Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Mical3'

517029

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

044612-MU

Accession Numbers

Essential gene?

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

Stock #

R6480 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121011236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 321 (T321A)

Ref Sequence

ENSEMBL: ENSMUSP00000146544 (fasta)

Gene Model

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

AlphaFold

Q8CJ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077159
AA Change: T321A

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: T321A

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: T321A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586
AA Change: T321A

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: T321A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145439
Gene: ENSMUSG00000051586
AA Change: T321A

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: ENSMUST00000204644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204994

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207889
AA Change: T321A

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.4740

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	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
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
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'- GCATTTTCAGAGGCGTACATGC -3'
(R):5'- GTCGGTTTAGGCAGCAAAGC -3'

Sequencing Primer
(F):5'- CGTACATGCAGGTAAAGTCAAAC -3'
(R):5'- GCAAAGCTGATTCACTACCAAC -3'

Posted On

2018-05-21