Mutagenetix > Incidental Mutation

Incidental Mutation 'R1329:Nfrkb'

156117

Institutional Source

Beutler Lab

Gene Symbol

Nfrkb

Ensembl Gene

ENSMUSG00000042185

Gene Name

nuclear factor related to kappa B binding protein

Synonyms

A530090G11Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R1329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31414647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1129 (P1129S)

Ref Sequence

ENSEMBL: ENSMUSP00000083341 (fasta)

Gene Model

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

AlphaFold

Q6PIJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086167
AA Change: P1129S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: P1129S

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: ENSMUST00000132329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143558

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	A	11: 29,823,553	N635Y	probably benign	Het
Acot7	C	T	4: 152,229,784	Q188*	probably null	Het
Ano5	T	C	7: 51,546,785	Y141H	probably benign	Het
Atg101	G	A	15: 101,290,290	G92D	probably null	Het
Brwd1	A	G	16: 96,003,234	I1912T	probably benign	Het
C530008M17Rik	A	G	5: 76,657,932		probably benign	Het
Cad	G	T	5: 31,059,582	G263W	probably damaging	Het
Clstn2	T	C	9: 97,458,174	E715G	probably damaging	Het
Dbp	C	T	7: 45,708,328	P70S	probably damaging	Het
Gpr61	T	A	3: 108,150,514	H277L	probably benign	Het
Gsdma3	G	T	11: 98,632,392	V203F	probably damaging	Het
Ifih1	G	C	2: 62,617,487		probably null	Het
Myo1e	T	A	9: 70,338,738	C404S	possibly damaging	Het
Myrfl	A	G	10: 116,777,342		probably null	Het
Nfat5	T	G	8: 107,369,027	M1300R	probably benign	Het
Nubp2	A	T	17: 24,883,864	N208K	possibly damaging	Het
Olfr44	A	G	9: 39,484,444	S270P	probably damaging	Het
Ovch2	T	C	7: 107,785,446	D488G	probably damaging	Het
Rfx6	A	T	10: 51,693,737	Y202F	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Usp4	T	A	9: 108,372,566	V431E	probably damaging	Het
Vil1	A	G	1: 74,427,558	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,387,188	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,627,299	N511K	probably benign	Het
Wdr5	T	A	2: 27,531,671	F222I	probably damaging	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
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
R6612:Nfrkb	UTSW	9	31397006	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'- CCAGCAGGTACTACTGTGGTCAAAG -3'
(R):5'- AGAACAGTTTCTTGAGCAGAGGGC -3'

Sequencing Primer
(F):5'- GGTACTACTGTGGTCAAAGTAACTCC -3'
(R):5'- GCAGAGGGCTAAAATCTTTACC -3'

Posted On

2014-02-11