Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Mical1'

205185

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

039862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1835 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

41476314-41487032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41483535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 586 (S586P)

Ref Sequence

ENSEMBL: ENSMUSP00000113783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019965] [ENSMUST00000019967] [ENSMUST00000099934] [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
AA Change: S586P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: S586P

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
AA Change: S513P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: S513P

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: S586P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: S586P

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

noncoding transcript
Transcript: ENSMUST00000125730

Predicted Effect

probably benign
Transcript: ENSMUST00000126436
AA Change: S586P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: S586P

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: ENSMUST00000132170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147367

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
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
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'- GACAACCTTCATGCGCTCAC -3'
(R):5'- TCTGGAGTTTGCCAAGGAAAAG -3'

Sequencing Primer
(F):5'- ATGCGCTCACTCACCCC -3'
(R):5'- AAGTATAGCACTGGGGGTTCC -3'

Posted On

2014-06-23