Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Mical3'

503398

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

044344-MU

Accession Numbers

Essential gene?

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

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

splice site (1575 bp from exon)

DNA Base Change (assembly)

C to T at 121017478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077159] [ENSMUST00000203254] [ENSMUST00000204248] [ENSMUST00000207889] [ENSMUST00000207968] [ENSMUST00000207993]

AlphaFold

Q8CJ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077159
AA Change: V113I

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: V113I

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

probably benign
Transcript: ENSMUST00000203254
AA Change: V113I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586
AA Change: V113I

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

possibly damaging
Transcript: ENSMUST00000204248
AA Change: V113I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145439
Gene: ENSMUSG00000051586
AA Change: V113I

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

noncoding transcript
Transcript: ENSMUST00000204994

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207889
AA Change: V113I

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably null
Transcript: ENSMUST00000207968

Predicted Effect

probably null
Transcript: ENSMUST00000207993

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032 (GRCm39)	I94F	probably damaging	Het
Bbox1	A	T	2: 110,100,422 (GRCm39)	D258E	probably benign	Het
Catsperb	A	G	12: 101,378,827 (GRCm39)		probably null	Het
Ccdc127	T	C	13: 74,505,040 (GRCm39)	V196A	probably benign	Het
Cd101	A	T	3: 100,925,959 (GRCm39)	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,407,214 (GRCm39)	Y101C	probably damaging	Het
Cep135	C	T	5: 76,772,570 (GRCm39)	L652F	probably benign	Het
Col5a1	G	T	2: 27,922,633 (GRCm39)	V234L	probably benign	Het
Cxcr6	T	C	9: 123,639,073 (GRCm39)	S25P	possibly damaging	Het
Dctn4	C	T	18: 60,679,865 (GRCm39)	Q258*	probably null	Het
Fmnl2	A	T	2: 53,020,457 (GRCm39)	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,672,080 (GRCm39)	K59N	probably benign	Het
Gpr157	T	C	4: 150,186,055 (GRCm39)	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,001,860 (GRCm39)	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,210,169 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,933,838 (GRCm39)	N805K	probably damaging	Het
Ilrun	A	T	17: 27,986,960 (GRCm39)	D255E	probably benign	Het
Itga3	T	C	11: 94,959,717 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,664,351 (GRCm39)		probably null	Het
Kcnip1	G	A	11: 33,595,600 (GRCm39)	T30I	possibly damaging	Het
Lig4	T	C	8: 10,021,585 (GRCm39)	T732A	probably benign	Het
Lmod3	T	A	6: 97,224,262 (GRCm39)	T520S	probably damaging	Het
Megf8	G	A	7: 25,043,145 (GRCm39)	V1356I	possibly damaging	Het
Msi1	T	C	5: 115,573,535 (GRCm39)	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,927,276 (GRCm39)		noncoding transcript	Het
Myo1f	T	A	17: 33,820,044 (GRCm39)	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,619,509 (GRCm39)	I462S	probably damaging	Het
Or2t48	C	T	11: 58,420,090 (GRCm39)	A241T	probably damaging	Het
Or8k23	A	G	2: 86,186,702 (GRCm39)	V8A	probably benign	Het
Pah	C	A	10: 87,419,423 (GRCm39)	Q449K	probably benign	Het
Pced1a	A	G	2: 130,263,839 (GRCm39)	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Psg21	A	G	7: 18,386,270 (GRCm39)	Y239H	probably damaging	Het
Ptprt	T	C	2: 162,109,949 (GRCm39)	Y180C	probably damaging	Het
Raet1d	T	A	10: 22,246,849 (GRCm39)	I59N	probably damaging	Het
Rfx1	T	C	8: 84,819,647 (GRCm39)	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,493,131 (GRCm39)	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Serbp1	T	C	6: 67,249,851 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,082,629 (GRCm39)	H649Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,731 (GRCm39)	D719E	probably benign	Het
Ttc21b	A	T	2: 66,066,698 (GRCm39)	S318R	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,039,806 (GRCm39)	Q187R	probably damaging	Het
Ung	C	T	5: 114,269,438 (GRCm39)	A50V	probably benign	Het
Upk3bl	C	T	5: 136,088,674 (GRCm39)	Q103*	probably null	Het
Usp17le	C	A	7: 104,418,350 (GRCm39)	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,448,758 (GRCm39)	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,222,114 (GRCm39)	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp748	G	A	13: 67,688,923 (GRCm39)	P779L	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
P0028:Mical3	UTSW	6	121,001,650 (GRCm39)	missense	probably benign	0.33
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
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

Predicted Primers

PCR Primer
(F):5'- CCCACTTGGTTAAGAAGGCAGG -3'
(R):5'- TCTGCAAGGACTCAGTGGTC -3'

Sequencing Primer
(F):5'- CACTTGGTTAAGAAGGCAGGTTATAG -3'
(R):5'- ACTCAGTGGTCCGAGTCAG -3'

Posted On

2018-02-27