Mutagenetix > Incidental Mutation

Incidental Mutation 'R6628:Mphosph9'

524900

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

044750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6628 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124389022-124466001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124436825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 506 (N506K)

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

possibly damaging
Transcript: ENSMUST00000031344
AA Change: N476K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: N476K

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

probably benign
Transcript: ENSMUST00000130502

SMART Domains

Protein: ENSMUSP00000120827
Gene: ENSMUSG00000038126

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

probably damaging
Transcript: ENSMUST00000184951
AA Change: N506K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: N506K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200448

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,592,713 (GRCm39)	M565R	probably benign	Het
Cd4	A	G	6: 124,856,431 (GRCm39)	L20P	unknown	Het
Chrm2	G	T	6: 36,500,292 (GRCm39)	V50F	probably damaging	Het
Clasp2	A	G	9: 113,725,788 (GRCm39)	T828A	probably damaging	Het
Clec4a4	A	G	6: 122,989,763 (GRCm39)	K135E	probably benign	Het
Clmn	T	C	12: 104,740,045 (GRCm39)	R961G	probably damaging	Het
Cyp2s1	T	C	7: 25,514,466 (GRCm39)	K64E	probably benign	Het
Dagla	T	C	19: 10,240,591 (GRCm39)	D213G	probably damaging	Het
Dsp	A	T	13: 38,351,598 (GRCm39)	E139V	possibly damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Gtf3c1	A	T	7: 125,267,246 (GRCm39)	D928E	probably benign	Het
Gulo	T	C	14: 66,241,619 (GRCm39)	K80E	probably benign	Het
H2-T9	T	C	17: 36,439,946 (GRCm39)	S63G	possibly damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm39)	Y190C	probably damaging	Homo
Kif27	A	T	13: 58,502,611 (GRCm39)	H22Q	probably damaging	Het
Kmt2c	T	C	5: 25,503,926 (GRCm39)	D383G	probably benign	Het
Lmtk2	A	G	5: 144,111,503 (GRCm39)	E741G	probably benign	Het
Myo16	T	C	8: 10,620,638 (GRCm39)	S1674P	probably damaging	Het
Or5h26	T	C	16: 58,988,344 (GRCm39)	H54R	probably benign	Het
Or8j3c	T	G	2: 86,253,361 (GRCm39)	N220H	probably benign	Het
Pdcd10	A	G	3: 75,428,378 (GRCm39)	V82A	probably damaging	Het
Ptpn11	G	T	5: 121,272,892 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,049,917 (GRCm39)	L475P	probably damaging	Het
Senp6	A	G	9: 80,040,236 (GRCm39)	D781G	probably damaging	Het
Tbc1d5	T	C	17: 51,043,236 (GRCm39)	T751A	probably benign	Het
Tbx18	A	T	9: 87,597,588 (GRCm39)	Y315*	probably null	Het
Wrap53	T	C	11: 69,452,970 (GRCm39)	K446E	probably benign	Het
Wwp1	T	C	4: 19,661,963 (GRCm39)		probably null	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
R1533:Mphosph9	UTSW	5	124,405,204 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGTGGTCCAATAGAAATCACTTTC -3'
(R):5'- GTCACTCTGACACTGACTCG -3'

Sequencing Primer
(F):5'- TTCACTCAGACATCACAAGTCTAG -3'
(R):5'- TGACACTGACTCGTCTTCACAAG -3'

Posted On

2018-06-22