Mutagenetix > Incidental Mutation

Incidental Mutation 'R4308:Mical2'

324098

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

041659-MU

Accession Numbers

Essential gene?

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

Stock #

R4308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111931199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 721 (L721I)

Ref Sequence

ENSEMBL: ENSMUSP00000051163 (fasta)

Gene Model

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

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

probably benign
Transcript: ENSMUST00000037991
AA Change: L721I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: L721I

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: L721I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: L721I

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,588,311 (GRCm39)	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Asap2	T	C	12: 21,279,482 (GRCm39)	I426T	probably damaging	Het
Ascc1	T	G	10: 59,849,434 (GRCm39)	H108Q	probably benign	Het
Bod1l	A	T	5: 41,949,156 (GRCm39)	S2989T	possibly damaging	Het
Cfap157	G	A	2: 32,669,054 (GRCm39)	R350W	probably damaging	Het
Cyp39a1	T	A	17: 44,041,855 (GRCm39)		probably null	Het
Dars2	A	G	1: 160,869,291 (GRCm39)	S653P	probably damaging	Het
Fancm	A	T	12: 65,173,305 (GRCm39)	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,423 (GRCm39)	C205*	probably null	Het
Gsdmc2	A	G	15: 63,720,554 (GRCm39)		probably benign	Het
Il31	A	G	5: 123,618,769 (GRCm39)	S6P	probably damaging	Het
Iqca1	T	C	1: 90,072,619 (GRCm39)	K87R	probably damaging	Het
Kif15	T	G	9: 122,843,047 (GRCm39)	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,158,690 (GRCm39)	A653T	unknown	Het
Lamb1	T	C	12: 31,379,254 (GRCm39)	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,142,586 (GRCm39)	R353S	probably benign	Het
Myo1b	T	C	1: 51,922,268 (GRCm39)	K37E	probably benign	Het
Myo5b	A	G	18: 74,864,811 (GRCm39)	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,343,584 (GRCm39)	A470T	possibly damaging	Het
Obi1	T	A	14: 104,717,029 (GRCm39)	N448I	probably damaging	Het
Or12e13	T	C	2: 87,663,614 (GRCm39)	I77T	probably damaging	Het
Or14j10	C	T	17: 37,934,627 (GRCm39)	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,399,714 (GRCm39)	D555V	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rbm20	A	G	19: 53,831,691 (GRCm39)	S642G	probably damaging	Het
Rnf144b	A	G	13: 47,396,418 (GRCm39)	N252D	probably damaging	Het
Rwdd2b	A	T	16: 87,233,615 (GRCm39)	W162R	probably damaging	Het
Scaf11	A	G	15: 96,344,396 (GRCm39)	M19T	probably benign	Het
Sft2d2	A	G	1: 165,015,833 (GRCm39)	I45T	probably benign	Het
Skint5	A	T	4: 113,341,164 (GRCm39)	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Tasor2	A	C	13: 3,619,498 (GRCm39)	S2244R	probably damaging	Het
Ubr4	T	C	4: 139,199,820 (GRCm39)	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,508,268 (GRCm39)	Y285*	probably null	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp983	A	G	17: 21,881,124 (GRCm39)	I351V	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
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'- CTGTGAGCATCAGTTCCAGG -3'
(R):5'- ACGTCTGTTACTTCATAACCAGGAG -3'

Sequencing Primer
(F):5'- TGAGCATCAGTTCCAGGACTCATC -3'
(R):5'- TTACTTCATAACCAGGAGGCTGAAG -3'

Posted On

2015-06-24