Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Twf2'

343515

Institutional Source

Beutler Lab

Gene Symbol

Twf2

Ensembl Gene

ENSMUSG00000023277

Gene Name

twinfilin actin binding protein 2

Synonyms

Ptk9l, Twinfilin-2, A6-related, Twf2

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106080307-106092586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106090025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 126 (R126Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150626 (fasta)

Gene Model

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

AlphaFold

Q9Z0P5

Predicted Effect

probably benign
Transcript: ENSMUST00000024047
AA Change: R158Q

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: R158Q

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: R156Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: R156Q

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: R126Q

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217523

Predicted Effect

probably benign
Transcript: ENSMUST00000216850

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Acox3	A	G	5: 35,761,987 (GRCm39)	N444D	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fancl	G	T	11: 26,418,423 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
Gnpat	T	A	8: 125,605,241 (GRCm39)		probably null	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc38a6	G	T	12: 73,335,298 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het
Zfp788	T	G	7: 41,297,018 (GRCm39)	I56S	probably benign	Het

Other mutations in Twf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Twf2	APN	9	106,090,027 (GRCm39)	missense	probably benign	0.01
IGL02616:Twf2	APN	9	106,089,955 (GRCm39)	nonsense	probably null
G5030:Twf2	UTSW	9	106,084,141 (GRCm39)	missense	possibly damaging	0.66
R0139:Twf2	UTSW	9	106,090,155 (GRCm39)	missense	possibly damaging	0.69
R1432:Twf2	UTSW	9	106,092,012 (GRCm39)	unclassified	probably benign
R4969:Twf2	UTSW	9	106,089,098 (GRCm39)	critical splice donor site	probably null
R4975:Twf2	UTSW	9	106,089,539 (GRCm39)	missense	probably damaging	1.00
R5831:Twf2	UTSW	9	106,091,386 (GRCm39)	missense	probably benign	0.00
R6368:Twf2	UTSW	9	106,090,032 (GRCm39)	missense	probably benign	0.33
R7026:Twf2	UTSW	9	106,092,079 (GRCm39)	missense	probably damaging	1.00
R7338:Twf2	UTSW	9	106,081,138 (GRCm39)	intron	probably benign
R7439:Twf2	UTSW	9	106,091,597 (GRCm39)	missense	probably damaging	1.00
R7793:Twf2	UTSW	9	106,089,079 (GRCm39)	missense	probably damaging	1.00
R8743:Twf2	UTSW	9	106,090,010 (GRCm39)	missense	possibly damaging	0.77
R9252:Twf2	UTSW	9	106,088,999 (GRCm39)	missense	probably benign	0.01
R9357:Twf2	UTSW	9	106,092,100 (GRCm39)	missense	probably benign	0.06
X0024:Twf2	UTSW	9	106,090,168 (GRCm39)	missense	probably benign
Z1177:Twf2	UTSW	9	106,090,203 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGAGATGCACAGCAGGCTTC -3'
(R):5'- TACCCACCAGCTGGATATAGTTG -3'

Sequencing Primer
(F):5'- GGCTTCTGTCTGCCCGC -3'
(R):5'- ACCAGCTGGATATAGTTGACCGTC -3'

Posted On

2015-09-24