Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Mical1'

617375

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

067460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41476314-41487032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41482724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 546 (V546A)

Ref Sequence

ENSEMBL: ENSMUSP00000019967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019965] [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000151486] [ENSMUST00000155411]

AlphaFold

Q8VDP3

PDB Structure

STRUCTURE OF N-TERMINAL FAD BINDING MOTIF OF MOUSE MICAL [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE NATIVE MONOOXYGENASE DOMAIN OF MICAL AT 1.45 A RESOLUTION [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE NADPH-TREATED MONOOXYGENASE DOMAIN OF MICAL [X-RAY DIFFRACTION]

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 damaging
Transcript: ENSMUST00000019967
AA Change: V546A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: V546A

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: V473A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: V473A

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

possibly damaging
Transcript: ENSMUST00000119962
AA Change: V546A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: V546A

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

probably damaging
Transcript: ENSMUST00000126436
AA Change: V546A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: V546A

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

probably benign
Transcript: ENSMUST00000151486

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

0.4862

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	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
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
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'- TCCCCTGGCTTTTATGGAGC -3'
(R):5'- AGACTCTGTAAAGCCTTGCTG -3'

Sequencing Primer
(F):5'- CTTTTATGGAGCAAGGGTTTAGAATG -3'
(R):5'- CCTTGCTGGGCTGCTGAG -3'

Posted On

2020-01-23