Mutagenetix > Incidental Mutation

Incidental Mutation 'R1546:Pxk'

172208

Institutional Source

Beutler Lab

Gene Symbol

Pxk

Ensembl Gene

ENSMUSG00000033885

Gene Name

PX domain containing serine/threonine kinase

Synonyms

MONaKA, D14Ertd813e, C230080L11Rik

MMRRC Submission

039585-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R1546 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

14304656-14371562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8164091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 561 (N561S)

Ref Sequence

ENSEMBL: ENSMUSP00000035265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022268] [ENSMUST00000036682] [ENSMUST00000112689] [ENSMUST00000225653]

AlphaFold

Q8BX57

Predicted Effect

probably benign
Transcript: ENSMUST00000022268

SMART Domains

Protein: ENSMUSP00000022268
Gene: ENSMUSG00000021748

Domain	Start	End	E-Value	Type
Transket_pyr	33	208	3.62e-58	SMART
Pfam:Transketolase_C	226	349	2.4e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036682
AA Change: N561S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: N561S

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

SMART Domains

Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885

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

probably damaging
Transcript: ENSMUST00000225653
AA Change: N562S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225747

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,026,232 (GRCm39)	S251P	probably damaging	Het
Aaas	C	A	15: 102,255,153 (GRCm39)	R79L	probably benign	Het
Acap2	C	A	16: 30,923,754 (GRCm39)	E657*	probably null	Het
Adgrg5	A	T	8: 95,668,258 (GRCm39)	E441V	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
AY358078	C	T	14: 52,057,876 (GRCm39)		probably null	Het
Bco2	A	G	9: 50,461,929 (GRCm39)	V25A	possibly damaging	Het
Bltp1	T	C	3: 36,924,205 (GRCm39)	V10A	possibly damaging	Het
Carf	T	A	1: 60,165,195 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,401,741 (GRCm39)	I134L	probably benign	Het
Cgnl1	A	G	9: 71,633,097 (GRCm39)	S85P	probably benign	Het
Ctsl	A	G	13: 64,515,693 (GRCm39)	V126A	probably damaging	Het
Cwc27	A	C	13: 104,938,693 (GRCm39)	S206A	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,590 (GRCm39)	I1004T	probably damaging	Het
Dgki	A	G	6: 37,027,138 (GRCm39)	V401A	probably damaging	Het
Dpp8	C	T	9: 64,970,775 (GRCm39)	H545Y	possibly damaging	Het
Dpy19l1	A	T	9: 24,386,680 (GRCm39)	C205S	probably damaging	Het
Enpp2	C	T	15: 54,709,225 (GRCm39)	E797K	probably benign	Het
Ephb2	C	T	4: 136,498,320 (GRCm39)	R253H	probably damaging	Het
Esrra	T	C	19: 6,897,665 (GRCm39)	T31A	probably benign	Het
Ewsr1	C	A	11: 5,028,574 (GRCm39)		probably benign	Het
Flt4	G	T	11: 49,522,808 (GRCm39)	R475L	probably benign	Het
Gm13547	A	G	2: 29,653,921 (GRCm39)	E138G	possibly damaging	Het
Gm572	A	T	4: 148,751,276 (GRCm39)	R216S	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hapln2	T	A	3: 87,931,404 (GRCm39)	Y37F	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,302 (GRCm39)		probably benign	Het
Hhla1	C	T	15: 65,805,176 (GRCm39)	A369T	probably benign	Het
Hmg20a	T	A	9: 56,374,685 (GRCm39)	F14I	possibly damaging	Het
Iqca1l	A	T	5: 24,760,426 (GRCm39)		probably null	Het
Itga2	A	T	13: 114,985,956 (GRCm39)	S940T	possibly damaging	Het
Kcnt2	A	G	1: 140,359,116 (GRCm39)	N377S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,981,049 (GRCm39)	S298P	probably benign	Het
Lrp2	C	T	2: 69,332,954 (GRCm39)	G1521D	probably damaging	Het
Mogat2	A	G	7: 98,881,766 (GRCm39)	W57R	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myo1a	A	G	10: 127,548,493 (GRCm39)	D380G	probably damaging	Het
Nufip2	T	A	11: 77,582,432 (GRCm39)	D115E	probably damaging	Het
Ogn	A	T	13: 49,762,809 (GRCm39)	K50N	probably benign	Het
Or5ac20	T	C	16: 59,104,366 (GRCm39)	R165G	probably damaging	Het
Or8c10	A	T	9: 38,278,844 (GRCm39)	M1L	probably benign	Het
Pde8b	G	A	13: 95,182,951 (GRCm39)	T269I	probably damaging	Het
Ppargc1b	A	T	18: 61,443,677 (GRCm39)	D495E	probably damaging	Het
Prdm16	C	A	4: 154,613,117 (GRCm39)	K103N	possibly damaging	Het
Proc	C	T	18: 32,260,463 (GRCm39)	G221S	probably damaging	Het
Rapgef5	A	G	12: 117,610,721 (GRCm39)	N323S	probably benign	Het
Slc6a13	T	G	6: 121,309,333 (GRCm39)	D281E	possibly damaging	Het
Slc8a1	T	C	17: 81,955,676 (GRCm39)	Y454C	probably damaging	Het
Sntg2	C	A	12: 30,338,295 (GRCm39)	L115F	probably damaging	Het
Spata13	A	G	14: 60,993,857 (GRCm39)	D1103G	probably damaging	Het
Supv3l1	G	A	10: 62,268,225 (GRCm39)	A540V	probably benign	Het
Tet1	A	T	10: 62,648,689 (GRCm39)	D1914E	probably damaging	Het
Tmem30a	A	G	9: 79,678,570 (GRCm39)	*329Q	probably null	Het
Tspan5	A	T	3: 138,604,102 (GRCm39)	L162F	probably damaging	Het
Ttn	T	A	2: 76,549,396 (GRCm39)	K31760N	probably damaging	Het
Tyr	A	T	7: 87,087,200 (GRCm39)	D437E	probably benign	Het
Ubr4	T	A	4: 139,144,238 (GRCm39)	L1427*	probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vcan	A	G	13: 89,841,075 (GRCm39)	S1490P	probably damaging	Het
Vcl	T	A	14: 21,059,018 (GRCm39)	C545S	probably damaging	Het
Vmn2r4	C	T	3: 64,314,309 (GRCm39)	G224D	probably damaging	Het
Vmn2r97	T	A	17: 19,168,110 (GRCm39)	V788E	probably damaging	Het
Vrtn	G	A	12: 84,695,282 (GRCm39)	V11M	probably damaging	Het
Zbtb21	A	T	16: 97,753,227 (GRCm39)	V380D	probably damaging	Het
Zcchc14	G	A	8: 122,331,002 (GRCm39)		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
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
R9687:Pxk	UTSW	14	8,151,567 (GRCm38)	missense	possibly damaging	0.56
Z1176:Pxk	UTSW	14	8,146,271 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTGTCTTCAGCATTACCTCCAC -3'
(R):5'- GGCCCCACTGTATTCTATTTGGAGC -3'

Sequencing Primer
(F):5'- tccacctcctccgccac -3'
(R):5'- AAGCCTCCTAACTGGAGTGTG -3'

Posted On

2014-04-13