Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Mical1'

38936

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

038635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41352310-41363028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41355486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 150 (V150I)

Ref Sequence

ENSEMBL: ENSMUSP00000097519 (fasta)

Gene Model

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

AlphaFold

Q8VDP3

Predicted Effect

probably benign
Transcript: ENSMUST00000019967
AA Change: V223I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: V223I

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: V150I

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: V150I

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: V223I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: V223I

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 benign
Transcript: ENSMUST00000126436
AA Change: V223I

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

SMART Domains

Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: V223I

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

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	Het

Other mutations in Mical1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Mical1	APN	10	41,355,065 (GRCm39)	critical splice donor site	probably null
IGL01594:Mical1	APN	10	41,356,325 (GRCm39)	missense	probably damaging	1.00
IGL02065:Mical1	APN	10	41,360,407 (GRCm39)	missense	possibly damaging	0.55
IGL02321:Mical1	APN	10	41,362,660 (GRCm39)	missense	possibly damaging	0.52
IGL02323:Mical1	APN	10	41,362,660 (GRCm39)	missense	possibly damaging	0.52
IGL02324:Mical1	APN	10	41,362,660 (GRCm39)	missense	possibly damaging	0.52
IGL02327:Mical1	APN	10	41,362,660 (GRCm39)	missense	possibly damaging	0.52
IGL02416:Mical1	APN	10	41,360,806 (GRCm39)	critical splice donor site	probably null
IGL02419:Mical1	APN	10	41,358,273 (GRCm39)	missense	possibly damaging	0.73
IGL03027:Mical1	APN	10	41,355,501 (GRCm39)	unclassified	probably benign
IGL03087:Mical1	APN	10	41,358,686 (GRCm39)	missense	probably damaging	1.00
IGL03368:Mical1	APN	10	41,355,625 (GRCm39)	missense	probably damaging	0.96
IGL03387:Mical1	APN	10	41,354,195 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Mical1	UTSW	10	41,359,492 (GRCm39)	missense	possibly damaging	0.55
R0617:Mical1	UTSW	10	41,357,311 (GRCm39)	missense	probably damaging	0.97
R0638:Mical1	UTSW	10	41,358,235 (GRCm39)	missense	probably benign	0.01
R1535:Mical1	UTSW	10	41,361,207 (GRCm39)	missense	possibly damaging	0.55
R1623:Mical1	UTSW	10	41,357,389 (GRCm39)	critical splice donor site	probably null
R1712:Mical1	UTSW	10	41,356,359 (GRCm39)	missense	probably damaging	1.00
R1806:Mical1	UTSW	10	41,354,210 (GRCm39)	missense	probably damaging	0.96
R1835:Mical1	UTSW	10	41,359,531 (GRCm39)	missense	probably benign	0.00
R1866:Mical1	UTSW	10	41,361,466 (GRCm39)	missense	probably benign	0.39
R2134:Mical1	UTSW	10	41,358,708 (GRCm39)	missense	probably damaging	1.00
R2352:Mical1	UTSW	10	41,358,229 (GRCm39)	missense	probably benign	0.21
R3740:Mical1	UTSW	10	41,355,067 (GRCm39)	missense	probably benign	0.01
R4033:Mical1	UTSW	10	41,357,172 (GRCm39)	missense	probably benign	0.40
R4093:Mical1	UTSW	10	41,362,933 (GRCm39)	unclassified	probably benign
R4184:Mical1	UTSW	10	41,357,866 (GRCm39)	unclassified	probably benign
R4194:Mical1	UTSW	10	41,357,624 (GRCm39)	missense	possibly damaging	0.88
R4659:Mical1	UTSW	10	41,362,932 (GRCm39)	unclassified	probably benign
R5139:Mical1	UTSW	10	41,354,411 (GRCm39)	splice site	probably null
R5173:Mical1	UTSW	10	41,360,985 (GRCm39)	missense	probably damaging	1.00
R5340:Mical1	UTSW	10	41,359,427 (GRCm39)	splice site	probably null
R5501:Mical1	UTSW	10	41,362,075 (GRCm39)	missense	probably benign	0.01
R5560:Mical1	UTSW	10	41,354,961 (GRCm39)	missense	probably damaging	1.00
R5726:Mical1	UTSW	10	41,359,692 (GRCm39)	unclassified	probably benign
R5864:Mical1	UTSW	10	41,362,064 (GRCm39)	missense	possibly damaging	0.88
R5905:Mical1	UTSW	10	41,362,873 (GRCm39)	missense	probably benign	0.00
R6028:Mical1	UTSW	10	41,362,873 (GRCm39)	missense	probably benign	0.00
R6047:Mical1	UTSW	10	41,357,703 (GRCm39)	critical splice donor site	probably null
R6074:Mical1	UTSW	10	41,362,061 (GRCm39)	missense	probably benign	0.27
R6458:Mical1	UTSW	10	41,360,731 (GRCm39)	missense	probably benign	0.44
R6879:Mical1	UTSW	10	41,360,515 (GRCm39)	missense	probably damaging	0.99
R6966:Mical1	UTSW	10	41,355,750 (GRCm39)	missense	probably damaging	0.98
R7049:Mical1	UTSW	10	41,358,246 (GRCm39)	missense	possibly damaging	0.63
R7095:Mical1	UTSW	10	41,355,206 (GRCm39)	splice site	probably null
R7156:Mical1	UTSW	10	41,361,253 (GRCm39)	critical splice donor site	probably null
R7312:Mical1	UTSW	10	41,355,772 (GRCm39)	critical splice donor site	probably null
R8021:Mical1	UTSW	10	41,358,720 (GRCm39)	missense	probably damaging	0.97
R8056:Mical1	UTSW	10	41,357,168 (GRCm39)	missense	probably damaging	1.00
R8427:Mical1	UTSW	10	41,354,591 (GRCm39)	missense	probably damaging	1.00
R8883:Mical1	UTSW	10	41,355,636 (GRCm39)	missense
R9021:Mical1	UTSW	10	41,361,141 (GRCm39)	missense	probably benign	0.43
R9368:Mical1	UTSW	10	41,357,302 (GRCm39)	missense	possibly damaging	0.76
R9526:Mical1	UTSW	10	41,358,602 (GRCm39)	missense	probably benign
R9651:Mical1	UTSW	10	41,362,022 (GRCm39)	critical splice acceptor site	probably null
X0020:Mical1	UTSW	10	41,354,992 (GRCm39)	missense	probably damaging	1.00
Z1177:Mical1	UTSW	10	41,357,701 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAGAGTATGGCCTTCCTTACC -3'
(R):5'- CCACGCATCTCTCGTATAGTGAAGC -3'

Sequencing Primer
(F):5'- AAACTACTTTCCAGGGTGTTGAGTC -3'
(R):5'- CTCTCGTATAGTGAAGCCTAGTAG -3'

Posted On

2013-05-23