Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Map3k14'

163548

Institutional Source

Beutler Lab

Gene Symbol

Map3k14

Ensembl Gene

ENSMUSG00000020941

Gene Name

mitogen-activated protein kinase kinase kinase 14

Synonyms

Nik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.721) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103110590-103158227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103116163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 755 (D755V)

Ref Sequence

ENSEMBL: ENSMUSP00000021324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021324]

AlphaFold

Q9WUL6

PDB Structure

Crystal structure of apo murine Nf-kappaB inducing kinase (NIK) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) bound to a 6-alkynylindoline (cmp1) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) bound to a 2-(aminothiazoly)phenol (cmp2) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) V408L bound to a 2-(aminothiazolyl)phenol (cmp3) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021324
AA Change: D755V

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: D755V

Domain	Start	End	E-Value	Type
low complexity region	134	153	N/A	INTRINSIC
Pfam:Pkinase	402	653	2.1e-42	PFAM
Pfam:Pkinase_Tyr	402	653	1.5e-24	PFAM
low complexity region	706	719	N/A	INTRINSIC
low complexity region	760	774	N/A	INTRINSIC
low complexity region	789	804	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146163

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit deficiencies in cellular and humoral immunity, susceptibility to infections, absence of lymph nodes and Peyer's patches, failure of isotype switching, and inflammation of exocrine organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	Het

Other mutations in Map3k14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Map3k14	APN	11	103,118,405 (GRCm39)	missense	probably damaging	1.00
IGL00590:Map3k14	APN	11	103,128,380 (GRCm39)	missense	probably damaging	1.00
IGL03065:Map3k14	APN	11	103,115,927 (GRCm39)	missense	probably damaging	1.00
lucky	UTSW	11	103,249,558 (GRCm38)	intron	probably benign
Messer	UTSW	11	103,132,958 (GRCm39)	missense	probably damaging	1.00
R0020:Map3k14	UTSW	11	103,118,500 (GRCm39)	missense	probably damaging	0.99
R0070:Map3k14	UTSW	11	103,130,380 (GRCm39)	critical splice acceptor site	probably null
R0294:Map3k14	UTSW	11	103,117,963 (GRCm39)	missense	possibly damaging	0.80
R0624:Map3k14	UTSW	11	103,133,117 (GRCm39)	missense	possibly damaging	0.77
R0734:Map3k14	UTSW	11	103,117,826 (GRCm39)	missense	probably benign	0.00
R1015:Map3k14	UTSW	11	103,116,126 (GRCm39)	missense	probably damaging	1.00
R1170:Map3k14	UTSW	11	103,129,743 (GRCm39)	splice site	probably benign
R2204:Map3k14	UTSW	11	103,130,280 (GRCm39)	missense	possibly damaging	0.82
R2880:Map3k14	UTSW	11	103,111,858 (GRCm39)	missense	probably damaging	1.00
R4429:Map3k14	UTSW	11	103,118,410 (GRCm39)	missense	probably damaging	1.00
R4624:Map3k14	UTSW	11	103,121,927 (GRCm39)	missense	probably damaging	1.00
R4967:Map3k14	UTSW	11	103,130,357 (GRCm39)	missense	probably benign	0.00
R5098:Map3k14	UTSW	11	103,115,185 (GRCm39)	missense	probably damaging	1.00
R5148:Map3k14	UTSW	11	103,130,158 (GRCm39)	missense	probably benign
R5208:Map3k14	UTSW	11	103,129,972 (GRCm39)	missense	probably damaging	0.98
R5480:Map3k14	UTSW	11	103,130,330 (GRCm39)	missense	probably benign	0.03
R6697:Map3k14	UTSW	11	103,117,890 (GRCm39)	missense	probably benign	0.19
R6932:Map3k14	UTSW	11	103,132,958 (GRCm39)	missense	probably damaging	1.00
R7039:Map3k14	UTSW	11	103,111,861 (GRCm39)	missense	probably damaging	0.99
R7275:Map3k14	UTSW	11	103,117,848 (GRCm39)	missense	probably damaging	1.00
R7404:Map3k14	UTSW	11	103,129,918 (GRCm39)	missense	probably benign	0.01
R8810:Map3k14	UTSW	11	103,118,498 (GRCm39)	missense	possibly damaging	0.59
R8883:Map3k14	UTSW	11	103,130,278 (GRCm39)	missense	probably benign	0.39
R9023:Map3k14	UTSW	11	103,129,835 (GRCm39)	missense	possibly damaging	0.61
R9135:Map3k14	UTSW	11	103,128,364 (GRCm39)	missense	probably damaging	0.98
R9462:Map3k14	UTSW	11	103,118,360 (GRCm39)	nonsense	probably null
R9688:Map3k14	UTSW	11	103,130,059 (GRCm39)	missense	possibly damaging	0.48
T0970:Map3k14	UTSW	11	103,115,124 (GRCm39)	nonsense	probably null
X0023:Map3k14	UTSW	11	103,130,648 (GRCm39)	missense	probably damaging	1.00
Z1176:Map3k14	UTSW	11	103,121,899 (GRCm39)	missense	probably benign	0.02
Z1176:Map3k14	UTSW	11	103,116,322 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGATTTGTTCCTGTTCCTCCAGAGAG -3'
(R):5'- AGTGGGAGGTCTGAAAAGCCCTTG -3'

Sequencing Primer
(F):5'- TGTTCCTCCAGAGAGAACGG -3'
(R):5'- TACCTACTCCGCCGAGAGAG -3'

Posted On

2014-03-28