Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Mical2'

449103

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

043397-MU

Accession Numbers

Essential gene?

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

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111922866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 624 (T624S)

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: T624S

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

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: T624S

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: T624S

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

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: T624S

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

0.0577

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Chst15	A	T	7: 131,870,873 (GRCm39)	Y221N	probably damaging	Het
Chst15	G	A	7: 131,870,876 (GRCm39)	L220F	probably damaging	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Or8d2b	A	G	9: 38,788,673 (GRCm39)	D67G	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Rnf169	A	G	7: 99,574,976 (GRCm39)	S540P	probably benign	Het
Serpini1	T	A	3: 75,520,631 (GRCm39)	M76K	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	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
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'- GCTTCTTATGCGCAAGTCATCC -3'
(R):5'- CTGGAGGCTATGGAGAGATCAC -3'

Sequencing Primer
(F):5'- CAGCAACTTTGACTCGCTGAATG -3'
(R):5'- TATGGAGAGATCACTACACCTCTTC -3'

Posted On

2016-12-20