Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Mphosph8'

655719

Institutional Source

Beutler Lab

Gene Symbol

Mphosph8

Ensembl Gene

ENSMUSG00000079184

Gene Name

M-phase phosphoprotein 8

Synonyms

1500035L22Rik, 4930548G07Rik

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56905705-56934887 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56914003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 415 (K415*)

Ref Sequence

ENSEMBL: ENSMUSP00000112170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116468]

AlphaFold

Q3TYA6

Predicted Effect

probably null
Transcript: ENSMUST00000116468
AA Change: K415*

SMART Domains

Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: K415*

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
CHROMO	58	111	6.2e-13	SMART
low complexity region	152	160	N/A	INTRINSIC
coiled coil region	226	256	N/A	INTRINSIC
low complexity region	325	336	N/A	INTRINSIC
low complexity region	405	417	N/A	INTRINSIC
Blast:ANK	563	592	1e-7	BLAST
ANK	598	627	4.43e-2	SMART
ANK	631	660	5.45e-2	SMART
ANK	664	693	1.08e-5	SMART
Blast:ANK	697	726	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130246

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Mphosph8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Mphosph8	APN	14	56,911,900 (GRCm39)	missense	probably benign	0.00
IGL00786:Mphosph8	APN	14	56,910,001 (GRCm39)	missense	probably benign	0.00
IGL01635:Mphosph8	APN	14	56,910,003 (GRCm39)	missense	probably damaging	0.99
IGL02104:Mphosph8	APN	14	56,912,036 (GRCm39)	missense	probably benign	0.02
IGL02387:Mphosph8	APN	14	56,933,178 (GRCm39)	missense	probably damaging	1.00
IGL02486:Mphosph8	APN	14	56,925,844 (GRCm39)	missense	possibly damaging	0.80
IGL02547:Mphosph8	APN	14	56,909,941 (GRCm39)	missense	probably damaging	1.00
IGL02578:Mphosph8	APN	14	56,911,667 (GRCm39)	missense	probably benign
IGL03247:Mphosph8	APN	14	56,916,277 (GRCm39)	critical splice donor site	probably null
IGL03377:Mphosph8	APN	14	56,930,943 (GRCm39)	missense	probably damaging	1.00
R0412:Mphosph8	UTSW	14	56,911,870 (GRCm39)	missense	probably damaging	0.97
R0647:Mphosph8	UTSW	14	56,911,862 (GRCm39)	missense	probably benign
R1079:Mphosph8	UTSW	14	56,911,716 (GRCm39)	missense	probably damaging	1.00
R1451:Mphosph8	UTSW	14	56,905,878 (GRCm39)	missense	possibly damaging	0.62
R1486:Mphosph8	UTSW	14	56,926,496 (GRCm39)	missense	probably damaging	1.00
R1687:Mphosph8	UTSW	14	56,909,935 (GRCm39)	missense	probably damaging	1.00
R1733:Mphosph8	UTSW	14	56,930,916 (GRCm39)	missense	probably damaging	1.00
R1809:Mphosph8	UTSW	14	56,909,909 (GRCm39)	missense	probably damaging	1.00
R1844:Mphosph8	UTSW	14	56,934,616 (GRCm39)	missense	probably damaging	1.00
R2132:Mphosph8	UTSW	14	56,916,161 (GRCm39)	missense	probably benign	0.04
R4242:Mphosph8	UTSW	14	56,911,771 (GRCm39)	missense	probably benign	0.00
R4261:Mphosph8	UTSW	14	56,911,922 (GRCm39)	missense	probably benign	0.00
R4563:Mphosph8	UTSW	14	56,928,457 (GRCm39)	missense	probably benign	0.00
R4962:Mphosph8	UTSW	14	56,916,046 (GRCm39)	missense	probably benign	0.27
R5121:Mphosph8	UTSW	14	56,914,003 (GRCm39)	nonsense	probably null
R6082:Mphosph8	UTSW	14	56,905,998 (GRCm39)	missense	probably damaging	1.00
R6224:Mphosph8	UTSW	14	56,905,810 (GRCm39)	start codon destroyed	probably null
R6455:Mphosph8	UTSW	14	56,925,943 (GRCm39)	missense	probably damaging	1.00
R7086:Mphosph8	UTSW	14	56,905,980 (GRCm39)	missense	possibly damaging	0.94
R7236:Mphosph8	UTSW	14	56,911,754 (GRCm39)	missense	possibly damaging	0.63
R7266:Mphosph8	UTSW	14	56,922,497 (GRCm39)	missense	possibly damaging	0.89
R7564:Mphosph8	UTSW	14	56,911,495 (GRCm39)	missense	probably benign
R8313:Mphosph8	UTSW	14	56,916,062 (GRCm39)	frame shift	probably null
R9428:Mphosph8	UTSW	14	56,934,114 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGAATAGTCTTGGTGGCGG -3'
(R):5'- TTTCATTGAACCAGGAAGAGGAATC -3'

Sequencing Primer
(F):5'- CTTGGTGGCGGGAGGGAG -3'
(R):5'- GAGGAATCAGAAACATTTTTGGTCCC -3'

Posted On

2020-10-20