Mutagenetix > Incidental Mutation

Incidental Mutation 'R5487:Mical2'

430415

Institutional Source

Beutler Lab

Gene Symbol

Mical2

Ensembl Gene

ENSMUSG00000038244

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 2

Synonyms

4921517J23Rik, Ebitein1, 5330438E18Rik, Micalcl

MMRRC Submission

043048-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R5487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111919842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 451 (T451A)

Ref Sequence

ENSEMBL: ENSMUSP00000051163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037991] [ENSMUST00000050149]

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037991
AA Change: T451A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: T451A

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	86	143	1e-8	PFAM
Pfam:FAD_binding_2	88	127	3.2e-6	PFAM
low complexity region	175	188	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
CH	518	617	4.14e-17	SMART
low complexity region	691	700	N/A	INTRINSIC
low complexity region	894	925	N/A	INTRINSIC
LIM	979	1033	9.91e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050149
AA Change: T451A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: T451A

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	86	143	1.1e-8	PFAM
Pfam:FAD_binding_2	88	127	1.5e-6	PFAM
Pfam:Pyr_redox_2	88	259	1.3e-6	PFAM
low complexity region	500	515	N/A	INTRINSIC
CH	518	617	4.14e-17	SMART
low complexity region	691	700	N/A	INTRINSIC
LIM	752	806	9.91e-10	SMART
low complexity region	918	926	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106648

SMART Domains

Protein: ENSMUSP00000102259
Gene: ENSMUSG00000038244

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	86	143	9.5e-9	PFAM
Pfam:FAD_binding_2	88	127	1.3e-6	PFAM
Pfam:Pyr_redox_2	88	263	1e-6	PFAM
low complexity region	500	515	N/A	INTRINSIC
CH	518	617	4.14e-17	SMART
low complexity region	691	700	N/A	INTRINSIC
LIM	752	806	1.71e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150428

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,844,340 (GRCm39)	V959A	probably damaging	Het
Alg3	A	T	16: 20,426,530 (GRCm39)	I115N	probably damaging	Het
Ash1l	A	G	3: 88,888,733 (GRCm39)	D204G	probably benign	Het
Camta1	C	A	4: 151,229,211 (GRCm39)	E540D	possibly damaging	Het
Cblc	T	C	7: 19,518,733 (GRCm39)	T413A	probably benign	Het
Ccdc122	T	A	14: 77,329,119 (GRCm39)	H57Q	probably benign	Het
Ccdc85a	A	T	11: 28,526,768 (GRCm39)	L280*	probably null	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,864 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ecpas	T	C	4: 58,809,421 (GRCm39)	D1651G	probably benign	Het
Eif2ak1	A	G	5: 143,833,981 (GRCm39)		probably null	Het
Erich4	A	G	7: 25,314,664 (GRCm39)	M83T	probably benign	Het
Fbxo24	C	T	5: 137,617,094 (GRCm39)	G331E	possibly damaging	Het
Fzd4	A	G	7: 89,056,615 (GRCm39)	I221V	probably benign	Het
G6pc2	T	C	2: 69,056,921 (GRCm39)	V189A	probably damaging	Het
Gm10663	A	C	8: 65,527,686 (GRCm39)	E1A	probably null	Het
Gm4871	C	A	5: 144,967,199 (GRCm39)	E178D	probably damaging	Het
Igdcc3	A	G	9: 65,088,866 (GRCm39)	E415G	probably damaging	Het
Kmt2a	A	T	9: 44,733,272 (GRCm39)		probably benign	Het
Krba1	T	C	6: 48,380,973 (GRCm39)	V103A	probably damaging	Het
Lcat	T	C	8: 106,666,296 (GRCm39)	K409E	probably benign	Het
Lrriq4	C	A	3: 30,714,144 (GRCm39)	N497K	probably benign	Het
Noxo1	C	T	17: 24,917,291 (GRCm39)		probably benign	Het
Oas1a	A	G	5: 121,045,490 (GRCm39)	I17T	probably damaging	Het
Otog	A	T	7: 45,938,192 (GRCm39)	Y1967F	probably benign	Het
Pcdha9	A	T	18: 37,132,703 (GRCm39)	N591Y	probably damaging	Het
Plxna4	A	G	6: 32,494,218 (GRCm39)	Y133H	probably damaging	Het
Pou5f2	T	C	13: 78,173,118 (GRCm39)	L20P	probably benign	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Sema3b	A	T	9: 107,478,161 (GRCm39)	M408K	probably damaging	Het
Serpinf2	G	A	11: 75,324,031 (GRCm39)	T332I	probably damaging	Het
Tmbim1	A	G	1: 74,332,164 (GRCm39)	V121A	probably benign	Het
Tph2	C	T	10: 114,955,779 (GRCm39)	G338D	probably damaging	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,642,896 (GRCm39)	V13247M	probably damaging	Het
Uty	C	T	Y: 1,174,825 (GRCm39)	G192R	probably damaging	Het
Vmn2r65	G	T	7: 84,595,529 (GRCm39)	P385Q	possibly damaging	Het
Wdfy3	G	A	5: 101,984,140 (GRCm39)	R3489W	probably damaging	Het
Zfp750	A	G	11: 121,404,558 (GRCm39)	S106P	probably benign	Het

Other mutations in Mical2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Mical2	APN	7	111,981,352 (GRCm39)	missense	possibly damaging	0.94
IGL00886:Mical2	APN	7	111,914,279 (GRCm39)	missense	probably benign	0.00
IGL00934:Mical2	APN	7	111,948,610 (GRCm39)	missense	probably damaging	1.00
IGL00941:Mical2	APN	7	111,920,652 (GRCm39)	splice site	probably benign
IGL01020:Mical2	APN	7	111,914,283 (GRCm39)	splice site	probably benign
IGL01395:Mical2	APN	7	111,922,792 (GRCm39)	missense	probably damaging	1.00
IGL01658:Mical2	APN	7	111,914,205 (GRCm39)	missense	probably damaging	1.00
IGL01775:Mical2	APN	7	111,981,269 (GRCm39)	missense	possibly damaging	0.89
IGL02040:Mical2	APN	7	111,910,613 (GRCm39)	missense	probably damaging	1.00
IGL02051:Mical2	APN	7	111,980,597 (GRCm39)	missense	probably benign	0.30
IGL02388:Mical2	APN	7	111,934,620 (GRCm39)	missense	probably benign
IGL02551:Mical2	APN	7	111,923,197 (GRCm39)	missense	probably benign	0.01
IGL02578:Mical2	APN	7	111,950,580 (GRCm39)	missense	probably benign	0.05
IGL02751:Mical2	APN	7	111,931,243 (GRCm39)	missense	probably benign	0.11
IGL03114:Mical2	APN	7	111,996,764 (GRCm39)	missense	probably damaging	1.00
R0091:Mical2	UTSW	7	111,980,503 (GRCm39)	missense	probably benign	0.05
R0101:Mical2	UTSW	7	111,936,074 (GRCm39)	missense	possibly damaging	0.86
R0415:Mical2	UTSW	7	111,980,235 (GRCm39)	missense	probably damaging	1.00
R0504:Mical2	UTSW	7	111,870,524 (GRCm39)	missense	probably benign	0.00
R0594:Mical2	UTSW	7	111,917,657 (GRCm39)	missense	probably damaging	0.97
R0609:Mical2	UTSW	7	111,920,647 (GRCm39)	splice site	probably null
R0962:Mical2	UTSW	7	111,979,624 (GRCm39)	missense	probably damaging	0.99
R1521:Mical2	UTSW	7	111,980,817 (GRCm39)	missense	probably damaging	1.00
R1542:Mical2	UTSW	7	111,908,675 (GRCm39)	missense	probably damaging	1.00
R1611:Mical2	UTSW	7	111,980,671 (GRCm39)	missense	probably damaging	0.99
R1740:Mical2	UTSW	7	111,933,043 (GRCm39)	missense	probably benign
R1815:Mical2	UTSW	7	112,012,109 (GRCm39)	missense	probably damaging	1.00
R1855:Mical2	UTSW	7	111,944,489 (GRCm39)	missense	probably benign	0.21
R1958:Mical2	UTSW	7	111,980,311 (GRCm39)	missense	probably benign	0.00
R1962:Mical2	UTSW	7	112,012,051 (GRCm39)	missense	probably benign	0.14
R2086:Mical2	UTSW	7	111,917,810 (GRCm39)	missense	probably benign	0.31
R2136:Mical2	UTSW	7	111,870,722 (GRCm39)	missense	possibly damaging	0.72
R2418:Mical2	UTSW	7	111,919,941 (GRCm39)	critical splice donor site	probably null
R2439:Mical2	UTSW	7	111,994,002 (GRCm39)	missense	probably damaging	0.99
R3053:Mical2	UTSW	7	111,910,630 (GRCm39)	missense	probably damaging	1.00
R3979:Mical2	UTSW	7	112,006,885 (GRCm39)	splice site	probably null
R4308:Mical2	UTSW	7	111,931,199 (GRCm39)	missense	probably benign	0.27
R4551:Mical2	UTSW	7	111,981,123 (GRCm39)	missense	possibly damaging	0.87
R4583:Mical2	UTSW	7	112,012,154 (GRCm39)	missense	probably benign	0.02
R4663:Mical2	UTSW	7	111,927,884 (GRCm39)	missense	possibly damaging	0.80
R4868:Mical2	UTSW	7	111,917,831 (GRCm39)	missense	probably damaging	1.00
R4902:Mical2	UTSW	7	111,936,107 (GRCm39)	missense	probably benign
R5112:Mical2	UTSW	7	111,919,818 (GRCm39)	missense	probably damaging	1.00
R5459:Mical2	UTSW	7	111,981,444 (GRCm39)	missense	probably benign	0.00
R5563:Mical2	UTSW	7	111,914,185 (GRCm39)	missense	probably damaging	1.00
R5763:Mical2	UTSW	7	111,973,861 (GRCm39)	critical splice donor site	probably null
R5817:Mical2	UTSW	7	111,922,866 (GRCm39)	missense	probably benign
R5987:Mical2	UTSW	7	111,934,155 (GRCm39)	missense	probably benign	0.00
R6042:Mical2	UTSW	7	111,979,619 (GRCm39)	missense	probably benign	0.40
R6087:Mical2	UTSW	7	111,917,692 (GRCm39)	nonsense	probably null
R6189:Mical2	UTSW	7	112,012,087 (GRCm39)	missense	probably damaging	1.00
R6209:Mical2	UTSW	7	111,923,293 (GRCm39)	splice site	probably null
R6311:Mical2	UTSW	7	111,922,765 (GRCm39)	missense	probably damaging	1.00
R6319:Mical2	UTSW	7	111,927,884 (GRCm39)	missense	possibly damaging	0.80
R6578:Mical2	UTSW	7	111,910,652 (GRCm39)	missense	probably damaging	1.00
R6750:Mical2	UTSW	7	111,981,046 (GRCm39)	missense	probably damaging	0.98
R6782:Mical2	UTSW	7	111,945,968 (GRCm39)	missense	probably damaging	1.00
R6798:Mical2	UTSW	7	111,975,266 (GRCm39)	utr 3 prime	probably benign
R7061:Mical2	UTSW	7	111,946,008 (GRCm39)	missense	probably benign	0.10
R7147:Mical2	UTSW	7	111,922,810 (GRCm39)	missense	possibly damaging	0.77
R7260:Mical2	UTSW	7	111,919,001 (GRCm39)	missense	probably benign	0.10
R7266:Mical2	UTSW	7	111,902,963 (GRCm39)	missense	probably damaging	1.00
R7347:Mical2	UTSW	7	111,981,358 (GRCm39)	missense	probably benign	0.01
R7391:Mical2	UTSW	7	111,919,816 (GRCm39)	missense	probably damaging	1.00
R7724:Mical2	UTSW	7	111,922,833 (GRCm39)	missense	probably damaging	1.00
R7747:Mical2	UTSW	7	111,933,046 (GRCm39)	missense	probably benign	0.02
R7783:Mical2	UTSW	7	112,012,183 (GRCm39)	missense	probably damaging	1.00
R7818:Mical2	UTSW	7	111,944,514 (GRCm39)	missense	probably damaging	1.00
R7824:Mical2	UTSW	7	112,006,844 (GRCm39)	missense	probably damaging	1.00
R7995:Mical2	UTSW	7	111,980,975 (GRCm39)	missense	probably benign	0.31
R8022:Mical2	UTSW	7	111,902,974 (GRCm39)	missense	probably damaging	1.00
R8429:Mical2	UTSW	7	111,944,460 (GRCm39)	missense	probably benign	0.01
R8505:Mical2	UTSW	7	111,919,007 (GRCm39)	missense	probably benign	0.02
R8532:Mical2	UTSW	7	111,917,751 (GRCm39)	missense	probably damaging	1.00
R8830:Mical2	UTSW	7	111,980,403 (GRCm39)	missense	probably benign	0.01
R8862:Mical2	UTSW	7	111,910,574 (GRCm39)	missense	probably damaging	1.00
R8906:Mical2	UTSW	7	111,980,671 (GRCm39)	missense	probably damaging	0.99
R8988:Mical2	UTSW	7	111,910,661 (GRCm39)	missense	possibly damaging	0.63
R9006:Mical2	UTSW	7	111,981,323 (GRCm39)	missense	probably benign	0.13
R9123:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9127:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9128:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9129:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9140:Mical2	UTSW	7	112,006,826 (GRCm39)	missense	probably damaging	1.00
R9187:Mical2	UTSW	7	111,902,797 (GRCm39)	nonsense	probably null
R9233:Mical2	UTSW	7	111,981,399 (GRCm39)	missense	probably benign	0.05
R9304:Mical2	UTSW	7	111,980,974 (GRCm39)	missense	probably damaging	0.97
R9310:Mical2	UTSW	7	111,950,920 (GRCm39)	missense	probably benign	0.45
R9377:Mical2	UTSW	7	111,981,246 (GRCm39)	missense	probably benign	0.10
R9399:Mical2	UTSW	7	111,946,082 (GRCm39)	missense	probably damaging	1.00
R9457:Mical2	UTSW	7	112,010,665 (GRCm39)	missense	probably damaging	0.96
R9500:Mical2	UTSW	7	111,936,054 (GRCm39)	critical splice acceptor site	probably null
R9620:Mical2	UTSW	7	111,980,403 (GRCm39)	missense	probably benign	0.01
R9652:Mical2	UTSW	7	111,945,996 (GRCm39)	missense	probably damaging	1.00
R9657:Mical2	UTSW	7	111,921,806 (GRCm39)	missense	probably benign	0.37
R9756:Mical2	UTSW	7	111,902,928 (GRCm39)	missense	probably damaging	0.99
R9789:Mical2	UTSW	7	111,945,996 (GRCm39)	missense	probably damaging	1.00
RF008:Mical2	UTSW	7	111,922,833 (GRCm39)	missense	probably damaging	1.00
X0062:Mical2	UTSW	7	111,946,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTCTGGAGTGTGTCAG -3'
(R):5'- CTTCTGGGGAAAAGAATCAGCC -3'

Sequencing Primer
(F):5'- AGTGTGTCAGACATTGCAGG -3'
(R):5'- CCTCAGTTCCAGGAATGTGAC -3'

Posted On

2016-10-05