Mutagenetix > Incidental Mutation

Incidental Mutation 'R5845:Mis18a'

453588

Institutional Source

Beutler Lab

Gene Symbol

Mis18a

Ensembl Gene

ENSMUSG00000022978

Gene Name

MIS18 kinetochore protein A

Synonyms

2810018N07Rik, 2610039C10Rik

MMRRC Submission

044063-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90516200-90524259 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 90518522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099554]

AlphaFold

Q9CZJ6

Predicted Effect

probably null
Transcript: ENSMUST00000099554

SMART Domains

Protein: ENSMUSP00000097150
Gene: ENSMUSG00000022978

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
Pfam:Yippee-Mis18	52	148	5.1e-30	PFAM
coiled coil region	165	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147546

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

97% (59/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between implantation and placentation, reduced growth of the inner cell mass and degeneration, increased apoptosis, decreased DNA methylation, and abnormal mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,764,146 (GRCm39)	Y928N	probably benign	Het
Amz2	T	C	11: 109,324,755 (GRCm39)	F213S	probably damaging	Het
Cage1	T	A	13: 38,199,682 (GRCm39)	S732C	probably damaging	Het
Ccnf	C	A	17: 24,459,767 (GRCm39)	D229Y	possibly damaging	Het
Cdon	G	T	9: 35,368,762 (GRCm39)	C332F	probably damaging	Het
Clca3b	G	A	3: 144,531,077 (GRCm39)	R758C	possibly damaging	Het
Cyp2ab1	C	T	16: 20,131,082 (GRCm39)	R349H	probably benign	Het
Dock10	C	T	1: 80,483,459 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,078,550 (GRCm39)	Y225N	possibly damaging	Het
Ear2	G	A	14: 44,340,618 (GRCm39)	R92K	probably benign	Het
Eif3c	T	C	7: 126,163,927 (GRCm39)	S39G	probably damaging	Het
Eml3	A	G	19: 8,916,582 (GRCm39)	D701G	probably damaging	Het
Fat3	G	A	9: 16,288,506 (GRCm39)	T339I	probably damaging	Het
Fbn2	T	C	18: 58,186,840 (GRCm39)	D1687G	possibly damaging	Het
Fcnb	C	T	2: 27,969,633 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,706,937 (GRCm39)	E243D	possibly damaging	Het
Fscb	A	G	12: 64,519,558 (GRCm39)	V636A	unknown	Het
Gm6124	A	G	7: 38,869,299 (GRCm39)		noncoding transcript	Het
Hectd4	T	A	5: 121,445,587 (GRCm39)		probably null	Het
Hrnr	A	T	3: 93,239,944 (GRCm39)	H3394L	unknown	Het
Hs1bp3	A	G	12: 8,386,275 (GRCm39)	R226G	probably benign	Het
Ifngr2	T	C	16: 91,351,947 (GRCm39)	V61A	probably benign	Het
Irag2	G	A	6: 145,117,392 (GRCm39)	M376I	probably benign	Het
Kcnk2	T	C	1: 189,009,918 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Mgam	T	A	6: 40,652,257 (GRCm39)	N810K	possibly damaging	Het
Nsmce3	A	G	7: 64,521,936 (GRCm39)	V244A	possibly damaging	Het
Or10ag59	T	C	2: 87,406,367 (GRCm39)	I313T	probably benign	Het
Plxna4	A	T	6: 32,214,711 (GRCm39)	V590D	probably damaging	Het
Prkab1	A	T	5: 116,162,219 (GRCm39)	D30E	probably benign	Het
Rasgrp3	A	T	17: 75,810,142 (GRCm39)	N281Y	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Septin2	T	A	1: 93,426,757 (GRCm39)		probably null	Het
Slc26a6	T	G	9: 108,739,282 (GRCm39)	V609G	possibly damaging	Het
Spta1	T	A	1: 174,068,662 (GRCm39)	M2154K	probably damaging	Het
Stoml2	T	G	4: 43,030,008 (GRCm39)		probably benign	Het
Sult6b1	A	C	17: 79,202,059 (GRCm39)	S148A	probably damaging	Het
Tmem131l	A	G	3: 83,847,860 (GRCm39)	V335A	probably damaging	Het
Tmem221	T	A	8: 72,007,788 (GRCm39)		probably null	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Trpm8	T	C	1: 88,255,902 (GRCm39)	Y186H	probably benign	Het
Trpv1	T	C	11: 73,131,407 (GRCm39)	I7T	probably damaging	Het
Ttc34	T	C	4: 154,949,929 (GRCm39)	S961P	probably benign	Het
Ubr1	T	C	2: 120,734,486 (GRCm39)	D1138G	probably benign	Het
Ubr7	C	T	12: 102,732,571 (GRCm39)	R188C	probably damaging	Het
Uspl1	C	T	5: 149,130,770 (GRCm39)	P118S	probably benign	Het
Vdr	C	A	15: 97,767,647 (GRCm39)	E114D	possibly damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zswim4	T	A	8: 84,943,871 (GRCm39)		probably null	Het

Other mutations in Mis18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0512:Mis18a	UTSW	16	90,523,244 (GRCm39)	missense	possibly damaging	0.77
R0671:Mis18a	UTSW	16	90,517,561 (GRCm39)	missense	possibly damaging	0.84
R5844:Mis18a	UTSW	16	90,523,969 (GRCm39)	synonymous	silent
R6712:Mis18a	UTSW	16	90,524,045 (GRCm39)	missense	possibly damaging	0.72
R6878:Mis18a	UTSW	16	90,518,644 (GRCm39)	missense	probably damaging	0.98
R7249:Mis18a	UTSW	16	90,523,202 (GRCm39)	missense	possibly damaging	0.95
R7467:Mis18a	UTSW	16	90,516,866 (GRCm39)	missense	probably benign	0.00
R8348:Mis18a	UTSW	16	90,523,919 (GRCm39)	nonsense	probably null
R9511:Mis18a	UTSW	16	90,518,525 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAAAGAAAGGTCATACATTTCCTCC -3'
(R):5'- CTCATGGGTTTGAGCAAGGAG -3'

Sequencing Primer
(F):5'- AAGGTCATACATTTCCTCCTACAATC -3'
(R):5'- AGGGTTCTTAAAGAGATTGCTGC -3'

Posted On

2017-02-10