Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Mical2'

727388

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

Accession Numbers

Essential gene?

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

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111921806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 542 (T542A)

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: T542A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: T542A

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
AA Change: T542A

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: T542A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,243,379 (GRCm39)	D1747E	probably benign	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,656,478 (GRCm39)	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,599 (GRCm39)	S63P	probably damaging	Het
Blzf1	T	C	1: 164,134,023 (GRCm39)	S9G	probably benign	Het
Ccdc121rt1	T	C	1: 181,338,104 (GRCm39)	T283A	probably benign	Het
Cdh22	T	C	2: 164,965,715 (GRCm39)	D488G	probably benign	Het
Cep290	A	G	10: 100,351,003 (GRCm39)	E688G	possibly damaging	Het
Cldn10	A	C	14: 119,025,781 (GRCm39)	E71D	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,386,979 (GRCm39)	D337G	probably null	Het
Dnah5	A	T	15: 28,410,089 (GRCm39)	D3654V	probably damaging	Het
Dock1	T	C	7: 134,339,429 (GRCm39)	S100P	possibly damaging	Het
Hdgfl2	T	C	17: 56,405,978 (GRCm39)	V488A	unknown	Het
Itih2	T	C	2: 10,107,686 (GRCm39)	T627A	probably damaging	Het
Katnip	A	G	7: 125,441,956 (GRCm39)	S648G	probably benign	Het
Klhl33	T	C	14: 51,134,117 (GRCm39)	D144G	probably benign	Het
Lca5l	G	A	16: 95,974,953 (GRCm39)	Q324*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Moxd1	T	A	10: 24,128,485 (GRCm39)	V179E	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Myoc	C	T	1: 162,467,229 (GRCm39)	R133*	probably null	Het
Nol3	A	T	8: 106,005,641 (GRCm39)	I12F	probably damaging	Het
Nrap	A	G	19: 56,352,377 (GRCm39)	V605A	probably benign	Het
Or5w13	T	C	2: 87,524,121 (GRCm39)	Y35C	probably damaging	Het
Or9m2	A	C	2: 87,821,310 (GRCm39)	N285T	probably damaging	Het
Pag1	G	T	3: 9,769,791 (GRCm39)	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,355,056 (GRCm39)	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,135,138 (GRCm39)	F437L	probably benign	Het
Podn	A	C	4: 107,884,231 (GRCm39)	I86S	probably damaging	Het
Postn	A	G	3: 54,290,820 (GRCm39)	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,638,718 (GRCm39)	E104G	probably benign	Het
Prss53	T	C	7: 127,486,238 (GRCm39)	T436A	probably damaging	Het
Psme4	A	T	11: 30,788,980 (GRCm39)	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,512,473 (GRCm39)	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,377 (GRCm39)	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,581,372 (GRCm39)	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,557,155 (GRCm39)	I28T	unknown	Het
Rapgef2	A	T	3: 78,999,191 (GRCm39)	V527E	probably damaging	Het
Rere	C	A	4: 150,699,390 (GRCm39)	P825T	unknown	Het
Rundc3a	A	G	11: 102,291,578 (GRCm39)	T349A	probably benign	Het
Scn2a	T	C	2: 65,566,032 (GRCm39)	F1352S	probably damaging	Het
Senp7	T	A	16: 55,944,295 (GRCm39)	C206*	probably null	Het
Serac1	C	T	17: 6,119,658 (GRCm39)	V91I	probably benign	Het
Serpina1f	G	A	12: 103,656,050 (GRCm39)	Q393*	probably null	Het
Slc8a1	T	C	17: 81,955,244 (GRCm39)	E598G	probably damaging	Het
Slmap	A	T	14: 26,151,013 (GRCm39)	H518Q	probably benign	Het
Spg11	G	A	2: 121,910,781 (GRCm39)	R1199C	probably damaging	Het
Tada1	T	C	1: 166,214,312 (GRCm39)	S104P	possibly damaging	Het
Tbck	A	G	3: 132,421,451 (GRCm39)	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,002,824 (GRCm39)	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,630,260 (GRCm39)		probably null	Het
Trim55	G	A	3: 19,728,671 (GRCm39)	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,237,010 (GRCm39)	M1L	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,133 (GRCm39)	S32R	probably damaging	Het
Vgll3	T	C	16: 65,636,343 (GRCm39)	S220P	probably benign	Het
Virma	A	G	4: 11,544,898 (GRCm39)	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,246,984 (GRCm39)	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,510,690 (GRCm39)	S597P	probably damaging	Het
Wdr7	A	G	18: 64,057,918 (GRCm39)	D1249G	probably damaging	Het
Wdr97	A	G	15: 76,245,476 (GRCm39)	Y1271C		Het
Yju2b	T	C	8: 84,987,084 (GRCm39)	K138E	possibly damaging	Het
Ypel4	A	G	2: 84,568,068 (GRCm39)	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,027,766 (GRCm39)	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,575,729 (GRCm39)	C451S	probably damaging	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
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
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'- TCAGTGGCCATCAGGGTTAC -3'
(R):5'- CATGTTGCTGTCCAAATGAGG -3'

Sequencing Primer
(F):5'- GCCATCAGGGTTACATTTATGTC -3'
(R):5'- ATACTGAGCTGGGTTGGAG -3'

Posted On

2022-10-06