Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Twf1'

634443

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

067602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94475829-94487727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94482276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 157 (I157V)

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

possibly damaging
Transcript: ENSMUST00000023087
AA Change: I157V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: I157V

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

probably benign
Transcript: ENSMUST00000152590

SMART Domains

Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,439,174 (GRCm39)	Y127*	probably null	Het
Abcb5	C	T	12: 118,836,525 (GRCm39)	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,795,519 (GRCm39)	D425G	probably damaging	Het
Adamts15	T	A	9: 30,833,322 (GRCm39)	D71V	probably damaging	Het
Add1	A	G	5: 34,774,049 (GRCm39)	H435R	possibly damaging	Het
Akr1c19	A	G	13: 4,292,591 (GRCm39)	N204S	probably benign	Het
Ankub1	C	A	3: 57,597,837 (GRCm39)	R44S	possibly damaging	Het
Ano3	T	A	2: 110,496,801 (GRCm39)	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,425,359 (GRCm39)	M138V	probably benign	Het
Ccdc18	G	A	5: 108,345,661 (GRCm39)	E936K	possibly damaging	Het
Cit	T	G	5: 116,126,218 (GRCm39)	L1604V	probably benign	Het
Col2a1	T	A	15: 97,874,654 (GRCm39)	S1396C	unknown	Het
Col3a1	G	C	1: 45,374,924 (GRCm39)	G653R	unknown	Het
Col6a1	T	C	10: 76,560,863 (GRCm39)	E45G	probably damaging	Het
Col9a3	T	A	2: 180,249,450 (GRCm39)	F271I	probably damaging	Het
Cyp2g1	C	A	7: 26,518,578 (GRCm39)	D364E	probably damaging	Het
Dmbt1	T	A	7: 130,708,162 (GRCm39)	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,019,753 (GRCm39)	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 27,882,601 (GRCm39)	M222K	possibly damaging	Het
Epha8	T	C	4: 136,672,974 (GRCm39)	D270G	probably benign	Het
Fbxw17	T	C	13: 50,579,660 (GRCm39)	L159P	probably damaging	Het
Fgl2	G	A	5: 21,578,307 (GRCm39)		probably null	Het
Fmnl1	A	T	11: 103,080,785 (GRCm39)	M309L	probably damaging	Het
Fn1	T	C	1: 71,648,746 (GRCm39)	I1479V	probably benign	Het
Gm11939	A	T	11: 99,450,124 (GRCm39)	S57T	possibly damaging	Het
Gm9195	C	T	14: 72,697,977 (GRCm39)	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,466,348 (GRCm39)	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,800,445 (GRCm39)	R81W	probably damaging	Het
Mapk3	T	A	7: 126,362,937 (GRCm39)	W230R	probably null	Het
Mplkip	A	G	13: 17,870,205 (GRCm39)	S46G	probably benign	Het
Mrs2	T	C	13: 25,188,961 (GRCm39)	T118A	probably benign	Het
Mst1r	T	A	9: 107,784,784 (GRCm39)	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,361,068 (GRCm39)	G1460R	probably damaging	Het
Myorg	G	T	4: 41,497,568 (GRCm39)	Y687*	probably null	Het
Naip1	T	C	13: 100,563,911 (GRCm39)	H418R	probably benign	Het
Ncapg	A	G	5: 45,851,095 (GRCm39)	T763A	probably benign	Het
Nr6a1	T	C	2: 38,619,510 (GRCm39)	I462V	probably benign	Het
Nudcd3	T	C	11: 6,143,460 (GRCm39)	D70G	possibly damaging	Het
Nup210	A	G	6: 90,991,470 (GRCm39)	S1858P	probably benign	Het
Or12e13	T	A	2: 87,663,512 (GRCm39)	I43N	probably benign	Het
Or5aq1	C	A	2: 86,966,294 (GRCm39)	V124L	possibly damaging	Het
Or6a2	G	C	7: 106,600,663 (GRCm39)	L135V	probably damaging	Het
Or6c205	A	G	10: 129,086,790 (GRCm39)	H129R	probably benign	Het
Or8k33	T	A	2: 86,383,623 (GRCm39)	I282F	noncoding transcript	Het
Pde4dip	T	C	3: 97,674,848 (GRCm39)	T23A	probably damaging	Het
Pex6	A	G	17: 47,024,988 (GRCm39)	Q347R	probably benign	Het
Rbm27	A	G	18: 42,457,175 (GRCm39)	K694R	probably damaging	Het
Rnf40	T	G	7: 127,195,322 (GRCm39)	D549E	probably benign	Het
Rpl22	A	G	4: 152,411,968 (GRCm39)	K15E	probably damaging	Het
Rsph6a	T	A	7: 18,808,164 (GRCm39)	D697E	unknown	Het
Sec23b	C	T	2: 144,427,543 (GRCm39)	P590L	probably benign	Het
Semp2l1	T	C	1: 32,585,457 (GRCm39)	E151G	probably benign	Het
Slc17a7	T	A	7: 44,824,356 (GRCm39)	M524K	probably benign	Het
Slc28a1	G	A	7: 80,814,164 (GRCm39)	D454N	probably benign	Het
Slc6a13	C	T	6: 121,301,987 (GRCm39)	R190*	probably null	Het
Slc7a9	G	A	7: 35,155,558 (GRCm39)	V257I	probably benign	Het
Slco1a6	T	A	6: 142,047,460 (GRCm39)	M377L	probably damaging	Het
Slit3	A	G	11: 35,469,919 (GRCm39)	E307G	probably damaging	Het
Smchd1	A	G	17: 71,697,448 (GRCm39)	M1164T	probably benign	Het
Stk4	T	C	2: 163,930,777 (GRCm39)	I126T	probably damaging	Het
Syndig1	A	T	2: 149,741,788 (GRCm39)	S125C	probably damaging	Het
Synm	T	C	7: 67,383,813 (GRCm39)	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,349,327 (GRCm39)	M73V	probably benign	Het
Tmprss9	A	G	10: 80,730,882 (GRCm39)	I803V	probably benign	Het
Tmx4	A	T	2: 134,485,822 (GRCm39)	V35E	probably damaging	Het
Topbp1	T	G	9: 103,197,740 (GRCm39)	S440A	probably benign	Het
Vmn1r205	T	C	13: 22,776,415 (GRCm39)	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,192,759 (GRCm39)	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,822,594 (GRCm39)	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,422 (GRCm39)	Y620*	probably null	Het
Zfp51	A	G	17: 21,684,129 (GRCm39)	D248G	probably benign	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
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
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'- CTTGCTTCTGAAAACACGTAAAGC -3'
(R):5'- GCAGTTGTTCTGAAGCCCTC -3'

Sequencing Primer
(F):5'- AGCACACAGATCAGTTTTTAACC -3'
(R):5'- GCGAGAGAGAAGCCTCCG -3'

Posted On

2020-07-13