Mutagenetix > Incidental Mutation

Incidental Mutation 'R5844:Mis18a'

501947

Institutional Source

Beutler Lab

Gene Symbol

Mis18a

Ensembl Gene

ENSMUSG00000022978

Gene Name

MIS18 kinetochore protein A

Synonyms

2810018N07Rik, 2610039C10Rik

MMRRC Submission

044062-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5844 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90516200-90524259 bp(-) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

G to A at 90523969 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

silent
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181232

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,065 (GRCm39)	M1321L	probably benign	Het
Adra1a	C	T	14: 66,965,183 (GRCm39)	T391I	probably benign	Het
Atf7ip	C	A	6: 136,583,812 (GRCm39)	A1281D	probably damaging	Het
BC005624	T	C	2: 30,866,023 (GRCm39)	N141S	probably benign	Het
Catsperg2	A	T	7: 29,397,257 (GRCm39)	L1082Q	possibly damaging	Het
Cavin2	C	T	1: 51,328,998 (GRCm39)	R152C	probably damaging	Het
Ccdc33	C	T	9: 57,940,489 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,784,135 (GRCm39)	D466G	probably benign	Het
Cfap46	C	A	7: 139,230,858 (GRCm39)	M923I	probably damaging	Het
Chd1l	T	A	3: 97,479,883 (GRCm39)	K621N	probably benign	Het
Cnksr1	A	G	4: 133,955,575 (GRCm39)		probably benign	Het
Cym	T	C	3: 107,127,080 (GRCm39)	H25R	probably benign	Het
Dagla	T	A	19: 10,248,489 (GRCm39)	D57V	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,029,038 (GRCm39)	D684V	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo10	A	T	4: 45,058,760 (GRCm39)	S326T	probably benign	Het
Galntl5	G	T	5: 25,391,091 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,453,232 (GRCm39)	R290G	possibly damaging	Het
Gtpbp3	A	G	8: 71,945,199 (GRCm39)	T425A	probably benign	Het
Hepacam2	A	G	6: 3,476,073 (GRCm39)	I284T	probably damaging	Het
Ifi205	A	C	1: 173,854,258 (GRCm39)		probably null	Het
Irs3	T	C	5: 137,642,548 (GRCm39)	T297A	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,039,036 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,697,542 (GRCm39)	S782G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Myom2	G	A	8: 15,181,182 (GRCm39)		probably null	Het
Ntaq1	A	G	15: 58,017,056 (GRCm39)	N157S	probably benign	Het
Or13a1	A	T	6: 116,470,900 (GRCm39)	E110V	probably damaging	Het
Or5g25	A	G	2: 85,478,239 (GRCm39)	V142A	probably benign	Het
Pde3b	C	T	7: 114,108,106 (GRCm39)	T568I	probably benign	Het
Pip4p1	T	C	14: 51,166,499 (GRCm39)	T160A	probably benign	Het
Pkhd1	G	T	1: 20,451,685 (GRCm39)	D2203E	probably benign	Het
Ppp1r36	A	G	12: 76,473,566 (GRCm39)	K66E	possibly damaging	Het
Rfc1	C	A	5: 65,451,130 (GRCm39)	M319I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Runx1t1	T	C	4: 13,881,068 (GRCm39)	V456A	probably damaging	Het
Rxfp2	A	G	5: 149,966,589 (GRCm39)	K109R	probably benign	Het
Sgo2a	T	G	1: 58,055,556 (GRCm39)	V580G	probably damaging	Het
Skint9	T	C	4: 112,271,080 (GRCm39)	Q110R	probably benign	Het
Slc38a9	A	G	13: 112,868,035 (GRCm39)	Y507C	probably damaging	Het
Smarca4	T	A	9: 21,589,238 (GRCm39)		probably benign	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	A	C	11: 8,384,580 (GRCm39)	F1413V	probably damaging	Het
Trpm8	T	C	1: 88,312,433 (GRCm39)	*1105Q	probably null	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zim1	T	C	7: 6,681,115 (GRCm39)	R183G	probably benign	Het
Zmiz1	T	C	14: 25,657,354 (GRCm39)	S871P	probably damaging	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
R5845:Mis18a	UTSW	16	90,518,522 (GRCm39)	critical splice donor site	probably null
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'- ACTTGTCACTCGTGAGCCAC -3'
(R):5'- CCTTGACCGCTTGTGGTTAAAAC -3'

Sequencing Primer
(F):5'- TCGTGAGCCACCCACAG -3'
(R):5'- GTTAAAACCGCCTGGCTATG -3'

Posted On

2018-01-19