Mutagenetix > Incidental Mutation

Incidental Mutation 'R4381:Peak1'

325336

Institutional Source

Beutler Lab

Gene Symbol

Peak1

Ensembl Gene

ENSMUSG00000074305

Gene Name

pseudopodium-enriched atypical kinase 1

Synonyms

1110049L02Rik, C230081A13Rik, NKF3 kinase family member

MMRRC Submission

041122-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R4381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56108410-56325351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56165711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 739 (A739E)

Ref Sequence

ENSEMBL: ENSMUSP00000109901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061552] [ENSMUST00000186735]

AlphaFold

Q69Z38

Predicted Effect

probably benign
Transcript: ENSMUST00000061552
AA Change: A739E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: A739E

Domain	Start	End	E-Value	Type
low complexity region	247	259	N/A	INTRINSIC
low complexity region	325	336	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC
low complexity region	498	509	N/A	INTRINSIC
low complexity region	845	856	N/A	INTRINSIC
low complexity region	860	878	N/A	INTRINSIC
low complexity region	932	948	N/A	INTRINSIC
Pfam:Pkinase_Tyr	1437	1649	1.5e-6	PFAM
Pfam:Pkinase	1440	1651	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181444

Predicted Effect

probably benign
Transcript: ENSMUST00000186735

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

95% (41/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Dlgap2	A	G	8: 14,896,502 (GRCm39)	I993V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
Eml5	A	G	12: 98,782,214 (GRCm39)	I1359T	possibly damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,832,403 (GRCm39)	W1168R	probably damaging	Het
Ighv1-62-1	T	A	12: 115,350,613 (GRCm39)	H18L	probably benign	Het
Il18r1	A	G	1: 40,510,950 (GRCm39)	I12V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mib2	G	C	4: 155,742,069 (GRCm39)	A234G	possibly damaging	Het
Mtpap	T	C	18: 4,383,223 (GRCm39)	F200S	probably benign	Het
Nacad	T	A	11: 6,550,204 (GRCm39)	T996S	probably benign	Het
Nek9	T	A	12: 85,376,632 (GRCm39)	T250S	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,388,690 (GRCm39)	V310A	probably benign	Het
Or10al3	G	T	17: 38,011,790 (GRCm39)	E76D	probably damaging	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	T	C	14: 30,747,513 (GRCm39)	V33A	probably benign	Het
Pcdha4	A	G	18: 37,085,928 (GRCm39)	E37G	probably damaging	Het
Pdgfc	A	G	3: 81,116,558 (GRCm39)	K304R	probably damaging	Het
Pla2g4c	A	T	7: 13,079,990 (GRCm39)	N433Y	probably damaging	Het
Polrmt	A	C	10: 79,577,642 (GRCm39)	L319R	possibly damaging	Het
Prkaa1	A	T	15: 5,206,289 (GRCm39)	T373S	probably benign	Het
Qars1	G	A	9: 108,387,382 (GRCm39)		probably benign	Het
Ranbp1	G	A	16: 18,065,208 (GRCm39)	L33F	probably damaging	Het
Rpgrip1	C	T	14: 52,387,906 (GRCm39)	P1094L	possibly damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tstd2	T	C	4: 46,119,933 (GRCm39)	K340E	probably benign	Het
Vmn2r45	A	T	7: 8,474,912 (GRCm39)	C705*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zdhhc16	A	G	19: 41,929,093 (GRCm39)	Y232C	possibly damaging	Het
Zfp1	T	A	8: 112,397,083 (GRCm39)	L354Q	probably damaging	Het
Zyg11a	G	A	4: 108,058,517 (GRCm39)	A341V	possibly damaging	Het

Other mutations in Peak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Peak1	APN	9	56,134,610 (GRCm39)	missense	probably damaging	1.00
IGL00544:Peak1	APN	9	56,167,262 (GRCm39)	missense	probably damaging	1.00
IGL01141:Peak1	APN	9	56,165,811 (GRCm39)	missense	probably benign	0.01
IGL01743:Peak1	APN	9	56,166,486 (GRCm39)	missense	probably damaging	1.00
IGL01781:Peak1	APN	9	56,167,349 (GRCm39)	missense	possibly damaging	0.92
IGL01885:Peak1	APN	9	56,167,388 (GRCm39)	missense	probably damaging	1.00
IGL01941:Peak1	APN	9	56,166,059 (GRCm39)	missense	probably damaging	1.00
IGL02455:Peak1	APN	9	56,134,757 (GRCm39)	missense	possibly damaging	0.89
IGL02719:Peak1	APN	9	56,134,490 (GRCm39)	missense	probably damaging	1.00
IGL03247:Peak1	APN	9	56,165,214 (GRCm39)	missense	probably damaging	1.00
IGL03259:Peak1	APN	9	56,167,251 (GRCm39)	missense	probably damaging	1.00
R0060:Peak1	UTSW	9	56,135,107 (GRCm39)	missense	probably damaging	1.00
R0087:Peak1	UTSW	9	56,165,609 (GRCm39)	missense	probably damaging	1.00
R0480:Peak1	UTSW	9	56,165,916 (GRCm39)	missense	probably benign	0.00
R0569:Peak1	UTSW	9	56,167,373 (GRCm39)	missense	probably damaging	1.00
R0605:Peak1	UTSW	9	56,134,382 (GRCm39)	splice site	probably benign
R0865:Peak1	UTSW	9	56,165,116 (GRCm39)	missense	probably benign	0.02
R1117:Peak1	UTSW	9	56,165,702 (GRCm39)	missense	probably benign	0.05
R1922:Peak1	UTSW	9	56,113,971 (GRCm39)	missense	probably damaging	1.00
R1959:Peak1	UTSW	9	56,114,073 (GRCm39)	missense	probably damaging	1.00
R2069:Peak1	UTSW	9	56,166,043 (GRCm39)	missense	probably damaging	1.00
R2083:Peak1	UTSW	9	56,166,233 (GRCm39)	missense	probably damaging	1.00
R2154:Peak1	UTSW	9	56,114,496 (GRCm39)	missense	probably damaging	1.00
R2407:Peak1	UTSW	9	56,166,510 (GRCm39)	missense	probably damaging	1.00
R3832:Peak1	UTSW	9	56,165,667 (GRCm39)	missense	probably benign
R3938:Peak1	UTSW	9	56,167,649 (GRCm39)	missense	probably benign	0.01
R3964:Peak1	UTSW	9	56,167,263 (GRCm39)	missense	probably damaging	1.00
R4192:Peak1	UTSW	9	56,166,025 (GRCm39)	missense	probably damaging	1.00
R4869:Peak1	UTSW	9	56,134,876 (GRCm39)	missense	probably benign	0.06
R4994:Peak1	UTSW	9	56,148,560 (GRCm39)	missense	possibly damaging	0.65
R5062:Peak1	UTSW	9	56,167,573 (GRCm39)	missense	probably damaging	1.00
R5435:Peak1	UTSW	9	56,113,770 (GRCm39)	missense	probably damaging	0.98
R5632:Peak1	UTSW	9	56,165,058 (GRCm39)	missense	probably damaging	1.00
R5643:Peak1	UTSW	9	56,166,039 (GRCm39)	missense	probably damaging	0.99
R5880:Peak1	UTSW	9	56,114,894 (GRCm39)	missense	probably damaging	1.00
R5898:Peak1	UTSW	9	56,114,622 (GRCm39)	missense	probably benign	0.19
R5986:Peak1	UTSW	9	56,166,726 (GRCm39)	missense	probably benign	0.00
R6109:Peak1	UTSW	9	56,166,567 (GRCm39)	missense	probably benign	0.01
R6284:Peak1	UTSW	9	56,167,580 (GRCm39)	missense	probably benign	0.10
R6347:Peak1	UTSW	9	56,165,495 (GRCm39)	missense	probably benign	0.00
R6374:Peak1	UTSW	9	56,164,950 (GRCm39)	missense	probably damaging	1.00
R6471:Peak1	UTSW	9	56,165,543 (GRCm39)	missense	probably damaging	1.00
R6717:Peak1	UTSW	9	56,114,523 (GRCm39)	missense	probably benign	0.00
R7033:Peak1	UTSW	9	56,166,991 (GRCm39)	missense	probably damaging	1.00
R7039:Peak1	UTSW	9	56,165,093 (GRCm39)	missense	probably benign	0.01
R7100:Peak1	UTSW	9	56,166,677 (GRCm39)	missense	probably damaging	1.00
R7604:Peak1	UTSW	9	56,148,491 (GRCm39)	nonsense	probably null
R7868:Peak1	UTSW	9	56,167,754 (GRCm39)	missense	probably damaging	1.00
R7979:Peak1	UTSW	9	56,114,676 (GRCm39)	missense	possibly damaging	0.52
R8258:Peak1	UTSW	9	56,166,677 (GRCm39)	missense	probably damaging	1.00
R8259:Peak1	UTSW	9	56,166,677 (GRCm39)	missense	probably damaging	1.00
R8272:Peak1	UTSW	9	56,166,182 (GRCm39)	missense	probably damaging	1.00
R8324:Peak1	UTSW	9	56,114,760 (GRCm39)	missense	probably damaging	1.00
R8516:Peak1	UTSW	9	56,167,284 (GRCm39)	missense	probably damaging	1.00
R8847:Peak1	UTSW	9	56,114,427 (GRCm39)	missense	probably damaging	1.00
R8895:Peak1	UTSW	9	56,113,938 (GRCm39)	missense	probably benign
R9082:Peak1	UTSW	9	56,165,504 (GRCm39)	missense	probably benign	0.07
R9138:Peak1	UTSW	9	56,164,925 (GRCm39)	missense	probably benign	0.34
R9355:Peak1	UTSW	9	56,167,454 (GRCm39)	missense	probably damaging	1.00
R9548:Peak1	UTSW	9	56,113,917 (GRCm39)	missense	probably benign	0.19
R9591:Peak1	UTSW	9	56,166,834 (GRCm39)	missense	possibly damaging	0.48
R9642:Peak1	UTSW	9	56,167,205 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGAGATTTGGGTCTGACTGG -3'
(R):5'- CCCCAAGCTAAAGGGTTTTCC -3'

Sequencing Primer
(F):5'- GGGAACGGCATAAAGCTCTTCC -3'
(R):5'- GCTAAAGGGTTTTCCAACAGC -3'

Posted On

2015-07-06