Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Pxk'

728932

Institutional Source

Beutler Lab

Gene Symbol

Pxk

Ensembl Gene

ENSMUSG00000033885

Gene Name

PX domain containing serine/threonine kinase

Synonyms

MONaKA, D14Ertd813e, C230080L11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14304656-14371562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8151567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 461 (I461V)

Ref Sequence

ENSEMBL: ENSMUSP00000035265 (fasta)

Gene Model

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

AlphaFold

Q8BX57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036682
AA Change: I461V

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: I461V

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 benign
Transcript: ENSMUST00000112689
AA Change: I461V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: I461V

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

possibly damaging
Transcript: ENSMUST00000225653
AA Change: I461V

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,249 (GRCm39)	L446P	probably damaging	Het
Abcc9	T	C	6: 142,578,889 (GRCm39)	T927A	probably benign	Het
Abraxas2	A	G	7: 132,482,577 (GRCm39)	T258A	probably benign	Het
Akna	A	T	4: 63,292,674 (GRCm39)	C1078*	probably null	Het
Arhgap24	T	A	5: 102,994,022 (GRCm39)	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,041 (GRCm39)	T61I	probably benign	Het
Crebrf	A	G	17: 26,982,601 (GRCm39)	*654W	probably null	Het
Dchs1	C	A	7: 105,407,191 (GRCm39)	R2134L	probably damaging	Het
Dcps	T	C	9: 35,035,978 (GRCm39)	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,848,190 (GRCm39)	E527K	probably damaging	Het
Dnah14	T	A	1: 181,425,978 (GRCm39)	M174K	probably benign	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Entrep1	A	G	19: 23,957,029 (GRCm39)	I327T	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etv1	T	C	12: 38,911,361 (GRCm39)	Y396H	probably damaging	Het
Fbxo11	A	G	17: 88,316,494 (GRCm39)	I293T		Het
Gcfc2	T	A	6: 81,918,323 (GRCm39)	S338T	probably damaging	Het
Gm10272	T	C	10: 77,542,764 (GRCm39)	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gna14	G	A	19: 16,582,350 (GRCm39)	R206Q		Het
Gpm6a	T	C	8: 55,503,209 (GRCm39)	Y153H	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 37,125,147 (GRCm39)	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,318,005 (GRCm39)	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546 (GRCm39)	L138P	probably damaging	Het
Kif26a	A	G	12: 112,143,625 (GRCm39)	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,402,562 (GRCm39)	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncor1	A	T	11: 62,260,193 (GRCm39)	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,479,670 (GRCm39)	V575A	probably damaging	Het
Or2y15	T	C	11: 49,350,518 (GRCm39)	F4S	probably benign	Het
Or5m8	G	T	2: 85,822,220 (GRCm39)	V20L	probably benign	Het
Or7a35	T	A	10: 78,853,843 (GRCm39)	I229N	probably damaging	Het
Osbpl5	A	G	7: 143,247,598 (GRCm39)	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,711,036 (GRCm39)	D93V	probably damaging	Het
Ppef2	T	A	5: 92,386,746 (GRCm39)	D397V	probably benign	Het
Ppfia4	G	A	1: 134,245,694 (GRCm39)	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978 (GRCm39)	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rab18	T	A	18: 6,784,622 (GRCm39)	N104K	probably benign	Het
Sars1	A	G	3: 108,343,221 (GRCm39)	L90P	probably benign	Het
Scaf8	T	A	17: 3,221,410 (GRCm39)	I299N	unknown	Het
Sh3bp2	C	T	5: 34,716,977 (GRCm39)	P463S	probably benign	Het
Slc12a3	A	G	8: 95,075,208 (GRCm39)	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,938,796 (GRCm39)	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,545,960 (GRCm39)	Y35C	possibly damaging	Het
Spmip2	G	A	3: 79,337,299 (GRCm39)	D36N	possibly damaging	Het
Susd4	A	G	1: 182,722,762 (GRCm39)		probably null	Het
Taar7f	G	A	10: 23,925,727 (GRCm39)	R107K	probably benign	Het
Tarm1	T	C	7: 3,544,457 (GRCm39)	T237A	probably benign	Het
Tshr	C	A	12: 91,504,439 (GRCm39)	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,475,327 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,174,920 (GRCm39)	V1916A	unknown	Het
Unc45b	A	G	11: 82,810,562 (GRCm39)	D274G	probably damaging	Het
Vmn1r230	T	A	17: 21,067,604 (GRCm39)	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,775,332 (GRCm39)	Q132K		Het
Zbtb20	A	G	16: 43,430,160 (GRCm39)	S151G	possibly damaging	Het
Zbtb22	A	C	17: 34,136,850 (GRCm39)	T332P	probably damaging	Het
Zc3h6	A	G	2: 128,859,281 (GRCm39)	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,690,471 (GRCm39)	V263A	probably benign	Het
Zhx3	A	C	2: 160,623,678 (GRCm39)	V163G	probably benign	Het

Other mutations in Pxk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pxk	APN	14	8,130,754 (GRCm38)	missense	probably damaging	1.00
IGL01865:Pxk	APN	14	8,136,923 (GRCm38)	missense	possibly damaging	0.94
IGL03171:Pxk	APN	14	8,151,014 (GRCm38)	splice site	probably benign
PIT4131001:Pxk	UTSW	14	8,152,130 (GRCm38)	missense	probably benign	0.01
R0799:Pxk	UTSW	14	8,148,123 (GRCm38)	missense	probably benign	0.02
R1367:Pxk	UTSW	14	8,150,915 (GRCm38)	splice site	probably null
R1546:Pxk	UTSW	14	8,164,091 (GRCm38)	missense	probably damaging	1.00
R1800:Pxk	UTSW	14	8,151,507 (GRCm38)	nonsense	probably null
R1827:Pxk	UTSW	14	8,151,507 (GRCm38)	nonsense	probably null
R1828:Pxk	UTSW	14	8,151,507 (GRCm38)	nonsense	probably null
R1888:Pxk	UTSW	14	8,151,540 (GRCm38)	missense	probably damaging	1.00
R1888:Pxk	UTSW	14	8,151,540 (GRCm38)	missense	probably damaging	1.00
R1892:Pxk	UTSW	14	8,151,507 (GRCm38)	nonsense	probably null
R1893:Pxk	UTSW	14	8,151,507 (GRCm38)	nonsense	probably null
R3766:Pxk	UTSW	14	8,136,863 (GRCm38)	splice site	probably benign
R4807:Pxk	UTSW	14	8,144,133 (GRCm38)	missense	probably damaging	1.00
R4816:Pxk	UTSW	14	8,136,893 (GRCm38)	missense	probably damaging	1.00
R4833:Pxk	UTSW	14	8,130,653 (GRCm38)	missense	probably damaging	1.00
R4974:Pxk	UTSW	14	8,140,734 (GRCm38)	missense	probably damaging	1.00
R5400:Pxk	UTSW	14	8,136,911 (GRCm38)	missense	probably benign	0.45
R6075:Pxk	UTSW	14	8,150,964 (GRCm38)	missense	probably benign	0.05
R6144:Pxk	UTSW	14	8,138,011 (GRCm38)	missense	probably damaging	0.99
R6211:Pxk	UTSW	14	8,163,952 (GRCm38)	missense	probably damaging	0.96
R6997:Pxk	UTSW	14	8,122,371 (GRCm38)	missense	probably benign	0.29
R7266:Pxk	UTSW	14	8,146,220 (GRCm38)	missense	probably benign	0.00
R7363:Pxk	UTSW	14	8,152,118 (GRCm38)	missense	probably benign	0.01
R7949:Pxk	UTSW	14	8,144,233 (GRCm38)	missense	probably damaging	1.00
R8302:Pxk	UTSW	14	8,164,094 (GRCm38)	missense	probably damaging	1.00
R8754:Pxk	UTSW	14	8,151,496 (GRCm38)	missense	probably damaging	0.98
R9250:Pxk	UTSW	14	8,144,123 (GRCm38)	missense	probably damaging	1.00
R9670:Pxk	UTSW	14	8,140,748 (GRCm38)	critical splice donor site	probably null
Z1176:Pxk	UTSW	14	8,146,271 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATCCCAAGAGCTTAATGTGGTC -3'
(R):5'- TCTACTGAACAGGAGCAGGG -3'

Sequencing Primer
(F):5'- GTCAAACACATAGAAGTCTCCTTGGG -3'
(R):5'- CAGACTGGGGCAGAGGCTG -3'

Posted On

2022-10-06