Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Nek3'

617367

Institutional Source

Beutler Lab

Gene Symbol

Nek3

Ensembl Gene

ENSMUSG00000031478

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 3

Synonyms

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22128283-22166435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22157190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 139 (V139M)

Ref Sequence

ENSEMBL: ENSMUSP00000033865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000178324]

AlphaFold

Q9R0A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033865
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: V139M

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	444	8e-49	BLAST
low complexity region	471	485	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110730
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: V139M

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	446	1e-48	BLAST
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178324
AA Change: V139M

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

SMART Domains

Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: V139M

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	446	1e-48	BLAST
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927 (GRCm38)	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741 (GRCm38)		probably null	Het
A630010A05Rik	C	T	16: 14,589,246 (GRCm38)	T13I		Het
Acsm5	A	G	7: 119,542,393 (GRCm38)	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759 (GRCm38)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184 (GRCm38)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301 (GRCm38)	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958 (GRCm38)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905 (GRCm38)	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648 (GRCm38)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063 (GRCm38)	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679 (GRCm38)	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838 (GRCm38)	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426 (GRCm38)	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498 (GRCm38)	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330 (GRCm38)	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109 (GRCm38)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591 (GRCm38)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902 (GRCm38)	M1K	probably null	Het
Frs3	T	A	17: 47,703,114 (GRCm38)	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094 (GRCm38)	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222 (GRCm38)	V832I		Het
Gtf2ird2	T	A	5: 134,203,334 (GRCm38)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269 (GRCm38)	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053 (GRCm38)	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457 (GRCm38)	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353 (GRCm38)		probably benign	Het
Itih2	T	C	2: 10,105,652 (GRCm38)	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919 (GRCm38)	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491 (GRCm38)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119 (GRCm38)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477 (GRCm38)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346 (GRCm38)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415 (GRCm38)	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252 (GRCm38)	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724 (GRCm38)	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260 (GRCm38)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815 (GRCm38)		probably null	Het
Olfr1417	T	C	19: 11,828,892 (GRCm38)	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079 (GRCm38)	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296 (GRCm38)	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652 (GRCm38)	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342 (GRCm38)	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784 (GRCm38)	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pde12	A	T	14: 26,665,699 (GRCm38)	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939 (GRCm38)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507 (GRCm38)	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955 (GRCm38)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641 (GRCm38)	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756 (GRCm38)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510 (GRCm38)	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409 (GRCm38)	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582 (GRCm38)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628 (GRCm38)	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623 (GRCm38)	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384 (GRCm38)	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492 (GRCm38)	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539 (GRCm38)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524 (GRCm38)	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514 (GRCm38)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543 (GRCm38)	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417 (GRCm38)	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469 (GRCm38)	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089 (GRCm38)	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984 (GRCm38)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206 (GRCm38)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889 (GRCm38)	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121 (GRCm38)	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714 (GRCm38)	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509 (GRCm38)	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917 (GRCm38)	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750 (GRCm38)	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675 (GRCm38)	P1760H		Het
Zbp1	T	C	2: 173,209,210 (GRCm38)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947 (GRCm38)		probably benign	Het
Zzef1	A	T	11: 72,823,416 (GRCm38)	D244V	probably damaging	Het

Other mutations in Nek3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Nek3	APN	8	22,158,706 (GRCm38)	missense	probably damaging	1.00
IGL01561:Nek3	APN	8	22,129,456 (GRCm38)	missense	probably damaging	0.97
IGL02799:Nek3	APN	8	22,158,719 (GRCm38)	splice site	probably benign
IGL02826:Nek3	APN	8	22,160,368 (GRCm38)	critical splice donor site	probably null
R0001:Nek3	UTSW	8	22,158,612 (GRCm38)	splice site	probably benign
R0390:Nek3	UTSW	8	22,128,729 (GRCm38)	unclassified	probably benign
R1367:Nek3	UTSW	8	22,160,361 (GRCm38)	splice site	probably benign
R1565:Nek3	UTSW	8	22,132,201 (GRCm38)	critical splice acceptor site	probably null
R1758:Nek3	UTSW	8	22,160,262 (GRCm38)	missense	probably damaging	1.00
R1924:Nek3	UTSW	8	22,157,031 (GRCm38)	missense	probably damaging	1.00
R3905:Nek3	UTSW	8	22,133,091 (GRCm38)	missense	probably benign	0.01
R4078:Nek3	UTSW	8	22,132,137 (GRCm38)	missense	probably damaging	1.00
R4089:Nek3	UTSW	8	22,149,913 (GRCm38)	missense	probably damaging	1.00
R4621:Nek3	UTSW	8	22,157,039 (GRCm38)	missense	probably damaging	1.00
R5207:Nek3	UTSW	8	22,132,227 (GRCm38)	intron	probably benign
R5432:Nek3	UTSW	8	22,148,732 (GRCm38)	splice site	probably null
R5790:Nek3	UTSW	8	22,131,298 (GRCm38)	missense	probably damaging	1.00
R5790:Nek3	UTSW	8	22,131,297 (GRCm38)	missense	probably damaging	1.00
R6856:Nek3	UTSW	8	22,129,447 (GRCm38)	missense	probably damaging	1.00
R8056:Nek3	UTSW	8	22,129,343 (GRCm38)	critical splice donor site	probably null
R8129:Nek3	UTSW	8	22,149,892 (GRCm38)	missense	probably damaging	0.99
R8132:Nek3	UTSW	8	22,157,020 (GRCm38)	nonsense	probably null
R9213:Nek3	UTSW	8	22,148,661 (GRCm38)	missense	probably benign	0.00
R9708:Nek3	UTSW	8	22,128,726 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCAGGTTCTCCCAGATTTC -3'
(R):5'- CCAGGCTGGGAAATATGTAGC -3'

Sequencing Primer
(F):5'- TCTGGAGGCACATAATAAGGTGTTCC -3'
(R):5'- GCTGGGAAATATGTAGCTAGCTG -3'

Posted On

2020-01-23