Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Peak1'

640444

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

067650-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R8259 (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 56166677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 417 (V417A)

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: V417A

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

SMART Domains

Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: V417A

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

probably benign
Transcript: ENSMUST00000186735

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
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
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'- ACATCCACAACGGTATATGGC -3'
(R):5'- CCTTCACAGAAGAGTCACGC -3'

Sequencing Primer
(F):5'- ACAACGGTATATGGCTTACACAG -3'
(R):5'- GCTCTGAAACAGCCAGCAGTTTATC -3'

Posted On

2020-07-28