Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Nek3'

316693

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

041623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22618299-22656451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22622153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 363 (W363R)

Ref Sequence

ENSEMBL: ENSMUSP00000136876 (fasta)

Gene Model

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

AlphaFold

Q9R0A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033865
AA Change: W361R

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

SMART Domains

Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: W361R

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: W363R

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

SMART Domains

Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: W363R

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: W363R

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

SMART Domains

Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: W363R

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

0.1735

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	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
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
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'- GCTCCAGAGTTTTGGATCTAGG -3'
(R):5'- ACTCGGGCTACAAGAAATGC -3'

Sequencing Primer
(F):5'- CAATGCAGCTGTGGTAACTC -3'
(R):5'- CTCGGGCTACAAGAAATGCTTCTG -3'

Posted On

2015-05-15