Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Mical1'

292582

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: 0.154) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

41476314-41487032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41482277 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 429 (K429E)

Ref Sequence

ENSEMBL: ENSMUSP00000097519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019965] [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000151486]

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
AA Change: K502E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: K502E

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

possibly damaging
Transcript: ENSMUST00000099934
AA Change: K429E

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: K429E

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: ENSMUST00000119962
AA Change: K502E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: K502E

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: ENSMUST00000123798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125730

Predicted Effect

probably benign
Transcript: ENSMUST00000126436
AA Change: K502E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: K502E

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: ENSMUST00000130838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143470

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	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
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

2015-04-16