Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Pxk'

373015

Institutional Source

Beutler Lab

Gene Symbol

Pxk

Ensembl Gene

ENSMUSG00000033885

Gene Name

PX domain containing serine/threonine kinase

Synonyms

MONaKA, D14Ertd813e, C230080L11Rik

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8098211-8165117 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8130653 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 84 (M84K)

Ref Sequence

ENSEMBL: ENSMUSP00000152987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036682] [ENSMUST00000112689] [ENSMUST00000225653]

Predicted Effect

probably benign
Transcript: ENSMUST00000036682
AA Change: M84K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: M84K

Domain	Start	End	E-Value	Type
PX	17	122	1.62e-16	SMART
Pfam:Pkinase	183	441	1.1e-9	PFAM
Pfam:Pkinase_Tyr	185	309	2.5e-7	PFAM
low complexity region	483	536	N/A	INTRINSIC
Pfam:WH2	549	577	1.8e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112689
AA Change: M84K

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

SMART Domains

Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: M84K

Domain	Start	End	E-Value	Type
PX	17	122	1.62e-16	SMART
Pfam:Pkinase_Tyr	185	309	3e-7	PFAM
Pfam:Pkinase	185	441	1.4e-10	PFAM
low complexity region	483	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225616

Predicted Effect

probably damaging
Transcript: ENSMUST00000225653
AA Change: M84K

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

Meta Mutation Damage Score

0.7005

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	Het

Other mutations in Pxk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pxk	APN	14	8130754	missense	probably damaging	1.00
IGL01865:Pxk	APN	14	8136923	missense	possibly damaging	0.94
IGL03171:Pxk	APN	14	8151014	splice site	probably benign
PIT4131001:Pxk	UTSW	14	8152130	missense	probably benign	0.01
R0799:Pxk	UTSW	14	8148123	missense	probably benign	0.02
R1367:Pxk	UTSW	14	8150915	splice site	probably null
R1546:Pxk	UTSW	14	8164091	missense	probably damaging	1.00
R1800:Pxk	UTSW	14	8151507	nonsense	probably null
R1827:Pxk	UTSW	14	8151507	nonsense	probably null
R1828:Pxk	UTSW	14	8151507	nonsense	probably null
R1888:Pxk	UTSW	14	8151540	missense	probably damaging	1.00
R1888:Pxk	UTSW	14	8151540	missense	probably damaging	1.00
R1892:Pxk	UTSW	14	8151507	nonsense	probably null
R1893:Pxk	UTSW	14	8151507	nonsense	probably null
R3766:Pxk	UTSW	14	8136863	splice site	probably benign
R4807:Pxk	UTSW	14	8144133	missense	probably damaging	1.00
R4816:Pxk	UTSW	14	8136893	missense	probably damaging	1.00
R4974:Pxk	UTSW	14	8140734	missense	probably damaging	1.00
R5400:Pxk	UTSW	14	8136911	missense	probably benign	0.45
R6075:Pxk	UTSW	14	8150964	missense	probably benign	0.05
R6144:Pxk	UTSW	14	8138011	missense	probably damaging	0.99
R6211:Pxk	UTSW	14	8163952	missense	probably damaging	0.96
R6997:Pxk	UTSW	14	8122371	missense	probably benign	0.29
R7266:Pxk	UTSW	14	8146220	missense	probably benign	0.00
R7363:Pxk	UTSW	14	8152118	missense	probably benign	0.01
R7949:Pxk	UTSW	14	8144233	missense	probably damaging	1.00
R8302:Pxk	UTSW	14	8164094	missense	probably damaging	1.00
Z1176:Pxk	UTSW	14	8146271	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGCATCTTCAAAGTCTATATTG -3'
(R):5'- AAAGAAACCCTGCCCTGTTGC -3'

Sequencing Primer
(F):5'- CCATCATGCTTCAGGACT -3'
(R):5'- AACCCTGCCCTGTTGCAAATG -3'

Posted On

2016-03-01