Mutagenetix > Incidental Mutation

Incidental Mutation 'R9213:Nek3'

699001

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22618299-22656451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22638677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 207 (N207S)

Ref Sequence

ENSEMBL: ENSMUSP00000033865 (fasta)

Gene Model

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

AlphaFold

Q9R0A5

Predicted Effect

probably benign
Transcript: ENSMUST00000033865
AA Change: N207S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: N207S

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 benign
Transcript: ENSMUST00000110730
AA Change: N207S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: N207S

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 benign
Transcript: ENSMUST00000178324
AA Change: N207S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: N207S

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: 99.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	A	13: 104,581,440 (GRCm39)	C852S	probably damaging	Het
Arf1	A	G	11: 59,104,186 (GRCm39)	V43A	probably damaging	Het
Arhgef26	T	A	3: 62,340,000 (GRCm39)	M674K	probably benign	Het
Asb1	A	C	1: 91,482,531 (GRCm39)	K314N	probably damaging	Het
Aste1	T	C	9: 105,274,294 (GRCm39)	F178S	probably damaging	Het
Avl9	T	C	6: 56,720,441 (GRCm39)	F493S	probably damaging	Het
BC024139	T	C	15: 76,009,422 (GRCm39)	Y220C	probably benign	Het
Ccdc60	T	C	5: 116,328,185 (GRCm39)	E93G	probably damaging	Het
Cep112	A	G	11: 108,377,779 (GRCm39)	H295R	probably benign	Het
Chd3	T	C	11: 69,255,628 (GRCm39)	K87E	possibly damaging	Het
Chordc1	G	T	9: 18,223,789 (GRCm39)		probably null	Het
Ciita	A	T	16: 10,319,742 (GRCm39)	D55V	probably damaging	Het
Cklf	T	C	8: 104,988,125 (GRCm39)	V86A	probably damaging	Het
Clock	T	A	5: 76,393,376 (GRCm39)	N189I	possibly damaging	Het
Dnah14	T	C	1: 181,444,205 (GRCm39)		probably null	Het
Dpep3	C	G	8: 106,700,245 (GRCm39)	C487S	probably benign	Het
Dtwd2	A	G	18: 49,856,799 (GRCm39)	F163L	probably benign	Het
Eln	C	T	5: 134,735,456 (GRCm39)	V776M	unknown	Het
Fanci	T	A	7: 79,055,971 (GRCm39)	M201K	possibly damaging	Het
Frmd4a	A	G	2: 4,608,372 (GRCm39)	T747A	probably damaging	Het
Galnt9	T	A	5: 110,767,108 (GRCm39)	C526*	probably null	Het
Garnl3	T	C	2: 32,895,080 (GRCm39)	E663G	probably damaging	Het
Gdpd5	T	C	7: 99,100,945 (GRCm39)	S247P	probably damaging	Het
Gm4846	C	T	1: 166,322,142 (GRCm39)	D142N	probably damaging	Het
Kbtbd2	T	A	6: 56,756,917 (GRCm39)	E273V	probably damaging	Het
Klk1b11	A	G	7: 43,648,428 (GRCm39)	E145G	possibly damaging	Het
Mmp1a	G	T	9: 7,475,364 (GRCm39)	V378F	possibly damaging	Het
Mon2	G	T	10: 122,872,016 (GRCm39)	S336*	probably null	Het
Mrgprh	T	A	17: 13,095,917 (GRCm39)	N52K	probably damaging	Het
Myo9a	T	C	9: 59,772,922 (GRCm39)	F985L	probably benign	Het
Nkpd1	A	G	7: 19,258,009 (GRCm39)	D596G	probably damaging	Het
Oc90	C	A	15: 65,761,557 (GRCm39)	E154*	probably null	Het
Or8b101	T	A	9: 38,020,426 (GRCm39)	M143K	possibly damaging	Het
Or8b3	C	A	9: 38,315,047 (GRCm39)	Y292*	probably null	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,358,874 (GRCm39)	Y361C	probably damaging	Het
Polr2h	T	C	16: 20,539,285 (GRCm39)	Y90H	possibly damaging	Het
Potefam1	T	A	2: 111,020,699 (GRCm39)	R136S	unknown	Het
Ppp1r26	A	G	2: 28,343,649 (GRCm39)	N1093S	probably benign	Het
Prex1	G	T	2: 166,417,669 (GRCm39)	R1313S	probably damaging	Het
Ptprh	A	T	7: 4,583,911 (GRCm39)	V227E	probably damaging	Het
Pycr2	A	G	1: 180,733,473 (GRCm39)	D58G	probably benign	Het
Rad54b	G	T	4: 11,609,321 (GRCm39)	E591*	probably null	Het
Rptor	T	C	11: 119,494,765 (GRCm39)	S44P	probably benign	Het
Safb2	T	A	17: 56,882,602 (GRCm39)	T344S	probably benign	Het
Samd9l	T	C	6: 3,376,856 (GRCm39)	E135G	probably benign	Het
Sec23a	A	T	12: 59,048,708 (GRCm39)	I167N	probably damaging	Het
Shoc2	C	T	19: 54,016,231 (GRCm39)	T415I	probably benign	Het
Sobp	T	C	10: 42,898,374 (GRCm39)	I404V	probably benign	Het
Ssbp4	G	T	8: 71,052,395 (GRCm39)	L147I	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Syt14	A	G	1: 192,612,814 (GRCm39)	V379A	probably damaging	Het
Tat	T	G	8: 110,722,820 (GRCm39)	I294S	probably damaging	Het
Tcf19	A	G	17: 35,825,899 (GRCm39)	V86A	probably damaging	Het
Tfap2a	T	A	13: 40,870,875 (GRCm39)	I338F	possibly damaging	Het
Tmco6	C	A	18: 36,872,384 (GRCm39)	N365K	probably damaging	Het
Tmub2	G	A	11: 102,178,475 (GRCm39)	R164K		Het
Togaram1	A	G	12: 65,065,906 (GRCm39)	I1637V	possibly damaging	Het
Wdr49	A	C	3: 75,205,419 (GRCm39)	S666A	probably benign	Het
Ybx1	T	A	4: 119,138,794 (GRCm39)	Y236F	possibly damaging	Het
Zfhx3	T	A	8: 109,676,756 (GRCm39)	I2602N	probably benign	Het

Other mutations in Nek3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Nek3	APN	8	22,648,722 (GRCm39)	missense	probably damaging	1.00
IGL01561:Nek3	APN	8	22,619,472 (GRCm39)	missense	probably damaging	0.97
IGL02799:Nek3	APN	8	22,648,735 (GRCm39)	splice site	probably benign
IGL02826:Nek3	APN	8	22,650,384 (GRCm39)	critical splice donor site	probably null
R0001:Nek3	UTSW	8	22,648,628 (GRCm39)	splice site	probably benign
R0390:Nek3	UTSW	8	22,618,745 (GRCm39)	unclassified	probably benign
R1367:Nek3	UTSW	8	22,650,377 (GRCm39)	splice site	probably benign
R1565:Nek3	UTSW	8	22,622,217 (GRCm39)	critical splice acceptor site	probably null
R1758:Nek3	UTSW	8	22,650,278 (GRCm39)	missense	probably damaging	1.00
R1924:Nek3	UTSW	8	22,647,047 (GRCm39)	missense	probably damaging	1.00
R3905:Nek3	UTSW	8	22,623,107 (GRCm39)	missense	probably benign	0.01
R4078:Nek3	UTSW	8	22,622,153 (GRCm39)	missense	probably damaging	1.00
R4089:Nek3	UTSW	8	22,639,929 (GRCm39)	missense	probably damaging	1.00
R4621:Nek3	UTSW	8	22,647,055 (GRCm39)	missense	probably damaging	1.00
R5207:Nek3	UTSW	8	22,622,243 (GRCm39)	intron	probably benign
R5432:Nek3	UTSW	8	22,638,748 (GRCm39)	splice site	probably null
R5790:Nek3	UTSW	8	22,621,314 (GRCm39)	missense	probably damaging	1.00
R5790:Nek3	UTSW	8	22,621,313 (GRCm39)	missense	probably damaging	1.00
R6856:Nek3	UTSW	8	22,619,463 (GRCm39)	missense	probably damaging	1.00
R8021:Nek3	UTSW	8	22,647,206 (GRCm39)	missense	probably damaging	1.00
R8056:Nek3	UTSW	8	22,619,359 (GRCm39)	critical splice donor site	probably null
R8129:Nek3	UTSW	8	22,639,908 (GRCm39)	missense	probably damaging	0.99
R8132:Nek3	UTSW	8	22,647,036 (GRCm39)	nonsense	probably null
R9708:Nek3	UTSW	8	22,618,742 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTTTCTACGAGCACACATGAC -3'
(R):5'- TACAAGGTCGGCTTCAGAAG -3'

Sequencing Primer
(F):5'- GCCAGGCTTGATAACCTGAGTTC -3'
(R):5'- CTTCAGAAGGAAAGGGACCC -3'

Posted On

2022-02-07