Mutagenetix > Incidental Mutation

Incidental Mutation 'R8714:Micall1'

669791

Institutional Source

Beutler Lab

Gene Symbol

Micall1

Ensembl Gene

ENSMUSG00000033039

Gene Name

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

Synonyms

Mus EST 820961, D15Mit260, D15N2e

MMRRC Submission

068568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78993098-79021100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79011510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 627 (A627T)

Ref Sequence

ENSEMBL: ENSMUSP00000042053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040320] [ENSMUST00000229031]

AlphaFold

Q8BGT6

Predicted Effect

probably benign
Transcript: ENSMUST00000040320
AA Change: A627T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: A627T

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: ENSMUST00000229004

Predicted Effect

probably benign
Transcript: ENSMUST00000229031

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,100,093 (GRCm39)	A137T	probably benign	Het
4930474N05Rik	T	A	14: 35,818,456 (GRCm39)	C151*	probably null	Het
Abca4	A	G	3: 121,942,528 (GRCm39)	T1674A	probably benign	Het
Acat3	A	T	17: 13,147,516 (GRCm39)	V167E	probably benign	Het
Alb	T	C	5: 90,608,874 (GRCm39)		probably null	Het
Apol9a	T	C	15: 77,288,942 (GRCm39)	T142A	probably benign	Het
Asb14	C	T	14: 26,623,032 (GRCm39)	P135S	possibly damaging	Het
Asb17	A	G	3: 153,556,313 (GRCm39)	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,420,013 (GRCm39)	I750N	probably damaging	Het
Bard1	T	C	1: 71,069,986 (GRCm39)	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,530,262 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,899,147 (GRCm39)	D9V	possibly damaging	Het
Casp8	A	T	1: 58,872,812 (GRCm39)	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,736,477 (GRCm39)	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,442,482 (GRCm39)	I110M	probably benign	Het
Chid1	T	A	7: 141,093,678 (GRCm39)	K313*	probably null	Het
Col16a1	T	A	4: 129,947,961 (GRCm39)	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,700,998 (GRCm39)	E6*	probably null	Het
Ddx41	T	C	13: 55,682,250 (GRCm39)	Q208R	probably damaging	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,579,682 (GRCm39)	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,292,765 (GRCm39)	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,023,832 (GRCm39)	V71I	probably benign	Het
H2-Q2	T	C	17: 35,562,338 (GRCm39)	L195P	possibly damaging	Het
Hemgn	C	T	4: 46,395,904 (GRCm39)	G444D	probably damaging	Het
Lmtk2	A	G	5: 144,112,876 (GRCm39)	T1199A	probably damaging	Het
Ly75	T	C	2: 60,164,829 (GRCm39)	D783G	probably damaging	Het
Morc2a	C	T	11: 3,625,877 (GRCm39)	T159I	probably benign	Het
Mthfr	C	A	4: 148,126,275 (GRCm39)	N115K	probably damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Mug1	C	T	6: 121,859,681 (GRCm39)	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,087,608 (GRCm39)	D163V	possibly damaging	Het
Or51a43	T	A	7: 103,717,483 (GRCm39)	I252F	probably damaging	Het
Pcnx2	C	T	8: 126,500,546 (GRCm39)	V1515I	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr3	G	T	11: 69,738,838 (GRCm39)	G167C	probably benign	Het
Plxna4	T	A	6: 32,140,379 (GRCm39)	K1670*	probably null	Het
Prb1c	G	A	6: 132,341,051 (GRCm39)	T7I	unknown	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rnf157	C	A	11: 116,237,891 (GRCm39)	A577S	probably benign	Het
Rnf213	C	T	11: 119,359,720 (GRCm39)	S4371L		Het
S1pr1	A	T	3: 115,505,470 (GRCm39)	S375T	probably benign	Het
Spen	T	C	4: 141,215,314 (GRCm39)	N506S	unknown	Het
Sulf1	T	A	1: 12,878,141 (GRCm39)	Y210N	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tg	A	G	15: 66,555,891 (GRCm39)	N861S	probably damaging	Het
Ttc29	A	G	8: 79,060,331 (GRCm39)	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,186,229 (GRCm39)		probably benign	Het
Vmn1r62	C	A	7: 5,678,629 (GRCm39)	Y103*	probably null	Het
Zfp804b	A	T	5: 6,822,378 (GRCm39)	Y228*	probably null	Het

Other mutations in Micall1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Micall1	APN	15	78,999,221 (GRCm39)	splice site	probably benign
IGL00496:Micall1	APN	15	78,999,221 (GRCm39)	splice site	probably benign
IGL00508:Micall1	APN	15	79,014,768 (GRCm39)	missense	probably damaging	0.99
IGL01626:Micall1	APN	15	79,014,712 (GRCm39)	missense	possibly damaging	0.46
IGL01868:Micall1	APN	15	78,999,260 (GRCm39)	missense	probably benign	0.41
IGL03062:Micall1	APN	15	78,998,881 (GRCm39)	missense	probably damaging	1.00
R0086:Micall1	UTSW	15	79,009,689 (GRCm39)	utr 3 prime	probably benign
R0099:Micall1	UTSW	15	79,016,101 (GRCm39)	splice site	probably benign
R0282:Micall1	UTSW	15	79,016,101 (GRCm39)	splice site	probably benign
R0727:Micall1	UTSW	15	79,004,978 (GRCm39)	missense	probably benign	0.00
R1859:Micall1	UTSW	15	79,007,145 (GRCm39)	intron	probably benign
R2142:Micall1	UTSW	15	79,014,995 (GRCm39)	missense	probably damaging	0.98
R2228:Micall1	UTSW	15	79,014,036 (GRCm39)	missense	probably damaging	1.00
R3508:Micall1	UTSW	15	79,006,965 (GRCm39)	missense	probably damaging	1.00
R4858:Micall1	UTSW	15	79,007,146 (GRCm39)	intron	probably benign
R4888:Micall1	UTSW	15	79,016,048 (GRCm39)	nonsense	probably null
R5059:Micall1	UTSW	15	79,007,034 (GRCm39)	intron	probably benign
R5097:Micall1	UTSW	15	79,014,078 (GRCm39)	missense	probably benign	0.17
R5451:Micall1	UTSW	15	79,011,104 (GRCm39)	splice site	probably null
R5710:Micall1	UTSW	15	79,011,290 (GRCm39)	missense	probably damaging	1.00
R5727:Micall1	UTSW	15	79,014,678 (GRCm39)	missense	possibly damaging	0.64
R7135:Micall1	UTSW	15	78,993,624 (GRCm39)	missense	unknown
R7186:Micall1	UTSW	15	79,009,575 (GRCm39)	missense	unknown
R7297:Micall1	UTSW	15	79,005,097 (GRCm39)	missense	unknown
R7472:Micall1	UTSW	15	79,006,760 (GRCm39)	missense	unknown
R8494:Micall1	UTSW	15	79,005,080 (GRCm39)	missense	probably damaging	1.00
R8937:Micall1	UTSW	15	79,011,198 (GRCm39)	missense	probably damaging	1.00
R9440:Micall1	UTSW	15	79,011,159 (GRCm39)	missense
R9760:Micall1	UTSW	15	79,005,032 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTCTGGGAACTCTGTCAC -3'
(R):5'- CATGCTATCAAGGAAGCCAGTG -3'

Sequencing Primer
(F):5'- GGAACTCTGTCACCCCCTCAG -3'
(R):5'- CTATCAAGGAAGCCAGTGAGTGC -3'

Posted On

2021-04-30