Mutagenetix > Incidental Mutation

Incidental Mutation 'R8844:Mphosph10'

674604

Institutional Source

Beutler Lab

Gene Symbol

Mphosph10

Ensembl Gene

ENSMUSG00000030521

Gene Name

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

Synonyms

2810453H10Rik, 5730405D16Rik

MMRRC Submission

068733-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8844 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64026289-64041984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64027087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 575 (K575N)

Ref Sequence

ENSEMBL: ENSMUSP00000032735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032735] [ENSMUST00000163289]

AlphaFold

Q810V0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032735
AA Change: K575N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
AA Change: K575N

Domain	Start	End	E-Value	Type
Pfam:Mpp10	20	654	6.9e-217	PFAM
low complexity region	666	671	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163289

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	600	737	5e-5	SMART
Blast:VRR_NUC	834	867	2e-12	BLAST
VRR_NUC	896	1011	1.99e-37	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,011 (GRCm39)	H89L	possibly damaging	Het
Ahnak	T	C	19: 8,984,254 (GRCm39)	V1846A	probably damaging	Het
Arhgap9	A	T	10: 127,161,015 (GRCm39)	T181S	probably benign	Het
Bmp10	A	G	6: 87,410,681 (GRCm39)	Y158C	probably damaging	Het
Clec14a	A	G	12: 58,315,599 (GRCm39)	C8R	possibly damaging	Het
Cntln	A	G	4: 84,892,234 (GRCm39)	H373R	probably damaging	Het
Cpn2	A	G	16: 30,078,115 (GRCm39)	S529P	probably damaging	Het
Csmd3	T	C	15: 47,604,590 (GRCm39)	N1051S	probably damaging	Het
Csmd3	G	A	15: 48,536,815 (GRCm39)	T129M	probably damaging	Het
F12	T	C	13: 55,568,198 (GRCm39)	H432R	probably damaging	Het
Foxm1	T	C	6: 128,350,439 (GRCm39)	F595S	probably damaging	Het
Foxred2	A	T	15: 77,832,677 (GRCm39)	I410N	probably benign	Het
Fstl5	T	A	3: 76,337,154 (GRCm39)	F238I	possibly damaging	Het
Galnt3	A	G	2: 65,915,636 (GRCm39)	V575A	probably benign	Het
Gpr149	T	A	3: 62,502,572 (GRCm39)	Y428F	probably benign	Het
Gtf2ird1	A	T	5: 134,389,879 (GRCm39)	Y970*	probably null	Het
Hint2	G	C	4: 43,654,343 (GRCm39)	Q157E	probably damaging	Het
Ighe	T	C	12: 113,235,006 (GRCm39)	T385A		Het
Kcnc4	G	A	3: 107,355,396 (GRCm39)	R351C	probably damaging	Het
Kif7	A	G	7: 79,357,280 (GRCm39)	L642S	possibly damaging	Het
Lilra5	T	A	7: 4,241,663 (GRCm39)	V154D	probably damaging	Het
Morc2b	A	G	17: 33,354,742 (GRCm39)	L1010P	probably damaging	Het
Mup7	C	A	4: 60,067,537 (GRCm39)	E193*	probably null	Het
Nbea	T	C	3: 55,998,415 (GRCm39)	T131A	probably damaging	Het
Nostrin	T	C	2: 69,006,060 (GRCm39)	I248T	probably damaging	Het
Nrxn3	A	T	12: 89,153,920 (GRCm39)	I296F	possibly damaging	Het
Odam	A	G	5: 88,037,322 (GRCm39)	E172G	probably damaging	Het
Optn	A	G	2: 5,031,923 (GRCm39)		probably null	Het
Or5ac16	G	C	16: 59,021,929 (GRCm39)	P287A	probably damaging	Het
Osbpl8	T	A	10: 111,112,336 (GRCm39)	Y484N	probably damaging	Het
Patj	A	G	4: 98,480,206 (GRCm39)	N1308D	probably damaging	Het
Pcdhb17	A	T	18: 37,618,801 (GRCm39)	E197V	probably benign	Het
Pcolce2	G	A	9: 95,563,625 (GRCm39)	D204N	possibly damaging	Het
Plxna4	T	G	6: 32,174,026 (GRCm39)	T1190P	probably benign	Het
Pramel22	A	T	4: 143,380,976 (GRCm39)	F349Y	probably damaging	Het
Pzp	T	C	6: 128,500,950 (GRCm39)	Y136C	probably damaging	Het
Scn10a	A	T	9: 119,446,791 (GRCm39)	N1411K	probably damaging	Het
Scube1	A	G	15: 83,561,164 (GRCm39)	C143R	probably damaging	Het
Stau1	T	C	2: 166,793,266 (GRCm39)	T290A	probably benign	Het
Sycp1	T	A	3: 102,772,421 (GRCm39)	K629I	probably damaging	Het
Taf1d	A	G	9: 15,221,324 (GRCm39)	E210G	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem229a	T	C	6: 24,955,187 (GRCm39)	D189G	probably benign	Het
Tmem269	G	A	4: 119,062,876 (GRCm39)	P254S	probably damaging	Het
Top1	T	A	2: 160,563,469 (GRCm39)	F767I	probably damaging	Het
Ube2q2	C	A	9: 55,102,757 (GRCm39)	A331D		Het
Usp1	A	G	4: 98,823,017 (GRCm39)	Y777C	probably damaging	Het
Usp29	A	G	7: 6,964,891 (GRCm39)	N245D	probably benign	Het
Vmn1r212	T	A	13: 23,067,526 (GRCm39)	Q269L	probably benign	Het
Wfdc11	T	A	2: 164,507,373 (GRCm39)	Y28F	probably benign	Het
Wwp2	A	T	8: 108,210,048 (GRCm39)	D142V	probably damaging	Het

Other mutations in Mphosph10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Mphosph10	APN	7	64,039,503 (GRCm39)	missense	probably benign	0.00
IGL02113:Mphosph10	APN	7	64,026,555 (GRCm39)	unclassified	probably benign
IGL02615:Mphosph10	APN	7	64,030,793 (GRCm39)	splice site	probably benign
R0280:Mphosph10	UTSW	7	64,026,451 (GRCm39)	missense	possibly damaging	0.92
R0372:Mphosph10	UTSW	7	64,038,603 (GRCm39)	unclassified	probably benign
R0503:Mphosph10	UTSW	7	64,039,641 (GRCm39)	missense	probably benign
R0548:Mphosph10	UTSW	7	64,028,548 (GRCm39)	missense	probably benign	0.45
R1158:Mphosph10	UTSW	7	64,038,607 (GRCm39)	unclassified	probably benign
R1271:Mphosph10	UTSW	7	64,039,832 (GRCm39)	splice site	probably null
R1447:Mphosph10	UTSW	7	64,030,698 (GRCm39)	missense	probably damaging	1.00
R1501:Mphosph10	UTSW	7	64,039,252 (GRCm39)	missense	probably damaging	1.00
R1815:Mphosph10	UTSW	7	64,041,918 (GRCm39)	missense	probably benign	0.05
R1900:Mphosph10	UTSW	7	64,030,776 (GRCm39)	missense	possibly damaging	0.61
R1997:Mphosph10	UTSW	7	64,037,195 (GRCm39)	critical splice donor site	probably null
R2058:Mphosph10	UTSW	7	64,026,499 (GRCm39)	missense	probably damaging	1.00
R2059:Mphosph10	UTSW	7	64,026,499 (GRCm39)	missense	probably damaging	1.00
R2292:Mphosph10	UTSW	7	64,035,519 (GRCm39)	missense	probably damaging	1.00
R4658:Mphosph10	UTSW	7	64,038,722 (GRCm39)	splice site	probably null
R4817:Mphosph10	UTSW	7	64,041,969 (GRCm39)	unclassified	probably benign
R4968:Mphosph10	UTSW	7	64,032,656 (GRCm39)	missense	probably damaging	1.00
R5121:Mphosph10	UTSW	7	64,039,344 (GRCm39)	missense	probably damaging	1.00
R5187:Mphosph10	UTSW	7	64,035,568 (GRCm39)	missense	possibly damaging	0.49
R5304:Mphosph10	UTSW	7	64,038,732 (GRCm39)	missense	probably damaging	1.00
R5469:Mphosph10	UTSW	7	64,039,193 (GRCm39)	critical splice donor site	probably null
R6179:Mphosph10	UTSW	7	64,028,529 (GRCm39)	missense	possibly damaging	0.66
R6360:Mphosph10	UTSW	7	64,039,703 (GRCm39)	missense	probably benign	0.00
R6632:Mphosph10	UTSW	7	64,035,567 (GRCm39)	missense	probably damaging	1.00
R6996:Mphosph10	UTSW	7	64,038,669 (GRCm39)	missense	probably benign	0.07
R8531:Mphosph10	UTSW	7	64,034,076 (GRCm39)	missense	possibly damaging	0.66
R9705:Mphosph10	UTSW	7	64,027,031 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTAGTTGAGAAACAGCCCAATGC -3'
(R):5'- CGTCTCATCCCTTAGCAGACAG -3'

Sequencing Primer
(F):5'- GTTGAGAAACAGCCCAATGCATACC -3'
(R):5'- CTTAGCAGACAGAGTTCATTCCAGG -3'

Posted On

2021-07-15