Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Nek3'

448275

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

043384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22618299-22656451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22621313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 405 (Q405H)

Ref Sequence

ENSEMBL: ENSMUSP00000106358 (fasta)

Gene Model

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

AlphaFold

Q9R0A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033865
AA Change: Q403H

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

SMART Domains

Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: Q403H

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: Q405H

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

SMART Domains

Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: Q405H

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

noncoding transcript
Transcript: ENSMUST00000151371

Predicted Effect

probably damaging
Transcript: ENSMUST00000178324
AA Change: Q405H

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

SMART Domains

Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: Q405H

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

Meta Mutation Damage Score

0.1700

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,113,650 (GRCm39)	L331Q	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,184,757 (GRCm39)	D1118E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,293,827 (GRCm39)	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Grk3	T	G	5: 113,114,842 (GRCm39)	K126T	possibly damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
Or6c66	A	G	10: 129,461,757 (GRCm39)	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	probably damaging	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
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
R9213:Nek3	UTSW	8	22,638,677 (GRCm39)	missense	probably benign	0.00
R9708:Nek3	UTSW	8	22,618,742 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGGTTACTGAGGTGGTCG -3'
(R):5'- CCAGGGTTTGAGTTTATATCACTCTG -3'

Sequencing Primer
(F):5'- GGTCGATTTTATTCATATTTTACCGC -3'
(R):5'- TCTGCAAGAGACATTTGGCACTC -3'

Posted On

2016-12-15