Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01135:Twf2'

51986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Twf2

Ensembl Gene

ENSMUSG00000023277

Gene Name

twinfilin actin binding protein 2

Synonyms

Ptk9l, Twinfilin-2, Twf2, A6-related

Accession Numbers

Genbank: NM_011876

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

106203108-106215389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106212828 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 127 (I127V)

Ref Sequence

ENSEMBL: ENSMUSP00000150626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024047] [ENSMUST00000187647] [ENSMUST00000187944] [ENSMUST00000188650] [ENSMUST00000216348]

Predicted Effect

probably benign
Transcript: ENSMUST00000024047
AA Change: I159V

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

SMART Domains

Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: I159V

Domain	Start	End	E-Value	Type
ADF	11	139	4.24e-23	SMART
ADF	184	313	1.51e-19	SMART
low complexity region	325	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187647

SMART Domains

Protein: ENSMUSP00000140617
Gene: ENSMUSG00000023277

Domain	Start	End	E-Value	Type
SCOP:d1f7sa_	5	34	5e-4	SMART
PDB:2VAC\|A	6	44	1e-12	PDB
Blast:ADF	11	48	6e-8	BLAST
low complexity region	56	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187944

Predicted Effect

probably benign
Transcript: ENSMUST00000188650
AA Change: I157V

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

SMART Domains

Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: I157V

Domain	Start	End	E-Value	Type
ADF	9	137	4.24e-23	SMART
ADF	182	311	1.51e-19	SMART
low complexity region	323	335	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189708

Predicted Effect

probably benign
Transcript: ENSMUST00000216348
AA Change: I127V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216541

Predicted Effect

probably benign
Transcript: ENSMUST00000216850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217523

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele are viable, fertile, and do not display obvious morphological or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(33) : Gene trapped(33)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Twf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Twf2	APN	9	106212756	nonsense	probably null
G5030:Twf2	UTSW	9	106206942	missense	possibly damaging	0.66
R0139:Twf2	UTSW	9	106212956	missense	possibly damaging	0.69
R1432:Twf2	UTSW	9	106214813	unclassified	probably benign
R4579:Twf2	UTSW	9	106212826	missense	probably benign	0.20
R4969:Twf2	UTSW	9	106211899	critical splice donor site	probably null
R4975:Twf2	UTSW	9	106212340	missense	probably damaging	1.00
R5831:Twf2	UTSW	9	106214187	missense	probably benign	0.00
R6368:Twf2	UTSW	9	106212833	missense	probably benign	0.33
R7026:Twf2	UTSW	9	106214880	missense	probably damaging	1.00
R7338:Twf2	UTSW	9	106203939	intron	probably benign
R7439:Twf2	UTSW	9	106214398	missense	probably damaging	1.00
R7793:Twf2	UTSW	9	106211880	missense	probably damaging	1.00
X0024:Twf2	UTSW	9	106212969	missense	probably benign
Z1177:Twf2	UTSW	9	106213004	missense	probably benign	0.09

Posted On

2013-06-21