Mutagenetix > Incidental Mutation

Incidental Mutation 'R8937:Micall1'

680755

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

068710-MU

Accession Numbers

Essential gene?

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

Stock #

R8937 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78993098-79021100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79011198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 523 (S523G)

Ref Sequence

ENSEMBL: ENSMUSP00000042053 (fasta)

Gene Model

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

AlphaFold

Q8BGT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000040320
AA Change: S523G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: S523G

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: 99.7%
20x: 99.0%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	C	A	3: 116,762,120 (GRCm39)		probably benign	Het
Actn3	C	T	19: 4,921,798 (GRCm39)		probably null	Het
Akap13	T	A	7: 75,184,601 (GRCm39)		probably null	Het
Akap9	A	T	5: 4,094,048 (GRCm39)	Q2190L	possibly damaging	Het
Ankrd6	A	T	4: 32,823,452 (GRCm39)	V190D	possibly damaging	Het
Atrn	T	A	2: 130,841,157 (GRCm39)	D1186E	probably benign	Het
Bank1	A	T	3: 135,989,934 (GRCm39)	V52E	probably damaging	Het
Blmh	A	G	11: 76,857,883 (GRCm39)	N342D	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ces2f	A	G	8: 105,677,669 (GRCm39)	T225A	probably damaging	Het
Clic6	G	T	16: 92,296,245 (GRCm39)	D302Y	probably damaging	Het
Clmn	T	A	12: 104,763,341 (GRCm39)	N95I	probably damaging	Het
Cmya5	A	T	13: 93,232,840 (GRCm39)	F749L	probably benign	Het
Cramp1	A	G	17: 25,202,956 (GRCm39)	F358L	probably damaging	Het
Dhx38	T	C	8: 110,283,098 (GRCm39)	D573G	probably damaging	Het
Dync1h1	T	C	12: 110,584,471 (GRCm39)	Y625H	probably damaging	Het
Enpep	A	G	3: 129,115,007 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,483,350 (GRCm39)	L3146P	probably damaging	Het
Gal3st2b	G	A	1: 93,868,570 (GRCm39)	S265N	probably benign	Het
Glis3	G	A	19: 28,643,266 (GRCm39)	A92V	possibly damaging	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Hmcn2	A	T	2: 31,204,427 (GRCm39)	M1L	probably benign	Het
Kcnj15	G	A	16: 95,097,548 (GRCm39)		probably benign	Het
Krt27	A	G	11: 99,239,551 (GRCm39)	S310P	probably damaging	Het
Lama2	A	T	10: 26,862,816 (GRCm39)	D2982E	probably damaging	Het
Lrfn3	A	G	7: 30,059,451 (GRCm39)	V258A	probably benign	Het
Lrit3	A	T	3: 129,594,193 (GRCm39)	M128K	probably damaging	Het
Ltbp3	A	G	19: 5,797,512 (GRCm39)	T417A	probably benign	Het
Mettl25	T	C	10: 105,601,122 (GRCm39)	T554A	probably benign	Het
Mmp21	G	A	7: 133,280,700 (GRCm39)	A90V	probably benign	Het
Mon2	T	C	10: 122,895,110 (GRCm39)	N53S	probably benign	Het
Muc15	T	C	2: 110,562,252 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,773,127 (GRCm39)	M431L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5c3	T	C	6: 56,861,701 (GRCm39)	D195G	probably damaging	Het
Or3a1b	T	A	11: 74,012,874 (GRCm39)	M253K	probably benign	Het
Or52h1	A	G	7: 103,828,949 (GRCm39)	L222P	possibly damaging	Het
Pals1	T	A	12: 78,866,115 (GRCm39)	D313E	probably benign	Het
Pgrmc2	A	G	3: 41,037,125 (GRCm39)	L102P	probably damaging	Het
Plekha1	T	G	7: 130,502,241 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,562 (GRCm39)	Y409C	probably damaging	Het
Prss59	A	T	6: 40,902,999 (GRCm39)	Y124*	probably null	Het
Ralgapa1	T	G	12: 55,749,345 (GRCm39)	I1233L	probably damaging	Het
Rb1cc1	T	A	1: 6,333,441 (GRCm39)	D68E	probably benign	Het
Rere	C	A	4: 150,699,331 (GRCm39)		probably benign	Het
Rnf213	A	T	11: 119,321,100 (GRCm39)	H1185L	possibly damaging	Het
Robo2	G	T	16: 73,770,150 (GRCm39)	P529T	probably damaging	Het
Robo2	G	A	16: 73,770,149 (GRCm39)	P529L	probably damaging	Het
Shprh	A	G	10: 11,061,181 (GRCm39)	T1165A	possibly damaging	Het
Slc22a26	C	T	19: 7,768,390 (GRCm39)		probably benign	Het
Slc43a1	T	C	2: 84,690,450 (GRCm39)	L456P	probably damaging	Het
Slc5a8	T	C	10: 88,740,885 (GRCm39)	Y267H	probably damaging	Het
Snrnp200	T	C	2: 127,068,902 (GRCm39)	I927T	probably benign	Het
Sorbs1	T	C	19: 40,362,006 (GRCm39)	D156G	probably benign	Het
Sox5	A	T	6: 143,853,169 (GRCm39)	S370T	probably benign	Het
Spen	T	C	4: 141,201,374 (GRCm39)	T2418A	probably damaging	Het
St8sia6	A	T	2: 13,701,705 (GRCm39)	L104H	probably damaging	Het
Stox1	T	A	10: 62,500,430 (GRCm39)	N710I	probably damaging	Het
Syncrip	T	C	9: 88,344,900 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,051 (GRCm39)	P417S	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tfcp2l1	G	A	1: 118,596,447 (GRCm39)	G394E	possibly damaging	Het
Tial1	A	G	7: 128,056,715 (GRCm39)	I13T	probably damaging	Het
Tmem108	T	C	9: 103,361,981 (GRCm39)	D535G	probably benign	Het
Tpp1	T	C	7: 105,396,626 (GRCm39)	M464V	probably benign	Het
Trrap	C	A	5: 144,757,063 (GRCm39)	N2108K	probably damaging	Het
Tspan3	T	C	9: 56,053,883 (GRCm39)	D156G	probably benign	Het
Ttn	C	T	2: 76,592,607 (GRCm39)	V20842I	probably benign	Het
Ubr4	T	A	4: 139,190,886 (GRCm39)	W4078R	probably damaging	Het
Uts2r	G	A	11: 121,051,795 (GRCm39)	V220M	possibly damaging	Het
Vmn2r19	G	A	6: 123,293,283 (GRCm39)		probably null	Het
Vmn2r3	A	T	3: 64,166,673 (GRCm39)	F819L	probably damaging	Het
Wdtc1	T	C	4: 133,031,470 (GRCm39)	Y250C	probably damaging	Het
Zan	T	C	5: 137,393,888 (GRCm39)	H4521R	unknown	Het
Zfp219	A	T	14: 52,244,224 (GRCm39)	C652S	probably damaging	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
R8714:Micall1	UTSW	15	79,011,510 (GRCm39)	missense	probably benign	0.03
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'- TTGTAACACGGGTCCTTGCAG -3'
(R):5'- TTGTTCACCACTAGGCTGCC -3'

Sequencing Primer
(F):5'- ATGGGGAAGAACTTGGTGTCC -3'
(R):5'- TGCCCTAGCTCCCCAGAAG -3'

Posted On

2021-08-31