Mutagenetix > Incidental Mutation

Incidental Mutation 'R5299:Mical3'

405564

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

042882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R5299 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120936473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1351 (L1351P)

Ref Sequence

ENSEMBL: ENSMUSP00000146544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207889]

AlphaFold

Q8CJ19

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098457

SMART Domains

Protein: ENSMUSP00000096056
Gene: ENSMUSG00000051586

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
low complexity region	57	80	N/A	INTRINSIC
coiled coil region	114	148	N/A	INTRINSIC
low complexity region	191	225	N/A	INTRINSIC
coiled coil region	238	265	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	582	592	N/A	INTRINSIC
low complexity region	625	637	N/A	INTRINSIC
low complexity region	794	824	N/A	INTRINSIC
low complexity region	861	882	N/A	INTRINSIC
low complexity region	911	929	N/A	INTRINSIC
low complexity region	950	962	N/A	INTRINSIC
DUF3585	968	1110	1.39e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150503

SMART Domains

Protein: ENSMUSP00000115131
Gene: ENSMUSG00000051586

Domain	Start	End	E-Value	Type
SCOP:d1bjt__	41	141	8e-3	SMART
coiled coil region	192	219	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	328	337	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	536	546	N/A	INTRINSIC
low complexity region	579	591	N/A	INTRINSIC
low complexity region	748	778	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203013

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207889
AA Change: L1351P

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000212333
AA Change: L479P

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,381,861 (GRCm39)	I3838V	probably damaging	Het
Arid1a	A	T	4: 133,414,537 (GRCm39)	D1231E	unknown	Het
Atxn1	A	T	13: 45,710,730 (GRCm39)	I734K	probably benign	Het
Axin1	A	G	17: 26,392,708 (GRCm39)	S330G	probably damaging	Het
Bend3	G	A	10: 43,369,686 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,296 (GRCm39)	T88I	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dst	A	G	1: 34,174,173 (GRCm39)	I179M	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Exoc2	A	T	13: 31,055,901 (GRCm39)		probably null	Het
Grk2	T	C	19: 4,342,799 (GRCm39)	E45G	probably damaging	Het
Ift81	T	C	5: 122,745,119 (GRCm39)	Y144C	probably damaging	Het
Ighv1-15	T	C	12: 114,620,998 (GRCm39)	D109G	probably damaging	Het
Igtp	T	C	11: 58,097,959 (GRCm39)	W377R	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map2k6	A	G	11: 110,383,789 (GRCm39)	D145G	probably benign	Het
Mcph1	T	C	8: 18,702,596 (GRCm39)		probably benign	Het
Mdfi	A	G	17: 48,131,759 (GRCm39)	V95A	possibly damaging	Het
Nbas	C	T	12: 13,491,926 (GRCm39)	Q1506*	probably null	Het
Nelfb	A	G	2: 25,100,757 (GRCm39)	V128A	probably benign	Het
Otog	A	G	7: 45,938,275 (GRCm39)	T1995A	probably benign	Het
Ppp1r7	A	T	1: 93,280,348 (GRCm39)	I139L	probably benign	Het
Ppp2r1b	A	G	9: 50,768,340 (GRCm39)	D19G	probably benign	Het
Proca1	T	C	11: 78,096,078 (GRCm39)	S150P	probably damaging	Het
Rhof	A	G	5: 123,258,611 (GRCm39)	V100A	probably damaging	Het
Rsbn1	G	C	3: 103,821,806 (GRCm39)	G14R	probably benign	Het
Serinc1	A	G	10: 57,399,147 (GRCm39)	I252T	probably damaging	Het
Skint4	A	T	4: 111,993,203 (GRCm39)	I309F	possibly damaging	Het
Slc12a3	A	G	8: 95,078,417 (GRCm39)	Y815C	probably damaging	Het
Slc25a24	A	G	3: 109,073,668 (GRCm39)	S424G	probably benign	Het
Spint2	G	A	7: 28,963,151 (GRCm39)	A49V	probably damaging	Het
Traf3ip3	T	A	1: 192,860,483 (GRCm39)	K480*	probably null	Het
Ube2g2	T	C	10: 77,480,379 (GRCm39)	S162P	possibly damaging	Het
Ubxn8	C	A	8: 34,131,947 (GRCm39)	V7L	possibly damaging	Het
Vmn1r200	T	A	13: 22,579,945 (GRCm39)	C249*	probably null	Het
Vmn1r38	T	A	6: 66,753,682 (GRCm39)	T145S	probably benign	Het
Wapl	G	A	14: 34,455,765 (GRCm39)		probably null	Het
Wfdc6a	T	C	2: 164,422,311 (GRCm39)	N96S	possibly damaging	Het
Zfp503	A	G	14: 22,035,507 (GRCm39)	S470P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CATGTTGGAGGAGCTATCATGG -3'
(R):5'- ATACGCTTCCAGCCAGTTCC -3'

Sequencing Primer
(F):5'- AGGAGCTATCATGGAGGCCC -3'
(R):5'- GCCAGTTCCAGCCAAAACATC -3'

Posted On

2016-07-22