Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00815:Tpm4'

14554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpm4

Ensembl Gene

ENSMUSG00000031799

Gene Name

tropomyosin 4

Synonyms

2610528G24Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

IGL00815

Quality Score

Status

Chromosome

Chromosomal Location

72889132-72906986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72897347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 107 (I107T)

Ref Sequence

ENSEMBL: ENSMUSP00000003575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003575]

AlphaFold

Q6IRU2

Predicted Effect

probably benign
Transcript: ENSMUST00000003575
AA Change: I107T

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

SMART Domains

Protein: ENSMUSP00000003575
Gene: ENSMUSG00000031799
AA Change: I107T

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	1e-21	PFAM
Pfam:Tropomyosin	12	248	1.1e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181918

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 120,981,699 (GRCm39)		probably benign	Het
Arhgap20	A	G	9: 51,760,713 (GRCm39)	N819D	probably benign	Het
Cenpe	A	G	3: 134,965,112 (GRCm39)	I2061V	probably benign	Het
Chrna4	T	C	2: 180,671,184 (GRCm39)	I191V	probably benign	Het
Crim1	A	G	17: 78,677,520 (GRCm39)	E907G	probably damaging	Het
Cyp2d9	T	A	15: 82,340,576 (GRCm39)	D175E	possibly damaging	Het
Eml4	A	G	17: 83,758,219 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fam3c	A	T	6: 22,318,947 (GRCm39)	D151E	probably damaging	Het
Far1	G	A	7: 113,139,896 (GRCm39)	V115I	probably benign	Het
Gfap	T	C	11: 102,779,516 (GRCm39)	D427G	possibly damaging	Het
Hdac5	A	G	11: 102,088,168 (GRCm39)	F934S	probably damaging	Het
Hyou1	A	G	9: 44,296,443 (GRCm39)	E456G	probably benign	Het
Kl	G	A	5: 150,904,315 (GRCm39)	E356K	possibly damaging	Het
Morc1	T	C	16: 48,281,055 (GRCm39)	I198T	possibly damaging	Het
Mroh9	C	T	1: 162,866,700 (GRCm39)	V679M	probably damaging	Het
Pigr	T	A	1: 130,762,167 (GRCm39)	M1K	probably null	Het
Pkn3	C	A	2: 29,971,212 (GRCm39)	P260T	possibly damaging	Het
Pld5	T	G	1: 175,967,585 (GRCm39)	D28A	probably damaging	Het
Plekhg2	G	A	7: 28,060,294 (GRCm39)	Q1012*	probably null	Het
Ppp1ca	A	G	19: 4,243,143 (GRCm39)	I104V	probably benign	Het
Rad21l	A	G	2: 151,509,909 (GRCm39)	V64A	probably damaging	Het
Rbm20	A	G	19: 53,803,948 (GRCm39)	D427G	probably damaging	Het
Rev3l	A	G	10: 39,735,149 (GRCm39)	I2792V	possibly damaging	Het
Sec23a	C	T	12: 59,039,068 (GRCm39)	C248Y	possibly damaging	Het
Sf3b1	A	T	1: 55,036,090 (GRCm39)		probably benign	Het
Slc30a1	A	G	1: 191,641,191 (GRCm39)	N279S	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spic	T	C	10: 88,511,729 (GRCm39)	N176D	probably damaging	Het
Tlk2	C	T	11: 105,137,621 (GRCm39)	Q184*	probably null	Het
Ttll11	A	T	2: 35,792,732 (GRCm39)	C186*	probably null	Het
Txlnb	A	T	10: 17,718,711 (GRCm39)	H514L	probably damaging	Het
Zfpm2	T	A	15: 40,962,887 (GRCm39)	M183K	probably benign	Het

Other mutations in Tpm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02546:Tpm4	APN	8	72,898,547 (GRCm39)	missense	probably damaging	1.00
R1720:Tpm4	UTSW	8	72,898,598 (GRCm39)	splice site	probably null
R5011:Tpm4	UTSW	8	72,900,938 (GRCm39)	missense	probably benign	0.03
R7319:Tpm4	UTSW	8	72,900,321 (GRCm39)	missense	probably damaging	1.00
R9119:Tpm4	UTSW	8	72,892,525 (GRCm39)	missense	probably benign	0.00
R9792:Tpm4	UTSW	8	72,905,663 (GRCm39)	missense	probably benign

Posted On

2012-12-06