Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01288:Tpm1'

278250

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 #

IGL01288

Quality Score

Status

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66943337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 105 (R105H)

Ref Sequence

ENSEMBL: ENSMUSP00000109323 (fasta)

Gene Model

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

AlphaFold

P58771

Predicted Effect

probably damaging
Transcript: ENSMUST00000030185
AA Change: R105H

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

SMART Domains

Protein: ENSMUSP00000030185
Gene: ENSMUSG00000032366
AA Change: R105H

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
AA Change: R147H

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
AA Change: R147H

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 damaging
Transcript: ENSMUST00000050905
AA Change: R105H

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

SMART Domains

Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366
AA Change: R105H

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
AA Change: R69H

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109314
Gene: ENSMUSG00000032366
AA Change: R69H

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

possibly damaging
Transcript: ENSMUST00000113685
AA Change: R105H

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366
AA Change: R105H

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: R69H

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

SMART Domains

Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366
AA Change: R69H

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: R105H

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

SMART Domains

Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366
AA Change: R105H

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

possibly damaging
Transcript: ENSMUST00000113696
AA Change: R69H

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109326
Gene: ENSMUSG00000032366
AA Change: R69H

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

possibly damaging
Transcript: ENSMUST00000113705
AA Change: R105H

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
AA Change: R105H

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

possibly damaging
Transcript: ENSMUST00000113695
AA Change: R69H

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366
AA Change: R69H

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

possibly damaging
Transcript: ENSMUST00000113697
AA Change: R105H

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366
AA Change: R105H

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

possibly damaging
Transcript: ENSMUST00000113707
AA Change: R105H

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
AA Change: R105H

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

possibly damaging
Transcript: ENSMUST00000113690
AA Change: R69H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109320
Gene: ENSMUSG00000032366
AA Change: R69H

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: ENSMUST00000129733
AA Change: R105H

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

SMART Domains

Protein: ENSMUSP00000138784
Gene: ENSMUSG00000032366
AA Change: R105H

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 damaging
Transcript: ENSMUST00000113701
AA Change: R105H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366
AA Change: R105H

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 damaging
Transcript: ENSMUST00000113693
AA Change: R105H

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

SMART Domains

Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366
AA Change: R105H

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 damaging
Transcript: ENSMUST00000113689
AA Change: R69H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109319
Gene: ENSMUSG00000032366
AA Change: R69H

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

noncoding transcript
Transcript: ENSMUST00000129466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156899

Predicted Effect

probably benign
Transcript: ENSMUST00000139046

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 123,507,381 (GRCm39)		probably benign	Het
Acsl3	G	T	1: 78,677,476 (GRCm39)	W490L	possibly damaging	Het
Ahnak	A	G	19: 8,979,858 (GRCm39)	I381V	possibly damaging	Het
Aox1	A	G	1: 58,333,566 (GRCm39)	Y261C	probably damaging	Het
Ap3m2	T	C	8: 23,293,931 (GRCm39)	T40A	probably benign	Het
Arfgef1	C	T	1: 10,283,436 (GRCm39)	A158T	possibly damaging	Het
Atp1a4	T	C	1: 172,085,474 (GRCm39)	E43G	possibly damaging	Het
Cog5	C	T	12: 31,936,205 (GRCm39)	T584I	probably benign	Het
Cpa1	G	A	6: 30,640,582 (GRCm39)	V75M	probably damaging	Het
Cul7	A	G	17: 46,968,733 (GRCm39)		probably benign	Het
Dennd2b	A	G	7: 109,139,029 (GRCm39)	I668T	probably damaging	Het
Dop1b	T	C	16: 93,536,181 (GRCm39)	I93T	possibly damaging	Het
Dyrk2	T	C	10: 118,696,604 (GRCm39)	Y218C	probably damaging	Het
Efr3b	T	C	12: 4,032,865 (GRCm39)	Y164C	probably damaging	Het
Etos1	C	A	7: 130,373,935 (GRCm39)		probably benign	Het
Fam13a	A	G	6: 58,933,712 (GRCm39)	Y293H	probably damaging	Het
Gde1	A	T	7: 118,290,863 (GRCm39)	V154D	possibly damaging	Het
Glyat	A	G	19: 12,627,719 (GRCm39)	T105A	possibly damaging	Het
Il36b	A	T	2: 24,049,925 (GRCm39)	I179L	probably benign	Het
Kif21b	C	T	1: 136,099,922 (GRCm39)	T1492M	probably benign	Het
Kmt2d	G	T	15: 98,762,925 (GRCm39)	P282T	probably damaging	Het
Lgi4	A	G	7: 30,768,468 (GRCm39)	E489G	probably benign	Het
Lipn	A	C	19: 34,056,435 (GRCm39)	E260D	probably benign	Het
Mdn1	A	G	4: 32,730,864 (GRCm39)	D2911G	probably benign	Het
Nab2	C	T	10: 127,500,978 (GRCm39)	R38Q	probably damaging	Het
Or1e35	A	T	11: 73,798,139 (GRCm39)	Y60N	probably damaging	Het
Or4c1	A	T	2: 89,133,816 (GRCm39)	V40E	possibly damaging	Het
Or4p22	T	A	2: 88,317,592 (GRCm39)	I172K	probably damaging	Het
Or52i2	A	G	7: 102,319,858 (GRCm39)	T244A	probably damaging	Het
Or5t16	C	A	2: 86,818,598 (GRCm39)	M307I	probably benign	Het
Or6f2	T	C	7: 139,756,528 (GRCm39)	L165P	probably damaging	Het
Osbpl6	T	C	2: 76,395,167 (GRCm39)	S337P	probably damaging	Het
Phf8	T	C	X: 150,330,921 (GRCm39)		probably null	Het
Pik3c2b	C	T	1: 133,022,543 (GRCm39)	H1162Y	probably damaging	Het
Plek2	T	C	12: 78,941,727 (GRCm39)	D134G	possibly damaging	Het
Rnf139	G	A	15: 58,771,028 (GRCm39)	R351H	probably damaging	Het
Shld2	A	T	14: 33,981,600 (GRCm39)	Y513N	probably benign	Het
Skint5	T	C	4: 113,381,332 (GRCm39)		probably benign	Het
Slc12a9	C	T	5: 137,329,200 (GRCm39)		probably null	Het
Stradb	C	A	1: 59,031,460 (GRCm39)	H216N	possibly damaging	Het
Tex15	C	T	8: 34,061,412 (GRCm39)	H281Y	probably benign	Het
Tg	G	T	15: 66,608,125 (GRCm39)	V237L	possibly damaging	Het
Tns1	T	A	1: 73,992,969 (GRCm39)	T570S	probably damaging	Het
Wdfy3	G	T	5: 102,049,857 (GRCm39)		probably null	Het
Zc3h12c	A	G	9: 52,028,951 (GRCm39)		probably benign	Het
Zmynd8	T	A	2: 165,654,734 (GRCm39)	S584C	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
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
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

2015-04-16