Mutagenetix > Incidental Mutation

Incidental Mutation 'R4429:Map3k14'

328340

Institutional Source

Beutler Lab

Gene Symbol

Map3k14

Ensembl Gene

ENSMUSG00000020941

Gene Name

mitogen-activated protein kinase kinase kinase 14

Synonyms

Nik

MMRRC Submission

041699-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.721) question?

Stock #

R4429 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

103110590-103158227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103118410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 592 (L592P)

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

probably damaging
Transcript: ENSMUST00000021324
AA Change: L592P

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

SMART Domains

Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: L592P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Abca5	T	C	11: 110,202,236 (GRCm39)	T390A	probably benign	Het
Ahcyl2	T	G	6: 29,894,874 (GRCm39)	V452G	probably damaging	Het
Ano4	T	A	10: 88,828,804 (GRCm39)	N545I	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Catip	T	A	1: 74,407,891 (GRCm39)		probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cnpy3	T	A	17: 47,058,070 (GRCm39)	Q111L	probably benign	Het
Dnah8	A	G	17: 30,971,120 (GRCm39)	N2725D	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Ephb3	G	A	16: 21,033,213 (GRCm39)	E66K	probably damaging	Het
Gm6594	T	A	17: 82,846,923 (GRCm39)	D79E	probably benign	Het
Gtf2e2	T	A	8: 34,242,521 (GRCm39)	Y74*	probably null	Het
Hacd4	A	T	4: 88,353,184 (GRCm39)	F103I	possibly damaging	Het
Hap1	T	C	11: 100,245,098 (GRCm39)	T38A	probably benign	Het
Havcr2	T	A	11: 46,347,387 (GRCm39)	D72E	probably damaging	Het
Iqcg	G	A	16: 32,839,860 (GRCm39)	T362I	probably benign	Het
Lect2	C	T	13: 56,693,538 (GRCm39)		probably null	Het
Lemd3	T	C	10: 120,813,893 (GRCm39)	T447A	probably benign	Het
Lrrc72	T	C	12: 36,258,623 (GRCm39)	N78S	probably damaging	Het
Meioc	T	C	11: 102,566,546 (GRCm39)	Y721H	probably damaging	Het
Mrps10	T	A	17: 47,689,124 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,201,283 (GRCm39)	Y1406C	probably damaging	Het
Myo7a	T	C	7: 97,702,395 (GRCm39)	Y2098C	probably damaging	Het
Nol9	C	T	4: 152,125,631 (GRCm39)	T194I	probably damaging	Het
Nox3	G	A	17: 3,733,233 (GRCm39)	T206I	probably benign	Het
Nsd2	T	G	5: 34,000,546 (GRCm39)	M21R	probably damaging	Het
Pcdh9	T	C	14: 94,124,820 (GRCm39)	N327S	probably damaging	Het
Pclo	T	G	5: 14,728,114 (GRCm39)		probably benign	Het
Pparg	T	A	6: 115,416,984 (GRCm39)	M59K	probably benign	Het
Prag1	A	G	8: 36,613,796 (GRCm39)	K1116R	probably damaging	Het
Rhbdf1	C	T	11: 32,163,369 (GRCm39)	E368K	probably benign	Het
Rita1	A	G	5: 120,747,626 (GRCm39)	V224A	probably damaging	Het
Rsph6a	T	A	7: 18,807,988 (GRCm39)	W384R	probably damaging	Het
Scn1a	A	T	2: 66,181,329 (GRCm39)	Y65N	possibly damaging	Het
Serpina5	C	A	12: 104,069,665 (GRCm39)	F292L	probably benign	Het
Sf3b3	A	C	8: 111,552,750 (GRCm39)	L511V	probably benign	Het
Siglecg	C	T	7: 43,067,350 (GRCm39)	P639L	possibly damaging	Het
Slc12a3	A	T	8: 95,069,713 (GRCm39)	I541F	probably damaging	Het
Slco6d1	T	C	1: 98,424,091 (GRCm39)	V581A	possibly damaging	Het
Sptbn2	T	C	19: 4,788,383 (GRCm39)	Y1121H	probably damaging	Het
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Timm29	G	C	9: 21,504,775 (GRCm39)	A148P	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Uba6	C	T	5: 86,268,406 (GRCm39)	V941I	probably damaging	Het
Vmn1r174	T	C	7: 23,453,565 (GRCm39)	V77A	probably benign	Het
Zfp661	A	G	2: 127,420,628 (GRCm39)	V57A	probably damaging	Het
Zfp867	C	T	11: 59,355,863 (GRCm39)	D64N	possibly damaging	Het
Zp3r	T	C	1: 130,519,128 (GRCm39)	T294A	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
R1487:Map3k14	UTSW	11	103,116,163 (GRCm39)	missense	possibly damaging	0.48
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
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'- CCTCCAGACTTAGTCTAAAGGATGC -3'
(R):5'- GCAGCCCAGGAACTAAGTTG -3'

Sequencing Primer
(F):5'- CTTAGTCTAAAGGATGCTGGGAG -3'
(R):5'- ACTAAGTTGAGTGGGCACTGAATTC -3'

Posted On

2015-07-07