Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Peak1'

414755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Peak1

Ensembl Gene

ENSMUSG00000074305

Gene Name

pseudopodium-enriched atypical kinase 1

Synonyms

1110049L02Rik, C230081A13Rik, NKF3 kinase family member

Accession Numbers

Essential gene?

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

Stock #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

56108410-56325351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56167251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 226 (F226L)

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: F226L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: F226L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192330

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Cyp2d11	C	T	15: 82,274,221 (GRCm39)	V387M	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Iqca1	T	C	1: 89,980,156 (GRCm39)	D637G	probably damaging	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Slc4a5	A	G	6: 83,247,979 (GRCm39)	H395R	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het
Vwa7	A	G	17: 35,239,002 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02