Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Twf1'

23994

Institutional Source

Beutler Lab

Gene Symbol

Twf1

Ensembl Gene

ENSMUSG00000022451

Gene Name

twinfilin actin binding protein 1

Synonyms

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

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

94475829-94487727 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 94478948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000023087

SMART Domains

Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451

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

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	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
IGL02732:Twf1	APN	15	94,478,890 (GRCm39)	missense	probably damaging	1.00
R0122:Twf1	UTSW	15	94,484,430 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GCTACCACGCACTTAGCGCATATC -3'
(R):5'- TTCTGTACAAGCATTCCCACGAAGG -3'

Sequencing Primer
(F):5'- GACTAAGTACTCTCCTGTGTGAGC -3'
(R):5'- TTCCCACGAAGGAGACTACTTAG -3'

Posted On

2013-04-16