Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Twf2'

22190

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

038424-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106080307-106092586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106090155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 136 (V136M)

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: V168M

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: V168M

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: V166M

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: V166M

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

possibly damaging
Transcript: ENSMUST00000216348
AA Change: V136M

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216541

Predicted Effect

unknown
Transcript: ENSMUST00000216850
AA Change: V98M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217523

Meta Mutation Damage Score

0.1260

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	probably damaging	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
R1432:Twf2	UTSW	9	106,092,012 (GRCm39)	unclassified	probably benign
R4579:Twf2	UTSW	9	106,090,025 (GRCm39)	missense	probably benign	0.20
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'- GTACCAGAAGCACCTGTCATCGTG -3'
(R):5'- AATGTGGATTAGCAGAACAGCCCAG -3'

Sequencing Primer
(F):5'- ACCTGTCATCGTGTGCCG -3'
(R):5'- GATAGGACTCTGTGCCCACTTG -3'

Posted On

2013-04-16