521 (GRCm39)	T117K	possibly damaging	Het
Gle1	T	C	2: 29,828,538 (GRCm39)	I120T	probably benign	Het
Guf1	T	A	5: 69,715,572 (GRCm39)	N52K	possibly damaging	Het
Helq	T	C	5: 100,919,713 (GRCm39)	K813E	probably benign	Het
Ighv7-4	A	T	12: 114,186,635 (GRCm39)	F46I	probably damaging	Het
Il6st	G	A	13: 112,631,861 (GRCm39)	D467N	probably benign	Het
Jak1	C	A	4: 101,016,329 (GRCm39)	V812L	probably benign	Het
Kank4	G	T	4: 98,667,358 (GRCm39)	T363K	probably damaging	Het
Lcat	C	A	8: 106,669,059 (GRCm39)	W72L	possibly damaging	Het
Map2	T	C	1: 66,452,759 (GRCm39)	S392P	possibly damaging	Het
Mtmr2	T	C	9: 13,711,358 (GRCm39)	F456L	probably damaging	Het
Myh8	A	T	11: 67,183,247 (GRCm39)	R709W	probably damaging	Het
Nop14	T	C	5: 34,807,951 (GRCm39)	N337S	probably damaging	Het
Npbwr1	A	G	1: 5,987,155 (GRCm39)	Y120H	probably damaging	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Oxsm	A	T	14: 16,242,079 (GRCm38)	V230E	probably damaging	Het
Paox	G	A	7: 139,713,941 (GRCm39)	G234R	probably damaging	Het
Polq	C	T	16: 36,881,120 (GRCm39)	H1095Y	probably benign	Het
Rad51c	T	C	11: 87,293,572 (GRCm39)	T77A	probably damaging	Het
Ryr3	C	A	2: 112,624,815 (GRCm39)	V2202F	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx27	T	C	3: 94,410,794 (GRCm39)	H452R	probably benign	Het
Son	C	T	16: 91,456,250 (GRCm39)	H1666Y	probably damaging	Het
Spata25	C	A	2: 164,669,408 (GRCm39)	W201L	possibly damaging	Het
Spint2	A	G	7: 28,963,097 (GRCm39)	V67A	probably damaging	Het
Srgap1	T	C	10: 121,691,268 (GRCm39)	Y322C	probably benign	Het
Synm	T	C	7: 67,385,109 (GRCm39)	Y409C	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Trpv6	T	C	6: 41,602,432 (GRCm39)	D318G	probably damaging	Het
Ube2j2	A	G	4: 156,033,543 (GRCm39)	D39G	probably damaging	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vwa5a	T	C	9: 38,635,166 (GRCm39)	F224L	probably damaging	Het
Zfp445	T	A	9: 122,681,002 (GRCm39)	M980L	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
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
R3723:Tpm1	UTSW	9	66,939,227 (GRCm39)	intron	probably benign
R3724:Tpm1	UTSW	9	66,939,227 (GRCm39)	intron	probably benign
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'- ATAACAAGTGCCCTGACTCGG -3'
(R):5'- TGTAGTGCCACTCATCTGTGTG -3'

Sequencing Primer
(F):5'- GACTCGGGCTTGCCTTTCTG -3'
(R):5'- ACTCATCTGTGTGTGACTGG -3'

Posted On

2015-06-10