Mutagenetix > Incidental Mutation

Incidental Mutation 'R1527:Mical3'

166284

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

039567-MU

Accession Numbers

Essential gene?

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

Stock #

R1527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121001740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 584 (D584G)

Ref Sequence

ENSEMBL: ENSMUSP00000146544 (fasta)

Gene Model

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

AlphaFold

Q8CJ19

Predicted Effect

probably damaging
Transcript: ENSMUST00000077159
AA Change: D584G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: D584G

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

possibly damaging
Transcript: ENSMUST00000203254
AA Change: D584G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586
AA Change: D584G

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 damaging
Transcript: ENSMUST00000204248
AA Change: D584G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145439
Gene: ENSMUSG00000051586
AA Change: D584G

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: D19G

Predicted Effect

probably damaging
Transcript: ENSMUST00000207889
AA Change: D584G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204994

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	A	19: 21,575,633 (GRCm39)	C130F	probably damaging	Het
4933402N03Rik	T	C	7: 130,740,589 (GRCm39)	D209G	probably benign	Het
Adam7	A	G	14: 68,738,970 (GRCm39)	V744A	probably benign	Het
Atr	G	T	9: 95,752,096 (GRCm39)	R571I	possibly damaging	Het
C5ar1	A	G	7: 15,982,118 (GRCm39)	Y301H	probably damaging	Het
Cacna1d	A	G	14: 29,829,753 (GRCm39)	I954T	probably damaging	Het
Ccdc157	A	G	11: 4,101,795 (GRCm39)	F42S	probably damaging	Het
Cfap251	T	C	5: 123,425,408 (GRCm39)	V789A	probably benign	Het
Chd2	A	T	7: 73,140,362 (GRCm39)	L622*	probably null	Het
Csmd3	T	C	15: 47,811,483 (GRCm39)	T1203A	probably benign	Het
Cxcl17	A	G	7: 25,101,636 (GRCm39)	V67A	possibly damaging	Het
Ddx4	T	C	13: 112,758,773 (GRCm39)	T263A	possibly damaging	Het
Eps8l1	A	G	7: 4,474,393 (GRCm39)	D288G	probably benign	Het
Fbxl4	A	G	4: 22,386,154 (GRCm39)	K254E	probably benign	Het
Glis1	T	C	4: 107,425,123 (GRCm39)	S245P	probably damaging	Het
Gm11111	T	C	5: 98,701,387 (GRCm39)		probably benign	Het
Haus3	A	T	5: 34,311,397 (GRCm39)	H544Q	probably benign	Het
Hmcn1	A	G	1: 150,649,554 (GRCm39)	V644A	probably benign	Het
Lmo7	T	C	14: 102,114,264 (GRCm39)	L2P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mga	A	G	2: 119,747,078 (GRCm39)	T410A	probably damaging	Het
Miga1	A	T	3: 152,023,300 (GRCm39)	F250L	possibly damaging	Het
Mroh1	A	G	15: 76,336,463 (GRCm39)	D1553G	probably benign	Het
Myof	T	C	19: 37,913,067 (GRCm39)	Y1462C	probably damaging	Het
Notch4	T	C	17: 34,784,718 (GRCm39)	C144R	probably damaging	Het
Obox1	T	C	7: 15,289,250 (GRCm39)	V55A	probably damaging	Het
Or14j8	T	A	17: 38,263,720 (GRCm39)	H65L	possibly damaging	Het
Or4a69	C	T	2: 89,312,876 (GRCm39)	G201D	probably benign	Het
Or6c69c	T	A	10: 129,911,061 (GRCm39)	S261T	probably damaging	Het
Pclo	T	C	5: 14,729,662 (GRCm39)		probably benign	Het
Prr14l	C	T	5: 32,985,293 (GRCm39)	V1401I	possibly damaging	Het
Rad51ap1	T	C	6: 126,905,130 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,698,818 (GRCm39)	V1105D	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgsm2	A	T	11: 74,744,674 (GRCm39)	C848*	probably null	Het
Slc39a10	A	T	1: 46,858,422 (GRCm39)	V625E	probably benign	Het
Spry4	C	T	18: 38,723,630 (GRCm39)	M44I	probably benign	Het
Stat5b	A	T	11: 100,699,220 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,070 (GRCm39)	I201T	probably benign	Het
Tasor	T	C	14: 27,202,050 (GRCm39)		probably null	Het
Tex44	A	G	1: 86,355,368 (GRCm39)	T426A	probably benign	Het
Tln2	T	C	9: 67,179,950 (GRCm39)	D807G	possibly damaging	Het
Tlr9	A	G	9: 106,100,949 (GRCm39)	N80S	probably benign	Het
Trpm7	A	C	2: 126,672,082 (GRCm39)	H579Q	probably benign	Het
Ufd1	T	C	16: 18,633,661 (GRCm39)	S29P	probably damaging	Het
Ugt2a3	G	T	5: 87,473,457 (GRCm39)	Q487K	probably damaging	Het
Zfyve9	A	G	4: 108,552,964 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGACTTCCCTGATGCACAGGC -3'
(R):5'- CCCCGGAAGATGCAAGATTCTCTAC -3'

Sequencing Primer
(F):5'- CCTGATGCACAGGCAGGAG -3'
(R):5'- CGAGGGAGACCTATAGTCATTTC -3'

Posted On

2014-04-13