Mutagenetix > Incidental Mutation

Incidental Mutation 'R1533:Mphosph9'

166736

Institutional Source

Beutler Lab

Gene Symbol

Mphosph9

Ensembl Gene

ENSMUSG00000038126

Gene Name

M-phase phosphoprotein 9

Synonyms

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

MMRRC Submission

039572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124389022-124466001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124405204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 789 (K789R)

Ref Sequence

ENSEMBL: ENSMUSP00000138982 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031344
AA Change: K759R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: K759R

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

noncoding transcript
Transcript: ENSMUST00000128027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142498

Predicted Effect

probably benign
Transcript: ENSMUST00000147737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156745

Predicted Effect

probably damaging
Transcript: ENSMUST00000184951
AA Change: K789R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: K789R

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,928,807 (GRCm39)	G1340A	probably benign	Het
Ambra1	T	A	2: 91,717,210 (GRCm39)	Y836N	probably damaging	Het
Arhgap26	A	T	18: 39,504,130 (GRCm39)	H144L	probably benign	Het
B3gnt5	A	G	16: 19,588,364 (GRCm39)	I194M	probably damaging	Het
Bltp1	G	T	3: 37,095,524 (GRCm39)	G4509V	probably damaging	Het
Bod1l	A	T	5: 41,979,498 (GRCm39)	C605*	probably null	Het
C2cd3	G	T	7: 100,055,284 (GRCm39)	K482N	possibly damaging	Het
Cd300lg	T	A	11: 101,934,047 (GRCm39)	L98Q	probably damaging	Het
Cerkl	T	A	2: 79,171,701 (GRCm39)	I386F	possibly damaging	Het
Cfh	T	A	1: 140,028,716 (GRCm39)	D466V	possibly damaging	Het
Crtc1	A	T	8: 70,850,949 (GRCm39)	I221N	probably damaging	Het
Ctnnbl1	T	C	2: 157,678,563 (GRCm39)	S389P	probably benign	Het
Ctsb	A	T	14: 63,376,544 (GRCm39)	D258V	probably damaging	Het
Cuzd1	G	T	7: 130,913,432 (GRCm39)	T395N	probably damaging	Het
Dnah6	T	C	6: 73,128,536 (GRCm39)	T1240A	probably benign	Het
Dok7	T	A	5: 35,221,671 (GRCm39)		probably null	Het
Dscaml1	T	C	9: 45,361,882 (GRCm39)	V214A	probably damaging	Het
Enpp6	A	T	8: 47,518,469 (GRCm39)	Y199F	probably benign	Het
Entpd5	C	A	12: 84,441,434 (GRCm39)	K111N	probably damaging	Het
Fam98a	A	G	17: 75,848,276 (GRCm39)	L146S	probably damaging	Het
Fhod3	A	T	18: 25,248,921 (GRCm39)	I1367F	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fpr3	T	A	17: 18,190,922 (GRCm39)	Y64*	probably null	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Gcsh	T	A	8: 117,715,921 (GRCm39)	H54L	probably damaging	Het
Gsdma	T	A	11: 98,567,210 (GRCm39)	S437T	unknown	Het
Gzmc	A	G	14: 56,471,376 (GRCm39)	V55A	probably damaging	Het
Hecw2	T	A	1: 53,965,704 (GRCm39)		probably null	Het
Ifi207	A	G	1: 173,555,306 (GRCm39)	V792A	probably benign	Het
Itpr3	C	A	17: 27,314,534 (GRCm39)	N661K	possibly damaging	Het
Jmy	A	T	13: 93,577,819 (GRCm39)	I783N	probably benign	Het
Kcmf1	T	C	6: 72,820,003 (GRCm39)	E281G	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lgr6	T	A	1: 135,032,670 (GRCm39)	Y70F	possibly damaging	Het
Lnx1	T	G	5: 74,780,678 (GRCm39)	D330A	probably damaging	Het
Lrp5	T	C	19: 3,664,234 (GRCm39)	N106S	probably benign	Het
Mamdc4	C	A	2: 25,459,759 (GRCm39)	R135L	possibly damaging	Het
Mcm3ap	A	G	10: 76,340,121 (GRCm39)	E1464G	probably damaging	Het
Megf8	T	C	7: 25,034,280 (GRCm39)	V666A	possibly damaging	Het
Mettl3	T	A	14: 52,534,385 (GRCm39)	E331D	probably benign	Het
Mtf2	T	C	5: 108,239,995 (GRCm39)	L234P	probably damaging	Het
Ncdn	C	A	4: 126,642,491 (GRCm39)	E389*	probably null	Het
Ndor1	A	G	2: 25,139,279 (GRCm39)	S231P	probably damaging	Het
Nelfa	T	G	5: 34,056,215 (GRCm39)	K483Q	probably damaging	Het
Odad1	T	A	7: 45,592,282 (GRCm39)	M354K	probably benign	Het
Opn1sw	C	T	6: 29,378,923 (GRCm39)	R243Q	probably benign	Het
Or13a24	T	A	7: 140,155,034 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,792 (GRCm39)	N284S	probably damaging	Het
Pik3cd	T	C	4: 149,739,653 (GRCm39)	E584G	probably damaging	Het
Plcb3	A	T	19: 6,935,041 (GRCm39)	M870K	possibly damaging	Het
Poc5	A	G	13: 96,528,152 (GRCm39)	D16G	probably damaging	Het
Prpf40a	A	G	2: 53,035,852 (GRCm39)	I633T	probably damaging	Het
Ptpn13	G	T	5: 103,704,044 (GRCm39)	E1359*	probably null	Het
Ptprr	C	A	10: 116,024,113 (GRCm39)	Y4*	probably null	Het
Rbm45	T	C	2: 76,202,503 (GRCm39)		probably null	Het
Rfng	C	T	11: 120,672,687 (GRCm39)	W320*	probably null	Het
Rgs6	G	T	12: 83,138,547 (GRCm39)	V294L	probably benign	Het
Rufy4	T	C	1: 74,169,002 (GRCm39)		probably null	Het
Ruvbl2	T	A	7: 45,073,566 (GRCm39)	N313I	probably damaging	Het
Sema4g	G	A	19: 44,981,256 (GRCm39)	V70M	probably damaging	Het
Siglec1	T	C	2: 130,918,078 (GRCm39)	T969A	probably benign	Het
Slc22a27	T	A	19: 7,844,348 (GRCm39)	T431S	possibly damaging	Het
Slc25a16	G	A	10: 62,756,643 (GRCm39)	R38H	probably damaging	Het
Slc38a6	T	C	12: 73,391,626 (GRCm39)	V296A	probably benign	Het
Slc39a11	C	T	11: 113,196,748 (GRCm39)	V212I	probably damaging	Het
Sltm	A	G	9: 70,493,948 (GRCm39)	K782E	probably damaging	Het
Styxl1	T	A	5: 135,799,175 (GRCm39)	Y23F	probably damaging	Het
Svs4	T	C	2: 164,120,148 (GRCm39)	I20V	unknown	Het
Syt14	G	T	1: 192,613,084 (GRCm39)	T572K	possibly damaging	Het
Tbc1d5	A	T	17: 51,227,603 (GRCm39)	I214N	possibly damaging	Het
Tm9sf3	A	G	19: 41,227,223 (GRCm39)	S283P	probably benign	Het
Tmtc1	C	T	6: 148,147,208 (GRCm39)		probably null	Het
Ttll7	T	A	3: 146,602,422 (GRCm39)	N73K	probably damaging	Het
Ttn	T	A	2: 76,602,802 (GRCm39)	K18473N	probably damaging	Het
Ubr2	A	C	17: 47,278,173 (GRCm39)	Y721*	probably null	Het
Vmn1r14	T	A	6: 57,211,286 (GRCm39)	I288N	probably damaging	Het
Vmn2r103	T	C	17: 19,993,662 (GRCm39)	I13T	probably benign	Het
Vps13a	A	T	19: 16,678,494 (GRCm39)	Y1162*	probably null	Het
Vps51	C	A	19: 6,121,497 (GRCm39)	R175L	probably benign	Het
Zfp523	C	A	17: 28,423,473 (GRCm39)	S149R	probably benign	Het
Zik1	A	G	7: 10,224,053 (GRCm39)	I348T	possibly damaging	Het
Znfx1	T	A	2: 166,898,708 (GRCm39)	H72L	probably benign	Het

Other mutations in Mphosph9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Mphosph9	APN	5	124,400,084 (GRCm39)	missense	probably damaging	1.00
IGL01527:Mphosph9	APN	5	124,421,687 (GRCm39)	splice site	probably benign
IGL01784:Mphosph9	APN	5	124,403,373 (GRCm39)	splice site	probably benign
IGL01958:Mphosph9	APN	5	124,463,053 (GRCm39)	utr 5 prime	probably benign
IGL02020:Mphosph9	APN	5	124,397,013 (GRCm39)	missense	probably damaging	0.99
IGL02190:Mphosph9	APN	5	124,403,488 (GRCm39)	missense	possibly damaging	0.92
IGL02261:Mphosph9	APN	5	124,398,150 (GRCm39)	missense	probably damaging	1.00
IGL02569:Mphosph9	APN	5	124,435,634 (GRCm39)	nonsense	probably null
IGL02640:Mphosph9	APN	5	124,453,563 (GRCm39)	missense	possibly damaging	0.66
IGL02702:Mphosph9	APN	5	124,398,052 (GRCm39)	missense	probably damaging	1.00
IGL02793:Mphosph9	APN	5	124,421,800 (GRCm39)	critical splice acceptor site	probably null
IGL02813:Mphosph9	APN	5	124,453,691 (GRCm39)	missense	probably benign	0.37
IGL02875:Mphosph9	APN	5	124,421,800 (GRCm39)	critical splice acceptor site	probably null
IGL03149:Mphosph9	APN	5	124,401,074 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Mphosph9	UTSW	5	124,436,853 (GRCm39)	missense	possibly damaging	0.82
R0304:Mphosph9	UTSW	5	124,436,892 (GRCm39)	missense	probably benign	0.01
R0437:Mphosph9	UTSW	5	124,453,631 (GRCm39)	missense	probably benign	0.27
R0483:Mphosph9	UTSW	5	124,445,033 (GRCm39)	nonsense	probably null
R0811:Mphosph9	UTSW	5	124,436,822 (GRCm39)	missense	probably damaging	1.00
R0812:Mphosph9	UTSW	5	124,436,822 (GRCm39)	missense	probably damaging	1.00
R0942:Mphosph9	UTSW	5	124,400,100 (GRCm39)	nonsense	probably null
R1175:Mphosph9	UTSW	5	124,453,739 (GRCm39)	missense	possibly damaging	0.94
R1372:Mphosph9	UTSW	5	124,421,808 (GRCm39)	splice site	probably null
R1442:Mphosph9	UTSW	5	124,403,461 (GRCm39)	missense	possibly damaging	0.62
R1959:Mphosph9	UTSW	5	124,453,764 (GRCm39)	missense	possibly damaging	0.92
R2036:Mphosph9	UTSW	5	124,442,274 (GRCm39)	missense	probably damaging	0.97
R2256:Mphosph9	UTSW	5	124,421,722 (GRCm39)	missense	probably benign	0.00
R2919:Mphosph9	UTSW	5	124,399,069 (GRCm39)	missense	probably benign	0.22
R2920:Mphosph9	UTSW	5	124,399,069 (GRCm39)	missense	probably benign	0.22
R4064:Mphosph9	UTSW	5	124,428,980 (GRCm39)	missense	probably damaging	1.00
R4272:Mphosph9	UTSW	5	124,442,266 (GRCm39)	missense	probably damaging	0.96
R4430:Mphosph9	UTSW	5	124,403,509 (GRCm39)	missense	possibly damaging	0.83
R4883:Mphosph9	UTSW	5	124,437,108 (GRCm39)	missense	probably damaging	1.00
R4992:Mphosph9	UTSW	5	124,442,253 (GRCm39)	missense	probably damaging	1.00
R5815:Mphosph9	UTSW	5	124,453,481 (GRCm39)	missense	probably damaging	1.00
R5993:Mphosph9	UTSW	5	124,454,161 (GRCm39)	missense	probably benign	0.40
R6102:Mphosph9	UTSW	5	124,435,772 (GRCm39)	missense	possibly damaging	0.86
R6295:Mphosph9	UTSW	5	124,458,978 (GRCm39)	missense	possibly damaging	0.46
R6320:Mphosph9	UTSW	5	124,463,024 (GRCm39)	missense	probably damaging	0.99
R6628:Mphosph9	UTSW	5	124,436,825 (GRCm39)	missense	probably damaging	0.98
R6692:Mphosph9	UTSW	5	124,398,179 (GRCm39)	missense	probably damaging	1.00
R6705:Mphosph9	UTSW	5	124,429,027 (GRCm39)	missense	possibly damaging	0.83
R6747:Mphosph9	UTSW	5	124,435,762 (GRCm39)	missense	possibly damaging	0.93
R6787:Mphosph9	UTSW	5	124,399,090 (GRCm39)	missense	probably damaging	0.99
R6850:Mphosph9	UTSW	5	124,399,019 (GRCm39)	missense	probably damaging	1.00
R6956:Mphosph9	UTSW	5	124,435,621 (GRCm39)	missense	probably damaging	1.00
R7075:Mphosph9	UTSW	5	124,458,922 (GRCm39)	missense	probably damaging	0.99
R7604:Mphosph9	UTSW	5	124,454,180 (GRCm39)	missense	probably benign	0.01
R7789:Mphosph9	UTSW	5	124,453,650 (GRCm39)	missense	probably damaging	1.00
R7808:Mphosph9	UTSW	5	124,399,009 (GRCm39)	missense	probably damaging	0.99
R7823:Mphosph9	UTSW	5	124,442,319 (GRCm39)	missense	probably damaging	0.99
R7891:Mphosph9	UTSW	5	124,428,967 (GRCm39)	missense	probably damaging	1.00
R8210:Mphosph9	UTSW	5	124,405,174 (GRCm39)	missense	probably damaging	1.00
R8256:Mphosph9	UTSW	5	124,393,169 (GRCm39)	missense	probably damaging	1.00
R8385:Mphosph9	UTSW	5	124,450,785 (GRCm39)	missense	probably benign	0.19
R8438:Mphosph9	UTSW	5	124,430,455 (GRCm39)	missense	probably benign	0.19
R8692:Mphosph9	UTSW	5	124,450,875 (GRCm39)	missense	probably damaging	0.99
R8790:Mphosph9	UTSW	5	124,453,736 (GRCm39)	missense	probably damaging	1.00
R8818:Mphosph9	UTSW	5	124,463,027 (GRCm39)	nonsense	probably null
R8847:Mphosph9	UTSW	5	124,454,209 (GRCm39)	missense	possibly damaging	0.91
R9018:Mphosph9	UTSW	5	124,436,713 (GRCm39)	missense	probably benign	0.12
R9208:Mphosph9	UTSW	5	124,450,854 (GRCm39)	missense	probably damaging	0.97
R9221:Mphosph9	UTSW	5	124,403,427 (GRCm39)	missense	probably benign	0.10
R9603:Mphosph9	UTSW	5	124,463,015 (GRCm39)	nonsense	probably null
R9721:Mphosph9	UTSW	5	124,436,738 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CCATCTGCATCTCTACAAAAGCCTTCC -3'
(R):5'- GCCTTGAGCACCTGACTCTTCC -3'

Sequencing Primer
(F):5'- TCTCTACAAAAGCCTTCCTCAGC -3'
(R):5'- gttcaagtcccagcatccc -3'

Posted On

2014-04-13