Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01594:Mical1'

91674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mical1

Ensembl Gene

ENSMUSG00000019823

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 1

Synonyms

Nical

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL01594

Quality Score

Status

Chromosome

Chromosomal Location

41476314-41487032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41480329 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 293 (Y293D)

Ref Sequence

ENSEMBL: ENSMUSP00000114969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000151486]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019967
AA Change: Y293D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: Y293D

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 damaging
Transcript: ENSMUST00000099934
AA Change: Y220D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: Y220D

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 damaging
Transcript: ENSMUST00000119962
AA Change: Y293D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: Y293D

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: ENSMUST00000125099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125730

Predicted Effect

probably damaging
Transcript: ENSMUST00000126436
AA Change: Y293D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: Y293D

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: ENSMUST00000130838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136681

Predicted Effect

probably benign
Transcript: ENSMUST00000151486

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,946,071		probably null	Het
Acss1	A	T	2: 150,621,530	V618E	probably damaging	Het
Adgrg6	T	C	10: 14,434,340	N774D	probably damaging	Het
Atp9a	A	G	2: 168,691,012	V134A	probably damaging	Het
Csmd3	T	A	15: 47,629,239	T3169S	probably benign	Het
D030068K23Rik	T	A	8: 109,251,377	Q52L	unknown	Het
Dnah5	T	C	15: 28,311,334	S1820P	possibly damaging	Het
Fem1c	A	C	18: 46,506,276	S220A	probably benign	Het
Gm10305	G	A	4: 99,273,177	D108N	unknown	Het
Gtdc1	A	G	2: 44,591,879		probably null	Het
Il2ra	T	C	2: 11,680,396	V181A	possibly damaging	Het
Lrrn1	T	C	6: 107,567,493	I84T	probably damaging	Het
Map3k1	T	A	13: 111,758,189		probably null	Het
Mpzl1	T	C	1: 165,593,592	D266G	probably damaging	Het
Olfr544	C	A	7: 102,485,047	M24I	probably benign	Het
Pabpc4l	A	T	3: 46,447,146	V21D	probably damaging	Het
Prdm10	T	C	9: 31,346,853	C525R	probably damaging	Het
Ptprj	C	A	2: 90,440,795		probably benign	Het
Rgs3	T	C	4: 62,619,744	F4S	probably damaging	Het
Ryr3	G	A	2: 112,772,728	T2457I	probably damaging	Het
Scn3a	A	G	2: 65,461,431	I1657T	probably damaging	Het
Sema6a	A	G	18: 47,248,817	S888P	probably damaging	Het
Slc37a1	T	A	17: 31,319,148	Y148*	probably null	Het
Tex10	T	C	4: 48,469,906	N53S	possibly damaging	Het
Tyr	A	T	7: 87,483,814		probably benign	Het
Vmn2r100	A	G	17: 19,531,233	S513G	possibly 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
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
R4093:Mical1	UTSW	10	41486937	unclassified	probably benign
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
X0020:Mical1	UTSW	10	41478996	missense	probably damaging	1.00
Z1177:Mical1	UTSW	10	41481705	missense	probably null	1.00

Posted On

2013-12-09