Mutagenetix > Incidental Mutation

Incidental Mutation 'R6471:Peak1'

516702

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

044604-MU

Accession Numbers

Essential gene?

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

Stock #

R6471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56108410-56325351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56165543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 795 (L795P)

Ref Sequence

ENSEMBL: ENSMUSP00000109901 (fasta)

Gene Model

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

AlphaFold

Q69Z38

Predicted Effect

probably damaging
Transcript: ENSMUST00000061552
AA Change: L795P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: L795P

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

0.1931

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.6%

Validation Efficiency

97% (29/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Birc2	A	G	9: 7,857,421 (GRCm39)	S351P	probably benign	Het
Car9	T	C	4: 43,511,938 (GRCm39)	V319A	probably damaging	Het
Ccdc86	A	G	19: 10,926,243 (GRCm39)	S119P	unknown	Het
Ciao2a	T	A	9: 66,034,139 (GRCm39)	V4E	possibly damaging	Het
Cideb	T	C	14: 55,995,409 (GRCm39)	R26G	probably benign	Het
Clip1	A	G	5: 123,778,612 (GRCm39)	V437A	probably damaging	Het
Cobll1	A	G	2: 64,938,228 (GRCm39)	S352P	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Exoc3l	A	G	8: 106,017,166 (GRCm39)	V607A	probably damaging	Het
Fam227b	A	T	2: 125,962,985 (GRCm39)	V177D	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gdap1	T	A	1: 17,230,249 (GRCm39)	N227K	possibly damaging	Het
Glod4	A	T	11: 76,124,744 (GRCm39)	F185L	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lrrc37	T	A	11: 103,510,448 (GRCm39)		probably benign	Het
Map3k19	C	T	1: 127,744,991 (GRCm39)	V1488M	probably damaging	Het
Pak5	A	T	2: 135,958,110 (GRCm39)	M326K	probably benign	Het
Plcg1	A	G	2: 160,595,630 (GRCm39)	D526G	probably benign	Het
Rapgef6	A	G	11: 54,582,563 (GRCm39)	I1492V	probably damaging	Het
Rbfa	G	T	18: 80,243,673 (GRCm39)	S31*	probably null	Het
Rnft1	T	C	11: 86,382,508 (GRCm39)	Y244H	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Slc6a3	G	A	13: 73,693,003 (GRCm39)	G208R	probably benign	Het
Tex15	G	T	8: 34,071,762 (GRCm39)	Q2436H	probably damaging	Het
Ttbk1	A	G	17: 46,778,203 (GRCm39)	L613P	probably benign	Het
Tuba1b	T	C	15: 98,830,328 (GRCm39)	K164R	probably benign	Het
Usp9y	A	G	Y: 1,384,511 (GRCm39)	L669P	probably damaging	Homo
Vmn1r169	A	G	7: 23,276,970 (GRCm39)	T121A	probably benign	Het
Vmn2r51	A	C	7: 9,836,510 (GRCm39)	D90E	possibly damaging	Het
Zfp318	A	G	17: 46,710,431 (GRCm39)	H718R	probably benign	Het
Zfp93	T	C	7: 23,972,754 (GRCm39)	Y33H	probably 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
R4381:Peak1	UTSW	9	56,165,711 (GRCm39)	missense	probably benign	0.34
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
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'- AGTCACTGGCTTCGTGGATG -3'
(R):5'- GAGGTCAGTCTTCTCCACAAAG -3'

Sequencing Primer
(F):5'- ATGGATCTTTCTGAATTTTGGCAG -3'
(R):5'- TTCTCCACAAAGAAGCTACAGTTC -3'

Posted On

2018-05-21