Mutagenetix > Incidental Mutation

Incidental Mutation 'R1740:Mical2'

200283

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

039772-MU

Accession Numbers

Essential gene?

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

Stock #

R1740 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111933043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 739 (R739L)

Ref Sequence

ENSEMBL: ENSMUSP00000047639 (fasta)

Gene Model

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

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

probably benign
Transcript: ENSMUST00000037991
AA Change: R739L

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

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: R739L

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 benign
Transcript: ENSMUST00000050149

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244

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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,549 (GRCm39)	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,488,885 (GRCm39)		noncoding transcript	Het
Abcc12	T	A	8: 87,232,126 (GRCm39)	K1311*	probably null	Het
Abcc12	T	C	8: 87,236,400 (GRCm39)	D1138G	possibly damaging	Het
Adam32	A	G	8: 25,411,314 (GRCm39)	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,331,004 (GRCm39)	L39F	probably damaging	Het
Babam1	T	C	8: 71,855,663 (GRCm39)	I252T	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc61	G	T	7: 18,637,862 (GRCm39)		probably benign	Het
Ccdc89	C	T	7: 90,075,946 (GRCm39)	S52F	probably damaging	Het
Cds2	T	A	2: 132,144,133 (GRCm39)	I320N	possibly damaging	Het
Cebpe	T	C	14: 54,949,399 (GRCm39)	Y6C	probably damaging	Het
Cep250	T	A	2: 155,815,276 (GRCm39)	I598N	probably damaging	Het
Cep350	T	A	1: 155,804,579 (GRCm39)	I835F	probably damaging	Het
Ces3a	T	C	8: 105,775,317 (GRCm39)	L22P	probably damaging	Het
Cfap221	T	C	1: 119,873,558 (GRCm39)	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,207,613 (GRCm39)	V234A	probably benign	Het
Dgat1	T	C	15: 76,386,929 (GRCm39)	H399R	probably damaging	Het
Dnah10	A	T	5: 124,850,254 (GRCm39)		probably null	Het
Ebpl	T	G	14: 61,578,656 (GRCm39)	K193T	probably benign	Het
Entpd5	T	C	12: 84,443,545 (GRCm39)	N66S	probably benign	Het
Fcgbp	G	T	7: 27,800,674 (GRCm39)	G1240V	possibly damaging	Het
Gabra5	A	G	7: 57,071,590 (GRCm39)	S209P	probably benign	Het
Glce	A	T	9: 61,977,815 (GRCm39)	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 154,866,851 (GRCm39)		probably benign	Het
Gtf2h1	A	G	7: 46,461,890 (GRCm39)	N296S	probably null	Het
Herc6	T	C	6: 57,629,050 (GRCm39)	S654P	probably benign	Het
Kcnk3	A	T	5: 30,779,321 (GRCm39)	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,359,127 (GRCm39)	V281G	probably damaging	Het
Lctl	A	T	9: 64,040,389 (GRCm39)	D444V	probably damaging	Het
Mcm2	A	G	6: 88,861,026 (GRCm39)	F891L	probably damaging	Het
Mcub	A	T	3: 129,712,376 (GRCm39)	H166Q	probably benign	Het
Mideas	T	C	12: 84,219,676 (GRCm39)	E426G	probably damaging	Het
Mkrn2	G	T	6: 115,590,330 (GRCm39)	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,278 (GRCm39)	Y80C	possibly damaging	Het
Mpp2	T	C	11: 101,953,222 (GRCm39)		probably null	Het
Msh6	C	A	17: 88,293,150 (GRCm39)	T635K	possibly damaging	Het
Mvd	T	A	8: 123,163,286 (GRCm39)	T315S	probably benign	Het
Myocd	C	T	11: 65,109,347 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,386,127 (GRCm39)		probably null	Het
Or4k48	T	A	2: 111,476,214 (GRCm39)	I43F	probably damaging	Het
Pde4b	A	T	4: 102,344,548 (GRCm39)	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,214,905 (GRCm39)	D978V	possibly damaging	Het
Prss55	T	C	14: 64,313,129 (GRCm39)	T252A	probably damaging	Het
Psd3	A	T	8: 68,573,491 (GRCm39)	V230E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,238,694 (GRCm39)	V82A	probably damaging	Het
Ptpru	G	T	4: 131,520,989 (GRCm39)		probably null	Het
Raph1	T	A	1: 60,558,183 (GRCm39)	K258*	probably null	Het
Rnf25	A	G	1: 74,637,886 (GRCm39)	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,661,540 (GRCm39)	V212M	probably benign	Het
Slc39a3	T	C	10: 80,867,342 (GRCm39)	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,356,097 (GRCm39)	I220M	probably damaging	Het
Smim19	G	T	8: 22,963,544 (GRCm39)	Y21*	probably null	Het
Speer4f1	A	C	5: 17,683,759 (GRCm39)	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,217,126 (GRCm39)	P1062L	probably benign	Het
Stra8	A	T	6: 34,904,654 (GRCm39)		probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem40	A	G	6: 115,715,960 (GRCm39)	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,083,869 (GRCm39)	Q191L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		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
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
R5487:Mical2	UTSW	7	111,919,842 (GRCm39)	missense	probably damaging	1.00
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'- GATTCACACATCGTCCCAGAGCAG -3'
(R):5'- TTGATCCCACCCCTTGGCTCAAAG -3'

Sequencing Primer
(F):5'- GGACTACAGGACTTGTCCATC -3'
(R):5'- CCTTGGCTCAAAGTCCCC -3'

Posted On

2014-05-23