Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Mphosph10'

169263

Institutional Source

Beutler Lab

Gene Symbol

Mphosph10

Ensembl Gene

ENSMUSG00000030521

Gene Name

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

Synonyms

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64376527-64392268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64389504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 239 (F239L)

Ref Sequence

ENSEMBL: ENSMUSP00000032735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032735] [ENSMUST00000037205] [ENSMUST00000206194] [ENSMUST00000206882]

AlphaFold

Q810V0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032735
AA Change: F239L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
AA Change: F239L

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: ENSMUST00000037205

SMART Domains

Protein: ENSMUSP00000047855
Gene: ENSMUSG00000033429

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:Glyoxalase	49	175	2.7e-14	PFAM
Pfam:Glyoxalase_3	50	166	5.1e-9	PFAM
Pfam:Glyoxalase_4	51	162	1.2e-20	PFAM
Pfam:Glyoxalase_2	55	175	1.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206138

Predicted Effect

probably benign
Transcript: ENSMUST00000206194

Predicted Effect

probably benign
Transcript: ENSMUST00000206882

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,513,347	S533R	probably benign	Het
Amph	C	T	13: 19,104,291	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,981,180	C845R	probably damaging	Het
Calml4	A	G	9: 62,871,340	K12E	probably benign	Het
Chrd	C	T	16: 20,737,533	R615W	probably damaging	Het
Chst15	T	A	7: 132,269,069	K246*	probably null	Het
Cmtr2	G	A	8: 110,221,603	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,454,324	C186*	probably null	Het
Cyp3a13	G	T	5: 137,911,630		probably null	Het
Dcaf17	A	T	2: 71,081,988	I320F	probably damaging	Het
Ddx10	T	C	9: 53,233,997	I227V	possibly damaging	Het
Dlc1	G	T	8: 36,938,148	N162K	probably benign	Het
Dnhd1	G	A	7: 105,668,463	R455H	probably benign	Het
Drg2	G	T	11: 60,464,853	A306S	probably benign	Het
Dsg1a	A	T	18: 20,332,019	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,716,424	V353A	probably damaging	Het
Emilin2	T	C	17: 71,310,761	S34G	probably benign	Het
Enpp2	C	A	15: 54,839,514	W862L	probably damaging	Het
Exoc2	T	C	13: 30,935,502	I139V	probably benign	Het
Fhad1	C	T	4: 141,964,625	R400H	probably benign	Het
Fv1	C	T	4: 147,870,138	T387M	probably damaging	Het
Gatad1	T	A	5: 3,643,701	D156V	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm4799	G	A	10: 82,954,635		noncoding transcript	Het
Hadha	A	G	5: 30,128,806	F405S	probably benign	Het
Ifit3	T	C	19: 34,588,251	V399A	probably benign	Het
Il1rapl1	G	T	X: 87,304,863	Y150*	probably null	Het
Kirrel	T	C	3: 87,090,472	E248G	probably benign	Het
Krt72	C	A	15: 101,778,334	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,356,832	G309D	probably damaging	Het
Mc3r	T	G	2: 172,249,380	I174S	probably benign	Het
Me3	A	G	7: 89,633,065	D52G	probably benign	Het
Med12l	T	C	3: 59,260,835		probably null	Het
Mgat5	G	A	1: 127,397,641		probably null	Het
Mgea5	T	C	19: 45,778,640	D99G	probably null	Het
Mrps7	T	C	11: 115,604,197	S13P	probably benign	Het
Nexn	T	C	3: 152,237,686	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,156,059	H1156Y	probably damaging	Het
Nostrin	A	G	2: 69,158,785	E120G	probably damaging	Het
Nsun2	A	G	13: 69,631,587	E624G	probably damaging	Het
Olfr1189	G	A	2: 88,592,148	V115I	possibly damaging	Het
Olfr495	A	C	7: 108,396,082	K321Q	probably benign	Het
Olfr503	G	A	7: 108,544,575	V15I	probably benign	Het
Olfr730	A	G	14: 50,187,082	I45T	probably damaging	Het
Phldb2	T	C	16: 45,777,783	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,844,070		probably null	Het
Pikfyve	T	A	1: 65,265,284	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,975,521	F393L	probably benign	Het
Plekhg1	C	A	10: 3,957,361	D759E	probably benign	Het
Plekhm1	A	G	11: 103,387,062	S403P	probably benign	Het
Pop1	T	C	15: 34,510,357	F432L	probably benign	Het
Ptpn13	T	C	5: 103,516,364	I406T	probably benign	Het
Ptpn5	G	T	7: 47,089,875	D185E	probably benign	Het
Rad50	G	T	11: 53,688,151	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,700,163	F613L	probably benign	Het
Sec16a	T	A	2: 26,440,045	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,555,576		probably null	Het
Slc22a3	G	A	17: 12,507,104	T74I	probably benign	Het
Slc23a4	A	G	6: 34,955,122	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,638,562	D869G	possibly damaging	Het
Slc5a11	T	A	7: 123,260,508	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,684,048	A470S	probably benign	Het
Slfn8	A	G	11: 83,003,180	S878P	probably damaging	Het
Smchd1	A	G	17: 71,365,094	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,292,699	L179P	probably damaging	Het
Tbx2	A	G	11: 85,834,796	D191G	probably damaging	Het
Tenm3	A	G	8: 48,343,316	Y485H	probably damaging	Het
Trim12c	T	A	7: 104,340,888		probably benign	Het
Trpc6	A	G	9: 8,610,169	T213A	probably damaging	Het
Upp1	T	A	11: 9,134,708		probably null	Het
Vmn1r46	A	T	6: 89,976,216	I16L	probably benign	Het
Vmn2r75	A	T	7: 86,165,642	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,439,856	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,362,259	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399	K232N	possibly damaging	Het
Zfp280b	T	C	10: 76,039,769	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,235,799	D38G	probably damaging	Het

Other mutations in Mphosph10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Mphosph10	APN	7	64389755	missense	probably benign	0.00
IGL02113:Mphosph10	APN	7	64376807	unclassified	probably benign
IGL02615:Mphosph10	APN	7	64381045	splice site	probably benign
R0280:Mphosph10	UTSW	7	64376703	missense	possibly damaging	0.92
R0372:Mphosph10	UTSW	7	64388855	unclassified	probably benign
R0503:Mphosph10	UTSW	7	64389893	missense	probably benign
R0548:Mphosph10	UTSW	7	64378800	missense	probably benign	0.45
R1158:Mphosph10	UTSW	7	64388859	unclassified	probably benign
R1271:Mphosph10	UTSW	7	64390084	splice site	probably null
R1447:Mphosph10	UTSW	7	64380950	missense	probably damaging	1.00
R1815:Mphosph10	UTSW	7	64392170	missense	probably benign	0.05
R1900:Mphosph10	UTSW	7	64381028	missense	possibly damaging	0.61
R1997:Mphosph10	UTSW	7	64387447	critical splice donor site	probably null
R2058:Mphosph10	UTSW	7	64376751	missense	probably damaging	1.00
R2059:Mphosph10	UTSW	7	64376751	missense	probably damaging	1.00
R2292:Mphosph10	UTSW	7	64385771	missense	probably damaging	1.00
R4658:Mphosph10	UTSW	7	64388974	splice site	probably null
R4817:Mphosph10	UTSW	7	64392221	unclassified	probably benign
R4968:Mphosph10	UTSW	7	64382908	missense	probably damaging	1.00
R5121:Mphosph10	UTSW	7	64389596	missense	probably damaging	1.00
R5187:Mphosph10	UTSW	7	64385820	missense	possibly damaging	0.49
R5304:Mphosph10	UTSW	7	64388984	missense	probably damaging	1.00
R5469:Mphosph10	UTSW	7	64389445	critical splice donor site	probably null
R6179:Mphosph10	UTSW	7	64378781	missense	possibly damaging	0.66
R6360:Mphosph10	UTSW	7	64389955	missense	probably benign	0.00
R6632:Mphosph10	UTSW	7	64385819	missense	probably damaging	1.00
R6996:Mphosph10	UTSW	7	64388921	missense	probably benign	0.07
R8531:Mphosph10	UTSW	7	64384328	missense	possibly damaging	0.66
R8844:Mphosph10	UTSW	7	64377339	missense	probably damaging	0.99
R9705:Mphosph10	UTSW	7	64377283	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GCTCAAATGAGGTCTGAGGCACATTAC -3'
(R):5'- AGCTCCAGGAAATCTGACCCAAGG -3'

Sequencing Primer
(F):5'- GGTCTGAGGCACATTACATTTC -3'
(R):5'- CAGTGATGAAGATTCTGACCTTGAC -3'

Posted On

2014-04-13