Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Nfrkb'

523680

Institutional Source

Beutler Lab

Gene Symbol

Nfrkb

Ensembl Gene

ENSMUSG00000042185

Gene Name

nuclear factor related to kappa B binding protein

Synonyms

A530090G11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31397006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 216 (L216*)

Ref Sequence

ENSEMBL: ENSMUSP00000149841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000131540] [ENSMUST00000132329] [ENSMUST00000152593] [ENSMUST00000215211]

AlphaFold

Q6PIJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000086167

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185

Domain	Start	End	E-Value	Type
low complexity region	209	234	N/A	INTRINSIC
coiled coil region	304	335	N/A	INTRINSIC
Pfam:NFRKB_winged	379	478	4.5e-35	PFAM
low complexity region	663	690	N/A	INTRINSIC
low complexity region	700	740	N/A	INTRINSIC
internal_repeat_1	879	953	2.02e-5	PROSPERO
low complexity region	1016	1034	N/A	INTRINSIC
low complexity region	1111	1127	N/A	INTRINSIC
internal_repeat_1	1128	1201	2.02e-5	PROSPERO
low complexity region	1239	1255	N/A	INTRINSIC
low complexity region	1269	1290	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128375

Predicted Effect

probably benign
Transcript: ENSMUST00000131540

Predicted Effect

probably benign
Transcript: ENSMUST00000132329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150179

Predicted Effect

probably benign
Transcript: ENSMUST00000152593

SMART Domains

Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185

Domain	Start	End	E-Value	Type
low complexity region	209	234	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000215211
AA Change: L216*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215544

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,007	D320E	possibly damaging	Het
4930523C07Rik	A	C	1: 160,075,234	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,065,331	S87C	probably benign	Het
Arhgef37	T	C	18: 61,494,881	T664A	probably benign	Het
Arsi	A	G	18: 60,912,456	T73A	probably benign	Het
Cacnb2	A	T	2: 14,975,149	T274S	probably benign	Het
Cd244	A	G	1: 171,574,104	T133A	probably benign	Het
Ciz1	T	A	2: 32,377,311	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,810,720	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,308,647	F160I	probably benign	Het
Esrra	T	C	19: 6,911,852	T390A	probably benign	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Gm17079	C	A	14: 51,694,375	Q91H	probably damaging	Het
Gm17079	T	A	14: 51,694,376	Q91L	possibly damaging	Het
Got1	A	G	19: 43,504,803	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,740,998	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,818,873	I154V	probably benign	Het
Hkdc1	T	C	10: 62,395,441	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,595,118		probably null	Het
Hspbap1	T	G	16: 35,801,591	L102W	probably damaging	Het
Iqcb1	G	A	16: 36,871,661		probably benign	Het
Itga7	A	G	10: 128,948,993	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,984,071	D418V	probably benign	Het
Jakmip2	T	C	18: 43,557,367	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Kcnu1	A	G	8: 25,918,316	I52V	probably benign	Het
Kdm5a	T	C	6: 120,430,228	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,845,858		probably benign	Het
Mab21l3	A	G	3: 101,818,645	V345A	possibly damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mccc1	T	C	3: 35,993,930	S115G	probably benign	Het
Mchr1	G	A	15: 81,237,870	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,590,035	I48F	probably benign	Het
Myo9a	T	A	9: 59,827,196	F687Y	probably damaging	Het
Nrxn3	A	T	12: 89,813,332		probably benign	Het
Olfr746	A	T	14: 50,653,633	Y132F	probably damaging	Het
Olig2	T	A	16: 91,226,881	M161K	probably damaging	Het
Pcdh15	T	A	10: 74,185,378	N141K	probably damaging	Het
Pcdha4	T	C	18: 36,954,978	V738A	probably benign	Het
Pdgfra	T	C	5: 75,167,842	S212P	probably benign	Het
Plk3	G	A	4: 117,132,737	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,437,604	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,082	N2303K	probably damaging	Het
Rab25	G	A	3: 88,543,403	T117M	probably damaging	Het
Slc25a47	T	C	12: 108,855,978	V231A	probably benign	Het
Slx4	G	A	16: 3,985,276	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,106,759	A470V	probably benign	Het
Spa17	A	G	9: 37,605,794	F101S	probably benign	Het
Ssh1	C	T	5: 113,958,730	A217T	probably benign	Het
Synm	G	C	7: 67,733,516	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,809,845	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,850,445	T175S	probably benign	Het
Tet2	T	A	3: 133,487,335	H446L	possibly damaging	Het
Tmem110	T	A	14: 30,871,564		probably null	Het
Tpm3-rs7	G	T	14: 113,314,836	R54L	probably benign	Het
Ttc5	T	A	14: 50,785,469		probably null	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,911,397	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,252,065	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324		probably null	Het

Other mutations in Nfrkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Nfrkb	APN	9	31389049	missense	probably damaging	0.99
IGL01343:Nfrkb	APN	9	31388954	missense	probably damaging	0.99
IGL01363:Nfrkb	APN	9	31414371	missense	possibly damaging	0.53
IGL01647:Nfrkb	APN	9	31396505	splice site	probably benign
IGL01655:Nfrkb	APN	9	31403459	missense	probably benign	0.09
IGL01735:Nfrkb	APN	9	31410139	missense	possibly damaging	0.73
IGL01926:Nfrkb	APN	9	31414179	missense	probably benign	0.01
IGL01929:Nfrkb	APN	9	31419873	missense	possibly damaging	0.73
IGL02095:Nfrkb	APN	9	31411231	missense	probably damaging	0.97
IGL02370:Nfrkb	APN	9	31389012	missense	probably benign	0.08
IGL02525:Nfrkb	APN	9	31414516	missense	possibly damaging	0.73
R0325:Nfrkb	UTSW	9	31414180	missense	probably benign	0.06
R0390:Nfrkb	UTSW	9	31388897	start gained	probably benign
R0558:Nfrkb	UTSW	9	31410268	missense	possibly damaging	0.73
R0670:Nfrkb	UTSW	9	31420173	missense	probably benign	0.33
R1329:Nfrkb	UTSW	9	31414647	missense	possibly damaging	0.93
R1729:Nfrkb	UTSW	9	31414636	missense	probably benign	0.00
R1730:Nfrkb	UTSW	9	31414636	missense	probably benign	0.00
R1894:Nfrkb	UTSW	9	31414768	missense	probably benign	0.02
R1975:Nfrkb	UTSW	9	31414684	missense	possibly damaging	0.86
R2022:Nfrkb	UTSW	9	31411250	missense	probably benign	0.04
R2175:Nfrkb	UTSW	9	31389014	missense	possibly damaging	0.73
R3793:Nfrkb	UTSW	9	31409932	splice site	probably benign
R4020:Nfrkb	UTSW	9	31414111	missense	possibly damaging	0.96
R4425:Nfrkb	UTSW	9	31399962	missense	probably damaging	0.99
R4727:Nfrkb	UTSW	9	31403623	missense	probably damaging	0.99
R4730:Nfrkb	UTSW	9	31410251	missense	probably benign	0.33
R4775:Nfrkb	UTSW	9	31419049	missense	possibly damaging	0.86
R5032:Nfrkb	UTSW	9	31389055	splice site	probably null
R5532:Nfrkb	UTSW	9	31397779	missense	probably damaging	1.00
R5635:Nfrkb	UTSW	9	31399298	missense	probably damaging	0.98
R5712:Nfrkb	UTSW	9	31414636	missense	probably benign	0.00
R5720:Nfrkb	UTSW	9	31394742	missense	probably damaging	1.00
R6448:Nfrkb	UTSW	9	31394789	missense	probably damaging	1.00
R6543:Nfrkb	UTSW	9	31400985	nonsense	probably null
R7087:Nfrkb	UTSW	9	31419932	nonsense	probably null
R7123:Nfrkb	UTSW	9	31414015	critical splice acceptor site	probably null
R7483:Nfrkb	UTSW	9	31414032	nonsense	probably null
R7875:Nfrkb	UTSW	9	31410154	missense	possibly damaging	0.53
R8336:Nfrkb	UTSW	9	31403519	missense	possibly damaging	0.64
R8370:Nfrkb	UTSW	9	31405579	missense	probably damaging	1.00
R8427:Nfrkb	UTSW	9	31419027	missense	probably benign	0.01
R8518:Nfrkb	UTSW	9	31399965	missense	probably damaging	0.99
R9607:Nfrkb	UTSW	9	31414770	missense	possibly damaging	0.73
R9627:Nfrkb	UTSW	9	31409893	missense	possibly damaging	0.96
R9679:Nfrkb	UTSW	9	31410089	missense	probably benign
T0975:Nfrkb	UTSW	9	31397083	missense	probably benign	0.04
Z1088:Nfrkb	UTSW	9	31411333	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GACCCCATCACTCTGTTGAAGTC -3'
(R):5'- TGTCAGGCCAAGAATCCAGTC -3'

Sequencing Primer
(F):5'- TGAAGTCTCTCTCCTGGAAGAGC -3'
(R):5'- GGAACTCTCACTTTACACCATGATG -3'

Posted On

2018-06-22