Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02732:Twf1'

305512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Twf1

Ensembl Gene

ENSMUSG00000022451

Gene Name

twinfilin actin binding protein 1

Synonyms

twinfilin, actin monomer-binding protein, Twinfilin-1, Ptk9, A6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

94475829-94487727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94478890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 273 (S273P)

Ref Sequence

ENSEMBL: ENSMUSP00000023087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023087] [ENSMUST00000109248] [ENSMUST00000152590]

AlphaFold

Q91YR1

PDB Structure

CRYSTAL STRUCTURE OF THE N-TERMINAL ADF-H DOMAIN OF MOUSE TWINFILIN ISOFORM-1 [X-RAY DIFFRACTION]
Solution structure of the second tandem cofilin-domain of mouse twinfilin [SOLUTION NMR]
Solution structure of C-teminal domain of twinfilin-1. [SOLUTION NMR]
Structure of the actin-depolymerizing factor homology domain in complex with actin [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023087
AA Change: S273P

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

SMART Domains

Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: S273P

Domain	Start	End	E-Value	Type
ADF	11	139	4.74e-35	SMART
ADF	184	313	6.22e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109248

SMART Domains

Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883

Domain	Start	End	E-Value	Type
Pfam:Death	20	101	1.6e-6	PFAM
Pfam:Pkinase_Tyr	187	452	1.9e-51	PFAM
Pfam:Pkinase	188	452	1.3e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127347

Predicted Effect

probably benign
Transcript: ENSMUST00000152590

SMART Domains

Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451

Domain	Start	End	E-Value	Type
ADF	1	113	1.9e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155654

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	C	A	13: 107,551,123 (GRCm39)		noncoding transcript	Het
Ash1l	T	A	3: 88,873,535 (GRCm39)	V106E	probably damaging	Het
Baz2a	A	G	10: 127,961,044 (GRCm39)	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,383,045 (GRCm39)	S1732P	probably benign	Het
Cdh1	T	A	8: 107,392,955 (GRCm39)	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,184,902 (GRCm39)	R1183*	probably null	Het
Cep170	C	T	1: 176,564,440 (GRCm39)	E1479K	probably damaging	Het
Cep68	A	T	11: 20,186,109 (GRCm39)		probably benign	Het
Cog7	C	T	7: 121,522,590 (GRCm39)	V750I	probably benign	Het
Cplane1	A	G	15: 8,209,375 (GRCm39)	T271A	probably benign	Het
Cyb5d1	A	C	11: 69,284,635 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,591,243 (GRCm39)	K120E	probably benign	Het
Dmtf1	T	C	5: 9,186,098 (GRCm39)	I75V	possibly damaging	Het
Fnip2	T	C	3: 79,373,004 (GRCm39)	T995A	probably damaging	Het
Hecw2	G	A	1: 53,965,847 (GRCm39)		probably benign	Het
Il17rd	T	A	14: 26,809,376 (GRCm39)	F111I	probably damaging	Het
Itgb8	A	C	12: 119,127,088 (GRCm39)	M722R	probably benign	Het
Maip1	A	G	1: 57,449,114 (GRCm39)	D165G	probably damaging	Het
Mcm6	A	T	1: 128,287,227 (GRCm39)	C26S	probably benign	Het
Mdp1	T	C	14: 55,896,678 (GRCm39)	I128V	possibly damaging	Het
Myof	A	T	19: 37,966,164 (GRCm39)	F385L	possibly damaging	Het
Nebl	C	T	2: 17,457,295 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,466,061 (GRCm39)	E227G	probably damaging	Het
Or4b13	A	G	2: 90,082,652 (GRCm39)	S227P	probably damaging	Het
Or51m1	T	G	7: 103,578,336 (GRCm39)	M102R	probably damaging	Het
Or52e3	A	C	7: 102,869,447 (GRCm39)	N174T	probably benign	Het
Pamr1	A	T	2: 102,472,486 (GRCm39)	H595L	probably benign	Het
Pate5	C	T	9: 35,750,345 (GRCm39)	G109D	probably damaging	Het
Pdgfc	G	A	3: 80,944,864 (GRCm39)		probably benign	Het
Pierce1	T	C	2: 28,355,192 (GRCm39)	N91S	probably damaging	Het
Ptpn22	A	T	3: 103,793,349 (GRCm39)	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617 (GRCm38)		probably null	Het
R3hdm2	T	C	10: 127,319,929 (GRCm39)	F513L	probably benign	Het
Ramac	T	C	7: 81,417,473 (GRCm39)		probably null	Het
Rhobtb3	C	A	13: 76,059,056 (GRCm39)	L247F	probably damaging	Het
Scfd1	T	C	12: 51,469,756 (GRCm39)	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,010,526 (GRCm39)		probably null	Het
Sin3b	T	C	8: 73,460,081 (GRCm39)	F223L	possibly damaging	Het
Slc9c1	T	C	16: 45,370,548 (GRCm39)	V263A	possibly damaging	Het
Sntb1	A	G	15: 55,655,596 (GRCm39)	S207P	possibly damaging	Het
Sqor	A	T	2: 122,641,682 (GRCm39)	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssh2	A	G	11: 77,328,602 (GRCm39)		probably null	Het
Tasor2	A	G	13: 3,623,626 (GRCm39)	V2108A	probably benign	Het
Tmod2	A	G	9: 75,493,454 (GRCm39)	V167A	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Trdn	G	A	10: 33,344,195 (GRCm39)		probably null	Het
Trim5	T	A	7: 103,927,672 (GRCm39)	E156V	probably benign	Het
Xylt1	T	C	7: 117,191,164 (GRCm39)	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Twf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Twf1	APN	15	94,478,817 (GRCm39)	unclassified	probably benign
R0122:Twf1	UTSW	15	94,484,430 (GRCm39)	splice site	probably benign
R0184:Twf1	UTSW	15	94,478,948 (GRCm39)	critical splice acceptor site	probably null
R0507:Twf1	UTSW	15	94,483,411 (GRCm39)	missense	probably damaging	1.00
R0742:Twf1	UTSW	15	94,483,411 (GRCm39)	missense	probably damaging	1.00
R1200:Twf1	UTSW	15	94,484,239 (GRCm39)	missense	probably benign	0.05
R1858:Twf1	UTSW	15	94,483,428 (GRCm39)	splice site	probably benign
R2005:Twf1	UTSW	15	94,483,328 (GRCm39)	critical splice donor site	probably null
R2290:Twf1	UTSW	15	94,484,400 (GRCm39)	missense	probably damaging	0.98
R3732:Twf1	UTSW	15	94,482,295 (GRCm39)	unclassified	probably benign
R4787:Twf1	UTSW	15	94,482,315 (GRCm39)	missense	probably damaging	1.00
R7782:Twf1	UTSW	15	94,480,654 (GRCm39)	missense	probably benign	0.05
R7893:Twf1	UTSW	15	94,482,327 (GRCm39)	missense	probably benign	0.00
R8177:Twf1	UTSW	15	94,482,276 (GRCm39)	missense	possibly damaging	0.75
R8415:Twf1	UTSW	15	94,477,702 (GRCm39)	makesense	probably null
R8729:Twf1	UTSW	15	94,479,212 (GRCm39)	missense	probably benign
R8768:Twf1	UTSW	15	94,479,110 (GRCm39)	missense	probably damaging	1.00
R8803:Twf1	UTSW	15	94,479,136 (GRCm39)	missense	probably damaging	1.00
R9150:Twf1	UTSW	15	94,484,274 (GRCm39)	missense	probably damaging	1.00
R9378:Twf1	UTSW	15	94,483,336 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16