Mutagenetix > Incidental Mutations

Incidental Mutation 'R5727:Micall1'

452577

Institutional Source

Beutler Lab

Gene Symbol

Micall1

Ensembl Gene

ENSMUSG00000033039

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing -like 1

Synonyms

D15N2e, Mus EST 820961, D15Mit260

MMRRC Submission

043190-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79108898-79136900 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79130478 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 685 (Y685N)

Ref Sequence

ENSEMBL: ENSMUSP00000042053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000187550] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000229031]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040320
AA Change: Y685N

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: Y685N

Domain	Start	End	E-Value	Type
CH	4	103	5.64e-19	SMART
low complexity region	113	135	N/A	INTRINSIC
LIM	164	219	1.15e-5	SMART
low complexity region	241	250	N/A	INTRINSIC
low complexity region	375	394	N/A	INTRINSIC
low complexity region	414	467	N/A	INTRINSIC
low complexity region	477	497	N/A	INTRINSIC
low complexity region	515	530	N/A	INTRINSIC
low complexity region	571	586	N/A	INTRINSIC
DUF3585	685	825	5.07e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169604

SMART Domains

Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	4	213	3.2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186559

Predicted Effect

probably benign
Transcript: ENSMUST00000187550

SMART Domains

Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188562

Predicted Effect

probably benign
Transcript: ENSMUST00000189761

SMART Domains

Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	39	4.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190509

SMART Domains

Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	33	195	4.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190730

SMART Domains

Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190959

SMART Domains

Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	216	1.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230779

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	A	14: 29,990,881	L494M	probably benign	Het
Ahnak	G	T	19: 9,016,747	A5132S	probably damaging	Het
Cadps	G	A	14: 12,486,525	Q882*	probably null	Het
Cdhr2	G	A	13: 54,724,308	V662M	possibly damaging	Het
Cdyl2	T	A	8: 116,583,168	I350F	probably damaging	Het
Cfap44	T	G	16: 44,435,442	F966V	probably damaging	Het
Cpxm1	G	A	2: 130,390,963	R704*	probably null	Het
Dnah11	A	T	12: 118,127,106	F1034L	probably damaging	Het
Dpep2	A	G	8: 105,986,443	V440A	probably benign	Het
Ehmt2	A	T	17: 34,906,032	M11L	possibly damaging	Het
Eml2	C	T	7: 19,190,760	H185Y	probably damaging	Het
Gm10845	T	A	14: 79,863,330		noncoding transcript	Het
Gm8122	T	G	14: 43,234,020	N97T	unknown	Het
Gnb1	A	G	4: 155,555,102	T263A	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ier5l	A	G	2: 30,473,159	C285R	possibly damaging	Het
Kif21b	A	G	1: 136,170,009	N1336D	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lama1	A	G	17: 67,815,224	H2722R	possibly damaging	Het
Mdm2	A	G	10: 117,702,307	M13T	possibly damaging	Het
Mthfd1l	T	G	10: 4,103,302	S884A	possibly damaging	Het
Nkiras2	A	G	11: 100,625,027	Y60C	probably damaging	Het
Oc90	T	G	15: 65,881,539	R342S	possibly damaging	Het
Olfr1181	T	A	2: 88,423,447	I193F	probably benign	Het
Olfr12	A	G	1: 92,620,178	N91D	probably benign	Het
Olfr1277	T	A	2: 111,269,852	R172*	probably null	Het
Olfr350	T	C	2: 36,850,532	L162P	possibly damaging	Het
Olfr748	C	A	14: 50,710,360	T10K	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Parp9	G	T	16: 35,964,097	E507*	probably null	Het
Pex13	A	G	11: 23,655,705	I175T	probably benign	Het
Phf12	A	G	11: 78,023,544	E604G	probably damaging	Het
Ppfia4	A	T	1: 134,324,077		probably null	Het
Rragc	T	C	4: 123,920,035	Y141H	possibly damaging	Het
Slc35g3	A	G	11: 69,760,454	V257A	probably benign	Het
Snx5	T	C	2: 144,260,754	T80A	probably benign	Het
Sorcs2	G	A	5: 36,031,286	A826V	possibly damaging	Het
Sptb	G	A	12: 76,623,114	A480V	probably benign	Het
Tmem161b	T	A	13: 84,286,790	S302R	possibly damaging	Het
Ube2o	A	T	11: 116,539,670	F1081I	probably damaging	Het
Vmn2r2	T	C	3: 64,117,187	I658V	probably benign	Het
Vwa3b	T	G	1: 37,135,519	L672V	probably benign	Het
Wscd2	T	C	5: 113,577,350	F417S	possibly damaging	Het

Other mutations in Micall1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Micall1	APN	15	79115021	splice site	probably benign
IGL00496:Micall1	APN	15	79115021	splice site	probably benign
IGL00508:Micall1	APN	15	79130568	missense	probably damaging	0.99
IGL01626:Micall1	APN	15	79130512	missense	possibly damaging	0.46
IGL01868:Micall1	APN	15	79115060	missense	probably benign	0.41
IGL03062:Micall1	APN	15	79114681	missense	probably damaging	1.00
R0086:Micall1	UTSW	15	79125489	utr 3 prime	probably benign
R0099:Micall1	UTSW	15	79131901	splice site	probably benign
R0282:Micall1	UTSW	15	79131901	splice site	probably benign
R0727:Micall1	UTSW	15	79120778	missense	probably benign	0.00
R1859:Micall1	UTSW	15	79122945	intron	probably benign
R2142:Micall1	UTSW	15	79130795	missense	probably damaging	0.98
R2228:Micall1	UTSW	15	79129836	missense	probably damaging	1.00
R3508:Micall1	UTSW	15	79122765	missense	probably damaging	1.00
R4858:Micall1	UTSW	15	79122946	intron	probably benign
R4888:Micall1	UTSW	15	79131848	nonsense	probably null
R5059:Micall1	UTSW	15	79122834	intron	probably benign
R5097:Micall1	UTSW	15	79129878	missense	probably benign	0.17
R5451:Micall1	UTSW	15	79126904	intron	probably null
R5710:Micall1	UTSW	15	79127090	missense	probably damaging	1.00
R7135:Micall1	UTSW	15	79109424	missense	unknown
R7186:Micall1	UTSW	15	79125375	missense	unknown
R7297:Micall1	UTSW	15	79120897	missense	unknown
R7472:Micall1	UTSW	15	79122560	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTCTGGAGGAGTCTGTCAGATC -3'
(R):5'- AGCTCTGCATTCCCAGGTTG -3'

Sequencing Primer
(F):5'- CAGATCTTGACATGAAGGGTTCC -3'
(R):5'- ATTCCCAGGTTGAGGGGC -3'

Posted On

2017-01-03