Mutagenetix > Incidental Mutation

Incidental Mutation 'R1486:Mphosph8'

163494

Institutional Source

Beutler Lab

Gene Symbol

Mphosph8

Ensembl Gene

ENSMUSG00000079184

Gene Name

M-phase phosphoprotein 8

Synonyms

1500035L22Rik, 4930548G07Rik

MMRRC Submission

039539-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R1486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56905705-56934887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56926496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 646 (T646I)

Ref Sequence

ENSEMBL: ENSMUSP00000112170 (fasta)

Gene Model

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

AlphaFold

Q3TYA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000116468
AA Change: T646I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: T646I

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: ENSMUST00000138174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152606

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	A	G	4: 108,705,143 (GRCm39)	E19G	probably benign	Het
A730018C14Rik	T	C	12: 112,382,129 (GRCm39)		noncoding transcript	Het
Acrbp	T	A	6: 125,027,585 (GRCm39)	Y78N	probably damaging	Het
Adamtsl4	T	C	3: 95,589,166 (GRCm39)	S422G	probably benign	Het
Apba2	T	C	7: 64,386,696 (GRCm39)	V429A	probably damaging	Het
Atf6	A	G	1: 170,622,260 (GRCm39)	C454R	probably damaging	Het
Bhlhe40	T	C	6: 108,641,890 (GRCm39)	I278T	probably damaging	Het
Birc6	G	T	17: 74,946,815 (GRCm39)	V2845L	probably damaging	Het
Card11	T	C	5: 140,862,274 (GRCm39)	I1008V	probably benign	Het
Catsperg1	C	A	7: 28,884,920 (GRCm39)	K900N	probably damaging	Het
Cep20	A	G	16: 14,118,004 (GRCm39)	V172A	probably benign	Het
Chek2	T	G	5: 110,989,093 (GRCm39)		probably benign	Het
Dnaaf9	A	G	2: 130,579,338 (GRCm39)	L633P	probably damaging	Het
Dnah9	A	T	11: 65,725,098 (GRCm39)	S4352T	probably damaging	Het
Eif3c	C	T	7: 126,163,893 (GRCm39)	R50Q	probably damaging	Het
Eml6	A	C	11: 29,755,114 (GRCm39)	I887S	possibly damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Grm4	A	G	17: 27,653,691 (GRCm39)	L706P	probably damaging	Het
Irak3	T	C	10: 119,978,966 (GRCm39)	D495G	probably damaging	Het
Itga9	T	G	9: 118,455,518 (GRCm39)	V64G	probably damaging	Het
Iws1	T	C	18: 32,230,309 (GRCm39)	I759T	probably damaging	Het
Kdm3b	T	A	18: 34,967,357 (GRCm39)	F1721I	probably damaging	Het
Lrrc8c	T	A	5: 105,755,395 (GRCm39)	V390E	probably damaging	Het
Mki67	G	A	7: 135,301,449 (GRCm39)	T1195I	probably benign	Het
Ncdn	A	T	4: 126,642,391 (GRCm39)	V422D	probably damaging	Het
Nrg1	T	C	8: 32,308,372 (GRCm39)	E548G	probably damaging	Het
Nt5el	T	C	13: 105,246,291 (GRCm39)	V284A	probably benign	Het
Nup37	T	C	10: 87,984,116 (GRCm39)	Y11H	probably damaging	Het
Or1ad1	G	A	11: 50,875,608 (GRCm39)	V27I	probably benign	Het
Or51f1e	A	T	7: 102,747,637 (GRCm39)	I230F	probably damaging	Het
Or52s19	T	A	7: 103,008,201 (GRCm39)	M67L	possibly damaging	Het
Or8j3c	T	A	2: 86,253,825 (GRCm39)	H65L	probably damaging	Het
Pcgf1	T	G	6: 83,056,107 (GRCm39)	S70R	probably damaging	Het
Potefam1	T	G	2: 111,030,703 (GRCm39)	Q402P	possibly damaging	Het
Prps1l3	C	T	12: 57,285,573 (GRCm39)	A121V	probably benign	Het
Rasal1	T	C	5: 120,792,917 (GRCm39)	Y57H	probably damaging	Het
Rbm12b2	A	G	4: 12,094,841 (GRCm39)	R567G	probably benign	Het
Rep15	T	A	6: 146,934,577 (GRCm39)	F139I	probably damaging	Het
Ros1	T	C	10: 52,048,954 (GRCm39)	Y92C	probably damaging	Het
Sin3b	A	G	8: 73,477,141 (GRCm39)	T803A	probably benign	Het
Skint11	G	A	4: 114,052,015 (GRCm39)		probably null	Het
Sobp	T	G	10: 42,898,518 (GRCm39)	S356R	probably benign	Het
Spats2l	T	C	1: 57,939,970 (GRCm39)	I228T	probably damaging	Het
Sqor	G	A	2: 122,649,565 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,500,415 (GRCm39)	D715G	probably benign	Het
Tln2	C	A	9: 67,219,121 (GRCm39)	G275W	probably damaging	Het
Tmc5	C	T	7: 118,272,655 (GRCm39)	P942S	probably benign	Het
Tor4a	A	T	2: 25,084,691 (GRCm39)	I404N	possibly damaging	Het
Ttc3	G	A	16: 94,248,988 (GRCm39)	R1162Q	probably damaging	Het
Zfp451	T	C	1: 33,816,808 (GRCm39)	K164E	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCACCTGCATGGAGTTGAATC -3'
(R):5'- ACTCTTGCTGGGTCCCTTAGACTG -3'

Sequencing Primer
(F):5'- CATGGAGTTGAATCTGTGAGTC -3'
(R):5'- TTAGACTGAGCATGTCCCATAC -3'

Posted On

2014-03-28