Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Mical2'

311191

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

040942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

splice site (19 bp from exon)

DNA Base Change (assembly)

A to G at 112006885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051308] [ENSMUST00000106645] [ENSMUST00000106645]

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

probably null
Transcript: ENSMUST00000051308

SMART Domains

Protein: ENSMUSP00000062443
Gene: ENSMUSG00000030771

Domain	Start	End	E-Value	Type
low complexity region	6	34	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
low complexity region	479	496	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
DUF3585	526	668	6.86e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106645

SMART Domains

Protein: ENSMUSP00000102256
Gene: ENSMUSG00000030771

Domain	Start	End	E-Value	Type
low complexity region	6	34	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
low complexity region	479	496	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
DUF3585	526	668	6.86e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106645

SMART Domains

Protein: ENSMUSP00000102256
Gene: ENSMUSG00000030771

Domain	Start	End	E-Value	Type
low complexity region	6	34	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
low complexity region	479	496	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
DUF3585	526	668	6.86e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140202

Predicted Effect

probably null
Transcript: ENSMUST00000153697

Predicted Effect

probably null
Transcript: ENSMUST00000213108

Predicted Effect

probably benign
Transcript: ENSMUST00000215412

Predicted Effect

probably null
Transcript: ENSMUST00000216652

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ak3	T	A	19: 29,025,118 (GRCm39)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dnajb6	T	C	5: 29,956,006 (GRCm39)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Klk1b4	G	A	7: 43,861,017 (GRCm39)	G220D	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tasor	T	C	14: 27,199,087 (GRCm39)	L1335S	possibly damaging	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vax2	T	C	6: 83,714,529 (GRCm39)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	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
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'- TAAACATGGCCCGCTAAAGTG -3'
(R):5'- TTTTAGCCACTGAACTCTGCAG -3'

Sequencing Primer
(F):5'- CTCGGAAGCAGTTTGATCATG -3'
(R):5'- CAGAGAGAGCAGACAAGTAAAGAGTC -3'

Posted On

2015-04-29