Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03109:Mical3'

419118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mical3

Ensembl Gene

ENSMUSG00000051586

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 3

Synonyms

C130040D16Rik, MICAL-3

Accession Numbers

Essential gene?

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

Stock #

IGL03109

Quality Score

Status

Chromosome

Chromosomal Location

120908668-121107959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120986085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 119 (C119S)

Ref Sequence

ENSEMBL: ENSMUSP00000144882 (fasta)

Gene Model

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

AlphaFold

Q8CJ19

Predicted Effect

probably damaging
Transcript: ENSMUST00000077159
AA Change: C767S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: C767S

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

SMART Domains

Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586

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: ENSMUST00000204302
AA Change: C86S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144972
Gene: ENSMUSG00000051586
AA Change: C86S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205030
AA Change: C119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144882
Gene: ENSMUSG00000051586
AA Change: C119S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207889
AA Change: C767S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000212208
AA Change: C353S

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,473,628 (GRCm39)	S96R	probably benign	Het
Abca6	T	A	11: 110,071,173 (GRCm39)	H1506L	probably damaging	Het
Adgrg1	T	A	8: 95,734,304 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,846,841 (GRCm39)	T424A	probably benign	Het
Birc6	T	A	17: 74,886,329 (GRCm39)	S552R	possibly damaging	Het
Bptf	T	C	11: 106,952,527 (GRCm39)	T2172A	possibly damaging	Het
Commd9	T	C	2: 101,727,515 (GRCm39)	V103A	probably benign	Het
Ctnnal1	T	A	4: 56,839,045 (GRCm39)	D216V	probably damaging	Het
Dcbld2	A	G	16: 58,276,765 (GRCm39)	T519A	probably benign	Het
Dennd6b	T	C	15: 89,069,188 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,841,950 (GRCm39)	T1369A	probably benign	Het
Ect2	T	C	3: 27,199,121 (GRCm39)	T222A	possibly damaging	Het
Eef2k	G	A	7: 120,490,949 (GRCm39)	G523E	probably damaging	Het
Ephb2	T	G	4: 136,498,855 (GRCm39)	T75P	probably damaging	Het
Exo1	A	T	1: 175,727,126 (GRCm39)	N479I	probably damaging	Het
Fign	A	G	2: 63,811,006 (GRCm39)	L88P	possibly damaging	Het
Golgb1	T	A	16: 36,735,973 (GRCm39)	V1740E	possibly damaging	Het
Icos	A	G	1: 61,036,856 (GRCm39)		probably benign	Het
Il6ra	C	A	3: 89,784,165 (GRCm39)	G369*	probably null	Het
Itpr1	A	G	6: 108,394,942 (GRCm39)	D83G	probably damaging	Het
Kdm2a	A	G	19: 4,379,135 (GRCm39)	I560T	probably benign	Het
Lrp1	C	T	10: 127,402,514 (GRCm39)	R2219H	probably benign	Het
Mipol1	G	A	12: 57,411,010 (GRCm39)	R267H	probably benign	Het
Myrip	A	T	9: 120,282,790 (GRCm39)		probably null	Het
Nelfb	G	A	2: 25,091,073 (GRCm39)	L542F	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,873 (GRCm39)	C359R	probably damaging	Het
Noxred1	T	A	12: 87,280,212 (GRCm39)	H40L	probably damaging	Het
Nphp1	A	T	2: 127,610,089 (GRCm39)		probably benign	Het
Or14j8	C	T	17: 38,263,378 (GRCm39)	C179Y	probably damaging	Het
Pank3	T	A	11: 35,668,501 (GRCm39)	F163L	probably benign	Het
Pde10a	T	C	17: 9,148,046 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Rfc3	A	G	5: 151,566,559 (GRCm39)	S297P	probably benign	Het
Serinc1	A	T	10: 57,399,165 (GRCm39)	M246K	probably benign	Het
Slc5a8	C	T	10: 88,742,278 (GRCm39)		probably benign	Het
Tecrl	A	G	5: 83,457,156 (GRCm39)		probably benign	Het
Tex14	A	T	11: 87,434,191 (GRCm39)	E119V	probably damaging	Het
Tmem94	A	G	11: 115,683,224 (GRCm39)	K669R	probably damaging	Het
Tnfrsf4	C	A	4: 156,099,868 (GRCm39)	H130Q	probably damaging	Het
Trav18	G	A	14: 54,069,008 (GRCm39)	A18T	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
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
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

2016-08-02