Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Mical1'

317745

Institutional Source

Beutler Lab

Gene Symbol

Mical1

Ensembl Gene

ENSMUSG00000019823

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 1

Synonyms

Nical

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41476314-41487032 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 41486937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019965] [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000105507] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000155411]

AlphaFold

Q8VDP3

Predicted Effect

probably benign
Transcript: ENSMUST00000019965

SMART Domains

Protein: ENSMUSP00000019965
Gene: ENSMUSG00000019822

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	11	272	3.9e-24	PFAM
transmembrane domain	322	344	N/A	INTRINSIC
transmembrane domain	353	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019967

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	84	140	5.5e-8	PFAM
Pfam:FAD_binding_2	86	125	6.1e-6	PFAM
low complexity region	160	171	N/A	INTRINSIC
CH	509	606	4.18e-13	SMART
low complexity region	649	666	N/A	INTRINSIC
LIM	682	736	2.07e-3	SMART
low complexity region	766	785	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	855	877	N/A	INTRINSIC
DUF3585	912	1048	3.07e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099934

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823

Domain	Start	End	E-Value	Type
PDB:2C4C\|B	1	86	5e-49	PDB
low complexity region	87	98	N/A	INTRINSIC
PDB:2C4C\|B	99	416	N/A	PDB
CH	436	533	4.18e-13	SMART
low complexity region	576	593	N/A	INTRINSIC
LIM	609	663	2.07e-3	SMART
low complexity region	693	712	N/A	INTRINSIC
low complexity region	714	730	N/A	INTRINSIC
low complexity region	782	804	N/A	INTRINSIC
DUF3585	839	975	3.07e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105507

SMART Domains

Protein: ENSMUSP00000101146
Gene: ENSMUSG00000078451

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
Pfam:Pro_isomerase	147	310	1.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119962

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	84	140	7.2e-8	PFAM
Pfam:FAD_binding_2	86	125	3.8e-6	PFAM
low complexity region	160	171	N/A	INTRINSIC
CH	509	606	4.18e-13	SMART
low complexity region	649	666	N/A	INTRINSIC
LIM	682	736	2.07e-3	SMART
low complexity region	766	785	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	855	877	N/A	INTRINSIC
DUF3585	912	1048	3.07e-44	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125099

Predicted Effect

probably benign
Transcript: ENSMUST00000126436

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	84	140	1.1e-7	PFAM
Pfam:FAD_binding_2	86	125	3.2e-6	PFAM
low complexity region	160	171	N/A	INTRINSIC
CH	509	606	4.18e-13	SMART
low complexity region	649	666	N/A	INTRINSIC
LIM	682	736	2.07e-3	SMART
low complexity region	766	785	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	855	877	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215608

Predicted Effect

probably benign
Transcript: ENSMUST00000155411

SMART Domains

Protein: ENSMUSP00000115461
Gene: ENSMUSG00000019822

Domain	Start	End	E-Value	Type
SCOP:d2dnja_	9	81	2e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,043,996	M2173V	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Angpt1	T	C	15: 42,523,545	T138A	probably damaging	Het
Atp2c2	G	A	8: 119,749,871		probably null	Het
C330027C09Rik	T	C	16: 49,000,976		probably benign	Het
Cadm2	A	G	16: 66,784,788	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,409,113	D671E	probably damaging	Het
Chd2	C	T	7: 73,501,016	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,191,007	Q29*	probably null	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,251,459		noncoding transcript	Het
Gsdma2	T	A	11: 98,650,851	S135T	probably benign	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hoxb3	C	A	11: 96,346,100	H335N	probably damaging	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,708,730	T90I	probably damaging	Het
Kansl3	C	A	1: 36,344,954	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,299,614	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,877,915	E12V	probably damaging	Het
Klk15	A	T	7: 43,938,780	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,387,716	M1K	probably null	Het
Lrig1	T	C	6: 94,613,578	D487G	probably benign	Het
Lrp8	T	A	4: 107,843,271	C135*	probably null	Het
Lrrc31	C	A	3: 30,695,522	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,325,216	V663A	possibly damaging	Het
Med27	G	A	2: 29,377,908		probably benign	Het
Myt1	A	T	2: 181,811,398	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,445,958	M477V	probably benign	Het
Npy4r	T	C	14: 34,147,141	I63M	probably benign	Het
Olfr224	A	T	11: 58,566,829	I172N	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr672	C	T	7: 104,996,635	G90S	probably benign	Het
Olfr904	T	A	9: 38,464,083	L14Q	probably null	Het
Piezo1	A	C	8: 122,501,160		probably null	Het
Ppp1r12c	T	C	7: 4,483,367	E601G	probably damaging	Het
Proser1	T	C	3: 53,479,712		probably null	Het
Psme2	A	T	14: 55,588,277	N143K	probably benign	Het
Pygo2	C	A	3: 89,433,264	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,749,789	T77A	possibly damaging	Het
Recql5	A	G	11: 115,904,888	S190P	probably benign	Het
Serpina12	A	G	12: 104,037,924	F150L	probably damaging	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,612,394	T357M	probably damaging	Het
Spag6l	A	C	16: 16,829,024	N39K	probably benign	Het
Srl	A	G	16: 4,497,452	S109P	possibly damaging	Het
Tagap	A	T	17: 7,929,423	H152L	probably damaging	Het
Tbx3	T	A	5: 119,680,748	S463T	probably benign	Het
Tcaf2	A	G	6: 42,642,838	L85P	probably damaging	Het
Tenm4	A	T	7: 96,895,772	S2332C	probably damaging	Het
Trim60	A	T	8: 65,001,378	M73K	probably benign	Het
Trpc1	T	C	9: 95,706,865	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,195,477	L601Q	probably benign	Het
Unc5d	T	C	8: 28,844,837	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,611,783	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,220,857	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,944	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,583,380	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,942,258	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,942,259	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,621,234	V536A	probably benign	Het
Vstm2a	A	G	11: 16,259,884	T37A	probably damaging	Het
Wfs1	T	C	5: 36,967,465	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,309,781	S2440P	possibly damaging	Het
Zfp61	A	G	7: 24,291,275		probably null	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het

Other mutations in Mical1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Mical1	APN	10	41479069	critical splice donor site	probably null
IGL01594:Mical1	APN	10	41480329	missense	probably damaging	1.00
IGL02065:Mical1	APN	10	41484411	missense	possibly damaging	0.55
IGL02321:Mical1	APN	10	41486664	missense	possibly damaging	0.52
IGL02323:Mical1	APN	10	41486664	missense	possibly damaging	0.52
IGL02324:Mical1	APN	10	41486664	missense	possibly damaging	0.52
IGL02327:Mical1	APN	10	41486664	missense	possibly damaging	0.52
IGL02416:Mical1	APN	10	41484810	critical splice donor site	probably null
IGL02419:Mical1	APN	10	41482277	missense	possibly damaging	0.73
IGL03027:Mical1	APN	10	41479505	unclassified	probably benign
IGL03087:Mical1	APN	10	41482690	missense	probably damaging	1.00
IGL03368:Mical1	APN	10	41479629	missense	probably damaging	0.96
IGL03387:Mical1	APN	10	41478199	missense	probably damaging	1.00
PIT1430001:Mical1	UTSW	10	41483496	missense	possibly damaging	0.55
R0433:Mical1	UTSW	10	41479490	missense	probably benign	0.15
R0617:Mical1	UTSW	10	41481315	missense	probably damaging	0.97
R0638:Mical1	UTSW	10	41482239	missense	probably benign	0.01
R1535:Mical1	UTSW	10	41485211	missense	possibly damaging	0.55
R1623:Mical1	UTSW	10	41481393	critical splice donor site	probably null
R1712:Mical1	UTSW	10	41480363	missense	probably damaging	1.00
R1806:Mical1	UTSW	10	41478214	missense	probably damaging	0.96
R1835:Mical1	UTSW	10	41483535	missense	probably benign	0.00
R1866:Mical1	UTSW	10	41485470	missense	probably benign	0.39
R2134:Mical1	UTSW	10	41482712	missense	probably damaging	1.00
R2352:Mical1	UTSW	10	41482233	missense	probably benign	0.21
R3740:Mical1	UTSW	10	41479071	missense	probably benign	0.01
R4033:Mical1	UTSW	10	41481176	missense	probably benign	0.40
R4184:Mical1	UTSW	10	41481870	unclassified	probably benign
R4194:Mical1	UTSW	10	41481628	missense	possibly damaging	0.88
R4659:Mical1	UTSW	10	41486936	unclassified	probably benign
R5139:Mical1	UTSW	10	41478415	splice site	probably null
R5173:Mical1	UTSW	10	41484989	missense	probably damaging	1.00
R5340:Mical1	UTSW	10	41483431	splice site	probably null
R5501:Mical1	UTSW	10	41486079	missense	probably benign	0.01
R5560:Mical1	UTSW	10	41478965	missense	probably damaging	1.00
R5726:Mical1	UTSW	10	41483696	unclassified	probably benign
R5864:Mical1	UTSW	10	41486068	missense	possibly damaging	0.88
R5905:Mical1	UTSW	10	41486877	missense	probably benign	0.00
R6028:Mical1	UTSW	10	41486877	missense	probably benign	0.00
R6047:Mical1	UTSW	10	41481707	critical splice donor site	probably null
R6074:Mical1	UTSW	10	41486065	missense	probably benign	0.27
R6458:Mical1	UTSW	10	41484735	missense	probably benign	0.44
R6879:Mical1	UTSW	10	41484519	missense	probably damaging	0.99
R6966:Mical1	UTSW	10	41479754	missense	probably damaging	0.98
R7049:Mical1	UTSW	10	41482250	missense	possibly damaging	0.63
R7095:Mical1	UTSW	10	41479210	splice site	probably null
R7156:Mical1	UTSW	10	41485257	critical splice donor site	probably null
R7312:Mical1	UTSW	10	41479776	critical splice donor site	probably null
R8021:Mical1	UTSW	10	41482724	missense	probably damaging	0.97
R8056:Mical1	UTSW	10	41481172	missense	probably damaging	1.00
R8427:Mical1	UTSW	10	41478595	missense	probably damaging	1.00
R8883:Mical1	UTSW	10	41479640	missense
R9021:Mical1	UTSW	10	41485145	missense	probably benign	0.43
R9368:Mical1	UTSW	10	41481306	missense	possibly damaging	0.76
R9526:Mical1	UTSW	10	41482606	missense	probably benign
R9651:Mical1	UTSW	10	41486026	critical splice acceptor site	probably null
X0020:Mical1	UTSW	10	41478996	missense	probably damaging	1.00
Z1177:Mical1	UTSW	10	41481705	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAACACAGTCCTCTGGC -3'
(R):5'- TTTAGAGCGTTGGCCTCTC -3'

Sequencing Primer
(F):5'- CCAGGTTCCTGTGGTCTAAGC -3'
(R):5'- AGAGCGTTGGCCTCTCACTTG -3'

Posted On

2015-05-15