Mutagenetix > Incidental Mutation

Incidental Mutation 'P0028:Mical3'

15800

Institutional Source

Beutler Lab

Gene Symbol

Mical3

Ensembl Gene

ENSMUSG00000051586

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 3

Synonyms

C130040D16Rik, MICAL-3

MMRRC Submission

038281-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

P0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121001650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 614 (M614K)

Ref Sequence

ENSEMBL: ENSMUSP00000146544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077159] [ENSMUST00000203254] [ENSMUST00000204248] [ENSMUST00000204302] [ENSMUST00000207889] [ENSMUST00000205030]

AlphaFold

Q8CJ19

Predicted Effect

probably benign
Transcript: ENSMUST00000077159
AA Change: M614K

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: M614K

Domain	Start	End	E-Value	Type
low complexity region	60	69	N/A	INTRINSIC
Pfam:FAD_binding_3	86	142	1.4e-7	PFAM
low complexity region	162	175	N/A	INTRINSIC
CH	520	619	4.44e-17	SMART
low complexity region	625	635	N/A	INTRINSIC
LIM	763	815	2.78e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203188

Predicted Effect

probably benign
Transcript: ENSMUST00000203254
AA Change: M614K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586
AA Change: M614K

Domain	Start	End	E-Value	Type
low complexity region	60	69	N/A	INTRINSIC
Pfam:FAD_binding_3	86	142	8.6e-6	PFAM
low complexity region	162	175	N/A	INTRINSIC
CH	520	619	2.2e-19	SMART
low complexity region	640	655	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204248
AA Change: M614K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000145439
Gene: ENSMUSG00000051586
AA Change: M614K

Domain	Start	End	E-Value	Type
low complexity region	60	69	N/A	INTRINSIC
Pfam:FAD_binding_3	86	142	9.1e-6	PFAM
low complexity region	162	175	N/A	INTRINSIC
CH	520	619	2.2e-19	SMART
low complexity region	625	635	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204302

SMART Domains

Protein: ENSMUSP00000144972
Gene: ENSMUSG00000051586

Domain	Start	End	E-Value	Type
LIM	82	136	5.39e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204644

Predicted Effect

unknown
Transcript: ENSMUST00000212208
AA Change: M49K

Predicted Effect

probably benign
Transcript: ENSMUST00000207889
AA Change: M614K

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205020

Predicted Effect

probably benign
Transcript: ENSMUST00000205030

SMART Domains

Protein: ENSMUSP00000144882
Gene: ENSMUSG00000051586

Domain	Start	End	E-Value	Type
LIM	115	167	1.4e-5	SMART

Meta Mutation Damage Score

0.4595

Coding Region Coverage

1x: 85.4%
3x: 79.0%
10x: 59.9%
20x: 38.6%

Validation Efficiency

78% (43/55)

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,885,900 (GRCm39)		probably benign	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Cc2d2a	A	G	5: 43,841,541 (GRCm39)	R186G	probably benign	Het
Celsr1	G	A	15: 85,806,436 (GRCm39)	R974W	probably damaging	Het
Cutc	A	G	19: 43,753,408 (GRCm39)	R184G	possibly damaging	Het
Ddx24	T	C	12: 103,374,634 (GRCm39)	N850S	probably benign	Het
Dock1	T	G	7: 134,601,053 (GRCm39)		probably benign	Het
Dusp12	A	T	1: 170,707,386 (GRCm39)	L234*	probably null	Het
Fam171b	T	A	2: 83,683,783 (GRCm39)	V100E	probably damaging	Het
Myh6	C	T	14: 55,201,094 (GRCm39)	V123I	probably benign	Het
Nbeal1	A	G	1: 60,331,096 (GRCm39)	Y2235C	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Raf1	G	A	6: 115,608,166 (GRCm39)		probably benign	Het
Rb1	C	A	14: 73,502,068 (GRCm39)	R439L	probably damaging	Het
Rcsd1	G	A	1: 165,483,566 (GRCm39)	R142W	probably damaging	Het
Rtp1	G	C	16: 23,248,116 (GRCm39)	W63S	probably damaging	Het
Setd2	A	G	9: 110,403,022 (GRCm39)	T1888A	probably benign	Het
Srp68	C	A	11: 116,151,746 (GRCm39)	Q283H	probably damaging	Het
Unc13b	T	A	4: 43,256,225 (GRCm39)	C3927S	probably damaging	Het
Zfp831	A	G	2: 174,487,139 (GRCm39)	K605E	possibly damaging	Het

Other mutations in Mical3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Mical3	APN	6	120,938,585 (GRCm39)	missense	possibly damaging	0.73
IGL00718:Mical3	APN	6	121,017,410 (GRCm39)	missense	probably damaging	0.98
IGL00940:Mical3	APN	6	120,999,371 (GRCm39)	missense	possibly damaging	0.55
IGL00973:Mical3	APN	6	120,911,885 (GRCm39)	splice site	probably benign
IGL01503:Mical3	APN	6	120,935,537 (GRCm39)	missense	probably benign	0.09
IGL01991:Mical3	APN	6	120,912,172 (GRCm39)	missense	probably damaging	0.98
IGL02794:Mical3	APN	6	120,984,270 (GRCm39)	missense	probably damaging	0.99
IGL02996:Mical3	APN	6	120,935,519 (GRCm39)	missense	probably damaging	1.00
IGL03105:Mical3	APN	6	121,019,199 (GRCm39)	missense	probably benign	0.01
IGL03109:Mical3	APN	6	120,986,085 (GRCm39)	missense	probably damaging	1.00
IGL03236:Mical3	APN	6	120,946,345 (GRCm39)	missense	probably benign	0.00
R0244:Mical3	UTSW	6	120,934,683 (GRCm39)	missense	probably benign	0.00
R0494:Mical3	UTSW	6	120,936,162 (GRCm39)	missense	possibly damaging	0.94
R0586:Mical3	UTSW	6	121,006,602 (GRCm39)	unclassified	probably benign
R1029:Mical3	UTSW	6	120,911,639 (GRCm39)	missense	probably benign	0.02
R1263:Mical3	UTSW	6	120,929,430 (GRCm39)	missense	probably damaging	0.99
R1507:Mical3	UTSW	6	121,019,199 (GRCm39)	missense	probably benign	0.36
R1527:Mical3	UTSW	6	121,001,740 (GRCm39)	missense	probably damaging	0.99
R1623:Mical3	UTSW	6	121,001,768 (GRCm39)	missense	probably damaging	0.99
R1680:Mical3	UTSW	6	120,936,604 (GRCm39)	missense	probably benign	0.09
R1697:Mical3	UTSW	6	120,984,369 (GRCm39)	missense	possibly damaging	0.84
R1817:Mical3	UTSW	6	121,019,196 (GRCm39)	missense	probably benign	0.06
R1875:Mical3	UTSW	6	121,019,025 (GRCm39)	missense	probably damaging	1.00
R1961:Mical3	UTSW	6	120,959,568 (GRCm39)	missense	possibly damaging	0.94
R2004:Mical3	UTSW	6	120,928,283 (GRCm39)	missense	probably damaging	1.00
R2093:Mical3	UTSW	6	121,017,347 (GRCm39)	missense	probably damaging	1.00
R2141:Mical3	UTSW	6	121,008,095 (GRCm39)	splice site	probably null
R2142:Mical3	UTSW	6	121,008,095 (GRCm39)	splice site	probably null
R2257:Mical3	UTSW	6	121,010,696 (GRCm39)	missense	possibly damaging	0.94
R2404:Mical3	UTSW	6	120,936,789 (GRCm39)	missense	probably benign	0.01
R2419:Mical3	UTSW	6	120,936,884 (GRCm39)	missense	probably benign
R2509:Mical3	UTSW	6	121,011,118 (GRCm39)	missense	probably damaging	1.00
R3784:Mical3	UTSW	6	120,998,298 (GRCm39)	missense	probably benign	0.00
R4342:Mical3	UTSW	6	120,911,799 (GRCm39)	nonsense	probably null
R4343:Mical3	UTSW	6	120,911,799 (GRCm39)	nonsense	probably null
R4579:Mical3	UTSW	6	120,935,660 (GRCm39)	missense	probably benign
R4603:Mical3	UTSW	6	120,911,799 (GRCm39)	nonsense	probably null
R4605:Mical3	UTSW	6	121,011,041 (GRCm39)	nonsense	probably null
R4610:Mical3	UTSW	6	120,911,799 (GRCm39)	nonsense	probably null
R4611:Mical3	UTSW	6	120,911,799 (GRCm39)	nonsense	probably null
R4623:Mical3	UTSW	6	120,938,586 (GRCm39)	nonsense	probably null
R4669:Mical3	UTSW	6	120,934,664 (GRCm39)	missense	probably damaging	0.98
R4704:Mical3	UTSW	6	120,935,649 (GRCm39)	missense	probably benign	0.00
R4722:Mical3	UTSW	6	121,015,486 (GRCm39)	missense	probably benign	0.00
R4863:Mical3	UTSW	6	121,010,748 (GRCm39)	missense	probably damaging	0.99
R4878:Mical3	UTSW	6	120,946,348 (GRCm39)	missense	possibly damaging	0.51
R4885:Mical3	UTSW	6	120,912,214 (GRCm39)	missense	probably damaging	1.00
R4907:Mical3	UTSW	6	120,984,259 (GRCm39)	missense	probably benign	0.00
R5007:Mical3	UTSW	6	121,015,030 (GRCm39)	missense	probably damaging	0.98
R5299:Mical3	UTSW	6	120,936,473 (GRCm39)	missense	possibly damaging	0.71
R5303:Mical3	UTSW	6	120,936,941 (GRCm39)	missense	probably benign
R5368:Mical3	UTSW	6	120,936,434 (GRCm39)	missense	probably damaging	1.00
R5955:Mical3	UTSW	6	121,010,711 (GRCm39)	missense	probably damaging	0.99
R5970:Mical3	UTSW	6	120,935,232 (GRCm39)	nonsense	probably null
R6000:Mical3	UTSW	6	120,998,281 (GRCm39)	missense	probably benign	0.06
R6101:Mical3	UTSW	6	121,010,671 (GRCm39)	missense	probably damaging	1.00
R6195:Mical3	UTSW	6	120,993,796 (GRCm39)	intron	probably benign
R6210:Mical3	UTSW	6	121,017,478 (GRCm39)	splice site	probably null
R6225:Mical3	UTSW	6	120,935,684 (GRCm39)	missense	probably damaging	0.98
R6258:Mical3	UTSW	6	120,985,991 (GRCm39)	missense	probably damaging	1.00
R6260:Mical3	UTSW	6	120,985,991 (GRCm39)	missense	probably damaging	1.00
R6349:Mical3	UTSW	6	120,936,486 (GRCm39)	missense	probably benign
R6352:Mical3	UTSW	6	120,929,434 (GRCm39)	missense	probably damaging	0.97
R6480:Mical3	UTSW	6	121,011,236 (GRCm39)	missense	possibly damaging	0.76
R6704:Mical3	UTSW	6	120,986,761 (GRCm39)	intron	probably benign
R6783:Mical3	UTSW	6	120,935,786 (GRCm39)	missense	possibly damaging	0.85
R6925:Mical3	UTSW	6	120,936,351 (GRCm39)	missense	probably benign	0.05
R6960:Mical3	UTSW	6	120,935,504 (GRCm39)	missense	probably damaging	1.00
R7170:Mical3	UTSW	6	120,950,694 (GRCm39)	splice site	probably null
R7344:Mical3	UTSW	6	121,013,505 (GRCm39)	nonsense	probably null
R7414:Mical3	UTSW	6	121,011,074 (GRCm39)	missense	probably damaging	1.00
R7455:Mical3	UTSW	6	120,935,705 (GRCm39)	missense	probably damaging	1.00
R7649:Mical3	UTSW	6	120,911,909 (GRCm39)	missense	probably damaging	1.00
R8236:Mical3	UTSW	6	120,989,504 (GRCm39)	missense
R8286:Mical3	UTSW	6	120,998,149 (GRCm39)	missense	possibly damaging	0.68
R8316:Mical3	UTSW	6	120,911,944 (GRCm39)	missense	probably damaging	1.00
R8328:Mical3	UTSW	6	120,912,138 (GRCm39)	missense	probably damaging	0.98
R8354:Mical3	UTSW	6	120,950,381 (GRCm39)	missense	probably damaging	0.99
R8511:Mical3	UTSW	6	121,015,513 (GRCm39)	missense	possibly damaging	0.78
R8687:Mical3	UTSW	6	120,936,438 (GRCm39)	missense	probably benign	0.19
R8728:Mical3	UTSW	6	120,950,514 (GRCm39)	missense	probably damaging	0.99
R8925:Mical3	UTSW	6	120,984,325 (GRCm39)	missense	probably benign	0.00
R8927:Mical3	UTSW	6	120,984,325 (GRCm39)	missense	probably benign	0.00
R8986:Mical3	UTSW	6	120,991,822 (GRCm39)	missense
R9026:Mical3	UTSW	6	120,986,848 (GRCm39)	splice site	probably benign
R9415:Mical3	UTSW	6	120,934,712 (GRCm39)	missense	probably damaging	1.00
R9515:Mical3	UTSW	6	121,001,758 (GRCm39)	missense	probably damaging	1.00
R9720:Mical3	UTSW	6	120,935,238 (GRCm39)	missense	probably damaging	0.99
R9777:Mical3	UTSW	6	120,959,529 (GRCm39)	missense	possibly damaging	0.91
U24488:Mical3	UTSW	6	120,978,457 (GRCm39)	missense	possibly damaging	0.90
Z1177:Mical3	UTSW	6	120,936,689 (GRCm39)	missense	possibly damaging	0.71
Z1190:Mical3	UTSW	6	120,998,319 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-01-04