Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Mphosph9'

674749

Institutional Source

Beutler Lab

Gene Symbol

Mphosph9

Ensembl Gene

ENSMUSG00000038126

Gene Name

M-phase phosphoprotein 9

Synonyms

MPP-9, MPP9, B930097C17Rik, 9630025B04Rik, 4930548D04Rik

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124250959-124327972 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124316146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 96 (V96E)

Ref Sequence

ENSEMBL: ENSMUSP00000138982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031344] [ENSMUST00000130502] [ENSMUST00000141203] [ENSMUST00000147737] [ENSMUST00000184951]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031344

SMART Domains

Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126

Domain	Start	End	E-Value	Type
low complexity region	102	119	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC
coiled coil region	574	736	N/A	INTRINSIC
low complexity region	879	898	N/A	INTRINSIC
low complexity region	957	971	N/A	INTRINSIC
coiled coil region	1040	1105	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000130502
AA Change: W45R

SMART Domains

Protein: ENSMUSP00000120827
Gene: ENSMUSG00000038126
AA Change: W45R

Domain	Start	End	E-Value	Type
low complexity region	47	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141203

Predicted Effect

probably benign
Transcript: ENSMUST00000147737

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184951
AA Change: V96E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: V96E

Domain	Start	End	E-Value	Type
coiled coil region	102	130	N/A	INTRINSIC
low complexity region	132	149	N/A	INTRINSIC
low complexity region	158	170	N/A	INTRINSIC
low complexity region	444	458	N/A	INTRINSIC
coiled coil region	604	766	N/A	INTRINSIC
low complexity region	909	928	N/A	INTRINSIC
low complexity region	987	1001	N/A	INTRINSIC
coiled coil region	1070	1135	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 40,753,709	R4T	probably benign	Het
Alk	T	A	17: 71,949,825	I680F	probably benign	Het
Best3	A	G	10: 116,988,667	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,145,601	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cic	G	A	7: 25,271,206	V121M	probably damaging	Het
Clasp1	C	G	1: 118,578,975	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,864,273	N2482K	possibly damaging	Het
Crebbp	A	G	16: 4,085,027	M2116T	probably benign	Het
Ddn	T	C	15: 98,806,913	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,605,931	T249I	probably benign	Het
Diaph1	A	T	18: 37,854,537	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,180,161	G1547*	probably null	Het
Dvl1	C	T	4: 155,858,154	R626C	possibly damaging	Het
Fam126b	G	T	1: 58,556,554	P55Q	probably damaging	Het
Fam129a	A	G	1: 151,700,178	E351G	probably damaging	Het
Fer1l6	A	C	15: 58,542,163	K13Q	possibly damaging	Het
Fry	G	A	5: 150,386,007	E639K		Het
Gm6408	G	T	5: 146,483,792	V161L	probably benign	Het
Gpatch8	A	T	11: 102,481,184	N509K	unknown	Het
Ints13	T	C	6: 146,556,133	T416A	probably benign	Het
Iqcf6	A	T	9: 106,627,451	M105L	probably damaging	Het
Magi3	C	A	3: 104,015,018	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889	L401Q		Het
Miga2	G	T	2: 30,383,978	R542L	probably damaging	Het
Nek5	T	C	8: 22,123,579	S28G	probably benign	Het
Notch4	A	G	17: 34,584,988		probably benign	Het
Npc1	A	G	18: 12,190,930	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,506,406	R287C	probably damaging	Het
Olfr1333	T	C	4: 118,829,624	D271G	probably damaging	Het
Olfr341	G	A	2: 36,479,471	R220*	probably null	Het
Olfr406	C	T	11: 74,269,617	T76I	probably damaging	Het
Olfr53	G	C	7: 140,652,413	A145P	possibly damaging	Het
Parn	A	T	16: 13,628,406	L343*	probably null	Het
Pax5	T	A	4: 44,691,865	D127V	probably benign	Het
Peak1	C	A	9: 56,207,143	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,217,611	T204I	probably benign	Het
Pid1	A	T	1: 84,115,973	S65T	unknown	Het
Pkn2	A	G	3: 142,820,640	V392A	probably benign	Het
Plekhh2	A	G	17: 84,571,051	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,596,488	L572Q	probably damaging	Het
Pum3	G	A	19: 27,421,313	T279M	probably damaging	Het
Rasa2	A	G	9: 96,576,349	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,832,420	W264*	probably null	Het
Slc35g3	A	T	11: 69,760,573	Y195*	probably null	Het
Slk	T	A	19: 47,619,193	H289Q		Het
Spef2	T	C	15: 9,668,827	S758G	probably benign	Het
Spon2	C	T	5: 33,214,497	A322T	probably benign	Het
Spred2	T	C	11: 20,001,064	L87P	probably benign	Het
Stk10	A	G	11: 32,589,427	D269G		Het
Tex48	T	A	4: 63,612,535		probably benign	Het
Themis2	T	A	4: 132,786,198	H239L	probably damaging	Het
Tle4	T	A	19: 14,516,373	R199*	probably null	Het
Tlr11	C	T	14: 50,362,725	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,136,780	S1T		Het
Vdac1	T	G	11: 52,376,403	S44A		Het
Vill	C	T	9: 119,068,446	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,610,818	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,310,012	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,509,217	M713L	probably benign	Het
Vmn2r61	T	C	7: 42,300,586	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,941,004	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,739,222	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,014,898	N524K	unknown	Het
Zfp958	A	C	8: 4,628,434	H153P	probably damaging	Het

Other mutations in Mphosph9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Mphosph9	APN	5	124262021	missense	probably damaging	1.00
IGL01527:Mphosph9	APN	5	124283624	splice site	probably benign
IGL01784:Mphosph9	APN	5	124265310	splice site	probably benign
IGL01958:Mphosph9	APN	5	124324990	utr 5 prime	probably benign
IGL02020:Mphosph9	APN	5	124258950	missense	probably damaging	0.99
IGL02190:Mphosph9	APN	5	124265425	missense	possibly damaging	0.92
IGL02261:Mphosph9	APN	5	124260087	missense	probably damaging	1.00
IGL02569:Mphosph9	APN	5	124297571	nonsense	probably null
IGL02640:Mphosph9	APN	5	124315500	missense	possibly damaging	0.66
IGL02702:Mphosph9	APN	5	124259989	missense	probably damaging	1.00
IGL02793:Mphosph9	APN	5	124283737	critical splice acceptor site	probably null
IGL02813:Mphosph9	APN	5	124315628	missense	probably benign	0.37
IGL02875:Mphosph9	APN	5	124283737	critical splice acceptor site	probably null
IGL03149:Mphosph9	APN	5	124263011	missense	probably damaging	1.00
PIT4445001:Mphosph9	UTSW	5	124298790	missense	possibly damaging	0.82
R0304:Mphosph9	UTSW	5	124298829	missense	probably benign	0.01
R0437:Mphosph9	UTSW	5	124315568	missense	probably benign	0.27
R0483:Mphosph9	UTSW	5	124306970	nonsense	probably null
R0811:Mphosph9	UTSW	5	124298759	missense	probably damaging	1.00
R0812:Mphosph9	UTSW	5	124298759	missense	probably damaging	1.00
R0942:Mphosph9	UTSW	5	124262037	nonsense	probably null
R1175:Mphosph9	UTSW	5	124315676	missense	possibly damaging	0.94
R1372:Mphosph9	UTSW	5	124283745	splice site	probably null
R1442:Mphosph9	UTSW	5	124265398	missense	possibly damaging	0.62
R1533:Mphosph9	UTSW	5	124267141	missense	probably damaging	1.00
R1959:Mphosph9	UTSW	5	124315701	missense	possibly damaging	0.92
R2036:Mphosph9	UTSW	5	124304211	missense	probably damaging	0.97
R2256:Mphosph9	UTSW	5	124283659	missense	probably benign	0.00
R2919:Mphosph9	UTSW	5	124261006	missense	probably benign	0.22
R2920:Mphosph9	UTSW	5	124261006	missense	probably benign	0.22
R4064:Mphosph9	UTSW	5	124290917	missense	probably damaging	1.00
R4272:Mphosph9	UTSW	5	124304203	missense	probably damaging	0.96
R4430:Mphosph9	UTSW	5	124265446	missense	possibly damaging	0.83
R4883:Mphosph9	UTSW	5	124299045	missense	probably damaging	1.00
R4992:Mphosph9	UTSW	5	124304190	missense	probably damaging	1.00
R5815:Mphosph9	UTSW	5	124315418	missense	probably damaging	1.00
R5993:Mphosph9	UTSW	5	124316098	missense	probably benign	0.40
R6102:Mphosph9	UTSW	5	124297709	missense	possibly damaging	0.86
R6295:Mphosph9	UTSW	5	124320915	missense	possibly damaging	0.46
R6320:Mphosph9	UTSW	5	124324961	missense	probably damaging	0.99
R6628:Mphosph9	UTSW	5	124298762	missense	probably damaging	0.98
R6692:Mphosph9	UTSW	5	124260116	missense	probably damaging	1.00
R6705:Mphosph9	UTSW	5	124290964	missense	possibly damaging	0.83
R6747:Mphosph9	UTSW	5	124297699	missense	possibly damaging	0.93
R6787:Mphosph9	UTSW	5	124261027	missense	probably damaging	0.99
R6850:Mphosph9	UTSW	5	124260956	missense	probably damaging	1.00
R6956:Mphosph9	UTSW	5	124297558	missense	probably damaging	1.00
R7075:Mphosph9	UTSW	5	124320859	missense	probably damaging	0.99
R7604:Mphosph9	UTSW	5	124316117	missense	probably benign	0.01
R7789:Mphosph9	UTSW	5	124315587	missense	probably damaging	1.00
R7808:Mphosph9	UTSW	5	124260946	missense	probably damaging	0.99
R7823:Mphosph9	UTSW	5	124304256	missense	probably damaging	0.99
R7891:Mphosph9	UTSW	5	124290904	missense	probably damaging	1.00
R8210:Mphosph9	UTSW	5	124267111	missense	probably damaging	1.00
R8256:Mphosph9	UTSW	5	124255106	missense	probably damaging	1.00
R8385:Mphosph9	UTSW	5	124312722	missense	probably benign	0.19
R8438:Mphosph9	UTSW	5	124292392	missense	probably benign	0.19
R8692:Mphosph9	UTSW	5	124312812	missense	probably damaging	0.99
R8790:Mphosph9	UTSW	5	124315673	missense	probably damaging	1.00
R8818:Mphosph9	UTSW	5	124324964	nonsense	probably null
R9018:Mphosph9	UTSW	5	124298650	missense	probably benign	0.12
R9208:Mphosph9	UTSW	5	124312791	missense	probably damaging	0.97
R9221:Mphosph9	UTSW	5	124265364	missense	probably benign	0.10
R9603:Mphosph9	UTSW	5	124324952	nonsense	probably null
R9721:Mphosph9	UTSW	5	124298675	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CCTGTATTCGCTGAGAACAAAG -3'
(R):5'- ACCCAGATGGCAGGTTACATC -3'

Sequencing Primer
(F):5'- TCAATGTTAAGAAAAGGCCATGC -3'
(R):5'- GGTACCTGTAATCCCAGAATTGG -3'

Posted On

2021-07-15