Mutagenetix > Incidental Mutation

Incidental Mutation 'R1117:Peak1'

97422

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

039190-MU

Accession Numbers

Essential gene?

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

Stock #

R1117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56108410-56325351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56165702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 742 (T742M)

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: T742M

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: T742M

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,344,487 (GRCm39)	T353I	probably benign	Het
Arpc1b	T	C	5: 145,062,564 (GRCm39)	V226A	possibly damaging	Het
Casz1	C	A	4: 149,019,052 (GRCm39)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,321,085 (GRCm39)	V327M	probably benign	Het
Cntrl	A	G	2: 35,017,985 (GRCm39)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,260 (GRCm39)	D412G	probably benign	Het
Crispld1	T	A	1: 17,819,846 (GRCm39)	N281K	probably benign	Het
Cul3	T	C	1: 80,258,641 (GRCm39)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,700,903 (GRCm39)	T305M	probably damaging	Het
Elp4	T	C	2: 105,672,656 (GRCm39)	D143G	probably benign	Het
Etnppl	A	G	3: 130,428,212 (GRCm39)	I462M	probably benign	Het
Fmo4	A	G	1: 162,631,232 (GRCm39)	V245A	probably benign	Het
Gm4076	A	G	13: 85,275,437 (GRCm39)		noncoding transcript	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,096,484 (GRCm39)	M8I	probably benign	Het
Klk1b22	A	T	7: 43,766,283 (GRCm39)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,953,309 (GRCm39)	I530K	possibly damaging	Het
Muc21	T	C	17: 35,930,920 (GRCm39)		probably benign	Het
Nid2	A	C	14: 19,813,732 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,058 (GRCm39)	F123S	probably damaging	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or9e1	A	G	11: 58,732,641 (GRCm39)	K234E	possibly damaging	Het
Sel1l3	T	A	5: 53,329,949 (GRCm39)	T469S	probably benign	Het
Sez6	A	G	11: 77,865,340 (GRCm39)	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,091,025 (GRCm39)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,707,717 (GRCm39)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Umod	T	C	7: 119,076,529 (GRCm39)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,923,382 (GRCm39)	T43A	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
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

Predicted Primers

PCR Primer
(F):5'- TCACCTTCCCCACTAGACTGAGATG -3'
(R):5'- TCCCCAAGCTAAAGGGTTTTCCAAC -3'

Sequencing Primer
(F):5'- AGTATCTGCATCTGGGGGAAC -3'
(R):5'- GGGTTTTCCAACAGCACAG -3'

Posted On

2014-01-05