Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Tpm1'

538977

Institutional Source

Beutler Lab

Gene Symbol

Tpm1

Ensembl Gene

ENSMUSG00000032366

Gene Name

tropomyosin 1, alpha

Synonyms

TM2, Tpm-1, alpha-TM, Tm3

MMRRC Submission

045002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66939256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 170 (S170P)

Ref Sequence

ENSEMBL: ENSMUSP00000109316 (fasta)

Gene Model

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

AlphaFold

P58771

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030185
AA Change: S206P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030185
Gene: ENSMUSG00000032366
AA Change: S206P

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

possibly damaging
Transcript: ENSMUST00000034928
AA Change: S248P

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
AA Change: S248P

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
AA Change: S206P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366
AA Change: S206P

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 damaging
Transcript: ENSMUST00000113686
AA Change: S170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366
AA Change: S170P

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 damaging
Transcript: ENSMUST00000113687
AA Change: S206P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366
AA Change: S206P

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: ENSMUST00000113705
AA Change: S206P

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
AA Change: S206P

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: 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 damaging
Transcript: ENSMUST00000113690
AA Change: S170P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109320
Gene: ENSMUSG00000032366
AA Change: S170P

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 damaging
Transcript: ENSMUST00000113693
AA Change: S206P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366
AA Change: S206P

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

possibly damaging
Transcript: ENSMUST00000113695
AA Change: S170P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366
AA Change: S170P

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

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: 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: 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: ENSMUST00000113707
AA Change: S206P

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
AA Change: S206P

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: 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: ENSMUST00000139046

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

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
Cfap54	A	G	10: 92,672,374 (GRCm39)	S2899P	probably benign	Het
Chil5	A	G	3: 105,926,977 (GRCm39)	W82R	probably damaging	Het
Dennd3	A	G	15: 73,426,965 (GRCm39)	T781A	probably benign	Het
Epha2	A	G	4: 141,048,824 (GRCm39)	D597G	probably damaging	Het
Gcn1	A	G	5: 115,744,597 (GRCm39)	T1598A	probably benign	Het
Glp2r	A	G	11: 67,621,497 (GRCm39)	F162S	probably benign	Het
Gm17655	T	A	5: 110,195,039 (GRCm39)	R248*	probably null	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Hapln2	A	G	3: 87,931,135 (GRCm39)	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,909,875 (GRCm39)	T463K	probably damaging	Het
Ift80	A	C	3: 68,835,068 (GRCm39)	S458A	probably benign	Het
Lama1	A	G	17: 68,098,459 (GRCm39)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm39)	I171T	probably benign	Het
Micu1	A	G	10: 59,576,489 (GRCm39)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,532,080 (GRCm39)	V9A	unknown	Het
Ncoa7	T	G	10: 30,570,117 (GRCm39)	I281L	possibly damaging	Het
Nms	A	G	1: 38,980,976 (GRCm39)	E54G	probably benign	Het
Nrip1	G	A	16: 76,091,305 (GRCm39)	A84V	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or11g27	G	A	14: 50,771,330 (GRCm39)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,881,285 (GRCm39)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,935,024 (GRCm39)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	C	2: 112,788,520 (GRCm39)	D170G	probably damaging	Het
Sanbr	A	G	11: 23,570,447 (GRCm39)	V151A	probably damaging	Het
Scp2	C	A	4: 107,962,283 (GRCm39)	G81C	probably damaging	Het
Sez6	A	G	11: 77,844,695 (GRCm39)	T173A	possibly damaging	Het
Syne1	T	C	10: 4,998,887 (GRCm39)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,772,272 (GRCm39)	T520A	probably damaging	Het
Try5	T	C	6: 41,288,733 (GRCm39)	D54G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,673,475 (GRCm39)	F178L	probably benign	Het
Zan	T	C	5: 137,417,342 (GRCm39)	E3041G	unknown	Het
Zfp1001	A	T	2: 150,165,987 (GRCm39)	Q56L	probably benign	Het
Zfp616	A	T	11: 73,975,828 (GRCm39)	H699L	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
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
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'- AAGCAAGCTCTTCCTCCCTG -3'

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

Posted On

2018-11-06