Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02578:Mphosph8'

299278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mphosph8

Ensembl Gene

ENSMUSG00000079184

Gene Name

M-phase phosphoprotein 8

Synonyms

1500035L22Rik, 4930548G07Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

IGL02578

Quality Score

Status

Chromosome

Chromosomal Location

56905705-56934887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56911667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 230 (A230V)

Ref Sequence

ENSEMBL: ENSMUSP00000112170 (fasta)

Gene Model

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

AlphaFold

Q3TYA6

Predicted Effect

probably benign
Transcript: ENSMUST00000116468
AA Change: A230V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: A230V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,023,179 (GRCm39)		probably null	Het
Ago1	T	A	4: 126,333,324 (GRCm39)	D545V	probably benign	Het
Arid2	T	C	15: 96,270,116 (GRCm39)	S1410P	probably benign	Het
Cbfa2t3	T	A	8: 123,360,187 (GRCm39)	D488V	possibly damaging	Het
Cdx2	T	C	5: 147,240,094 (GRCm39)	D194G	probably damaging	Het
Cyp4a32	A	G	4: 115,466,939 (GRCm39)	Q208R	possibly damaging	Het
Degs1	A	C	1: 182,106,592 (GRCm39)	Y222*	probably null	Het
Dnah7a	T	A	1: 53,472,074 (GRCm39)	E3564D	probably benign	Het
Dsg4	A	T	18: 20,604,250 (GRCm39)	I906F	possibly damaging	Het
Elovl3	A	G	19: 46,123,132 (GRCm39)	H236R	possibly damaging	Het
Foxp2	A	G	6: 15,376,814 (GRCm39)		probably benign	Het
Gm9892	A	T	8: 52,649,328 (GRCm39)		noncoding transcript	Het
Herc2	A	G	7: 55,756,283 (GRCm39)		probably null	Het
Hhat	A	G	1: 192,376,221 (GRCm39)	V304A	probably damaging	Het
Il16	C	T	7: 83,327,194 (GRCm39)		probably null	Het
Kansl1l	G	A	1: 66,840,848 (GRCm39)	Q151*	probably null	Het
Kmt2c	G	T	5: 25,571,198 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,412,032 (GRCm39)	N18S	probably benign	Het
Lcor	G	T	19: 41,547,589 (GRCm39)	G391V	probably damaging	Het
Mical2	A	T	7: 111,950,580 (GRCm39)	T845S	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myh2	T	A	11: 67,077,517 (GRCm39)	M884K	probably benign	Het
Nlrp3	T	C	11: 59,439,227 (GRCm39)	L268P	probably damaging	Het
Ntng1	T	A	3: 110,042,710 (GRCm39)	T39S	probably benign	Het
Or10ag58	T	A	2: 87,265,401 (GRCm39)	I190K	probably damaging	Het
Or1j14	A	C	2: 36,418,156 (GRCm39)	H244P	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Pde4b	T	A	4: 102,112,494 (GRCm39)	M26K	possibly damaging	Het
Polh	G	A	17: 46,505,218 (GRCm39)	Q133*	probably null	Het
Postn	A	T	3: 54,284,625 (GRCm39)	N647I	possibly damaging	Het
Scimp	T	A	11: 70,682,387 (GRCm39)	I110F	possibly damaging	Het
Sell	A	G	1: 163,893,165 (GRCm39)	D127G	probably damaging	Het
Serpinb12	G	A	1: 106,883,220 (GRCm39)		probably null	Het
She	A	G	3: 89,739,373 (GRCm39)	E188G	probably damaging	Het
Shisal2a	C	T	4: 108,225,225 (GRCm39)	M112I	probably benign	Het
Slc22a1	T	C	17: 12,886,126 (GRCm39)	Y169C	probably damaging	Het
Slco2a1	C	T	9: 102,923,957 (GRCm39)	T57I	probably damaging	Het
Sox2	A	T	3: 34,704,745 (GRCm39)	M61L	probably benign	Het
Sra1	G	A	18: 36,803,150 (GRCm39)	Q32*	probably null	Het
Syne2	T	A	12: 76,069,053 (GRCm39)	S4340T	possibly damaging	Het
Ucn	A	C	5: 31,295,738 (GRCm39)	W43G	possibly damaging	Het
Xdh	C	T	17: 74,213,241 (GRCm39)	M836I	probably damaging	Het
Xirp2	T	A	2: 67,341,591 (GRCm39)	D1277E	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
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
R8508:Mphosph8	UTSW	14	56,914,003 (GRCm39)	nonsense	probably null
R9428:Mphosph8	UTSW	14	56,934,114 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16