Mutagenetix > Incidental Mutation

Incidental Mutation 'R5460:Actbl2'

432986

Institutional Source

Beutler Lab

Gene Symbol

Actbl2

Ensembl Gene

ENSMUSG00000055194

Gene Name

actin, beta-like 2

Synonyms

4732495G21Rik

MMRRC Submission

042849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R5460 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111391547-111394283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111392238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 191 (M191K)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054716]

AlphaFold

Q8BFZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000054716
AA Change: M191K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: M191K

Domain	Start	End	E-Value	Type
ACTIN	6	376	5.41e-229	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,230,342 (GRCm39)	N304S	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adamtsl2	T	A	2: 26,985,410 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,572,377 (GRCm39)	E4928G	possibly damaging	Het
Alms1	T	A	6: 85,673,713 (GRCm39)	C3103S	probably benign	Het
Appl2	T	A	10: 83,438,696 (GRCm39)	I578F	probably benign	Het
Atp10b	T	C	11: 43,121,282 (GRCm39)	S982P	probably benign	Het
Brd10	G	T	19: 29,732,250 (GRCm39)	P254Q	probably damaging	Het
Capn7	T	C	14: 31,090,160 (GRCm39)		probably null	Het
Cd200r3	A	G	16: 44,778,093 (GRCm39)	T166A	possibly damaging	Het
Dctn6	C	T	8: 34,572,135 (GRCm39)		probably null	Het
Duxf4	G	A	10: 58,071,717 (GRCm39)	H166Y	possibly damaging	Het
Fam114a1	T	A	5: 65,185,776 (GRCm39)	F366I	probably damaging	Het
Fam98b	A	T	2: 117,089,737 (GRCm39)	S85C	probably damaging	Het
Fat3	T	A	9: 15,830,463 (GRCm39)	N4344Y	probably damaging	Het
Fhl3	T	G	4: 124,599,796 (GRCm39)	C92W	probably damaging	Het
Flrt1	T	C	19: 7,073,105 (GRCm39)	T481A	probably damaging	Het
Gng2	G	T	14: 19,941,426 (GRCm39)	N5K	probably benign	Het
Iqcm	A	T	8: 76,441,417 (GRCm39)	D230V	probably benign	Het
Limk2	T	C	11: 3,302,332 (GRCm39)	I176V	probably benign	Het
Lrrk2	T	A	15: 91,698,847 (GRCm39)		probably null	Het
Maml1	T	C	11: 50,157,180 (GRCm39)	T332A	probably benign	Het
Matcap2	T	C	9: 22,351,216 (GRCm39)	F453L	probably benign	Het
Mbd1	T	C	18: 74,402,581 (GRCm39)	F28L	probably benign	Het
Morf4l1	G	A	9: 89,977,183 (GRCm39)	T246I	probably benign	Het
Mtres1	T	C	10: 43,408,861 (GRCm39)	K94R	probably benign	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Ndufaf1	T	G	2: 119,490,958 (GRCm39)	D34A	probably benign	Het
Or4a77	T	A	2: 89,487,414 (GRCm39)	I124F	probably damaging	Het
Or4c114	C	T	2: 88,905,208 (GRCm39)	V76I	probably benign	Het
Patl1	C	T	19: 11,913,082 (GRCm39)	R542C	possibly damaging	Het
Pcdha2	T	C	18: 37,072,474 (GRCm39)	V35A	probably damaging	Het
Phf11b	G	A	14: 59,568,713 (GRCm39)	P67S	probably benign	Het
Plxnd1	T	C	6: 115,934,609 (GRCm39)	I1775V	probably damaging	Het
Ryr1	T	A	7: 28,771,386 (GRCm39)	T2552S	probably damaging	Het
Scai	A	T	2: 38,973,585 (GRCm39)	L52H	probably damaging	Het
Scai	G	C	2: 38,973,586 (GRCm39)	L52V	probably damaging	Het
Stag1	A	T	9: 100,838,506 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,586,170 (GRCm39)	K349R	probably benign	Het
Tpbgl	T	C	7: 99,274,961 (GRCm39)	I299V	probably benign	Het
Ttc3	A	G	16: 94,258,241 (GRCm39)	T1325A	probably benign	Het
Ubxn11	A	T	4: 133,852,396 (GRCm39)	E210D	probably damaging	Het
Unc13c	T	C	9: 73,453,271 (GRCm39)	I1840V	probably benign	Het
Zfp74	A	T	7: 29,635,316 (GRCm39)	F131I	probably benign	Het

Other mutations in Actbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02065:Actbl2	APN	13	111,392,225 (GRCm39)	missense	probably benign	0.16
IGL02391:Actbl2	APN	13	111,391,701 (GRCm39)	missense	possibly damaging	0.61
IGL02966:Actbl2	APN	13	111,392,106 (GRCm39)	missense	probably damaging	1.00
IGL03160:Actbl2	APN	13	111,392,462 (GRCm39)	missense	probably benign	0.10
IGL03271:Actbl2	APN	13	111,392,408 (GRCm39)	missense	probably benign
IGL02802:Actbl2	UTSW	13	111,392,310 (GRCm39)	missense	probably damaging	1.00
R1500:Actbl2	UTSW	13	111,391,854 (GRCm39)	missense	probably damaging	1.00
R2119:Actbl2	UTSW	13	111,391,694 (GRCm39)	missense	probably benign	0.36
R2504:Actbl2	UTSW	13	111,392,717 (GRCm39)	missense	possibly damaging	0.83
R5029:Actbl2	UTSW	13	111,392,127 (GRCm39)	missense	probably benign	0.24
R6321:Actbl2	UTSW	13	111,391,915 (GRCm39)	missense	probably damaging	0.99
R6375:Actbl2	UTSW	13	111,392,478 (GRCm39)	missense	probably damaging	1.00
R7003:Actbl2	UTSW	13	111,392,490 (GRCm39)	missense	probably damaging	0.96
R7399:Actbl2	UTSW	13	111,392,127 (GRCm39)	missense	probably benign	0.24
R7407:Actbl2	UTSW	13	111,392,752 (GRCm39)	missense	probably damaging	1.00
R7482:Actbl2	UTSW	13	111,392,673 (GRCm39)	missense	probably damaging	0.99
R7568:Actbl2	UTSW	13	111,391,956 (GRCm39)	missense	possibly damaging	0.62
R7645:Actbl2	UTSW	13	111,392,789 (GRCm39)	missense	probably benign	0.31
R7784:Actbl2	UTSW	13	111,391,945 (GRCm39)	missense	probably damaging	0.98
R8882:Actbl2	UTSW	13	111,392,033 (GRCm39)	missense	probably benign
X0063:Actbl2	UTSW	13	111,391,859 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CCATGTATGTAGCAATCCAAGC -3'
(R):5'- GGCTGGAAAATGGCTTCTGG -3'

Sequencing Primer
(F):5'- GTATGTAGCAATCCAAGCCGTGC -3'
(R):5'- ACCGGAAGCGTTCATTTCCAATG -3'

Posted On

2016-10-06