Mutagenetix > Incidental Mutation

Incidental Mutation 'R8427:Nfrkb'

653530

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 #

R8427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31419027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1192 (M1192V)

Ref Sequence

ENSEMBL: ENSMUSP00000083341 (fasta)

Gene Model

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

AlphaFold

Q6PIJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000086167
AA Change: M1192V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: M1192V

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

probably benign
Transcript: ENSMUST00000132329

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	G	T	12: 72,903,286	S271R	possibly damaging	Het
Adrb2	A	G	18: 62,179,274	V160A	possibly damaging	Het
Atp13a5	T	C	16: 29,349,002	D113G	possibly damaging	Het
B4galt7	T	A	13: 55,609,325	V312D	possibly damaging	Het
Bccip	A	G	7: 133,709,491	D45G	probably benign	Het
Bcl2l2	A	G	14: 54,885,403	Y151C	probably damaging	Het
Ccdc146	T	C	5: 21,399,792	E16G	unknown	Het
Cdr2l	C	A	11: 115,394,039	D400E	probably damaging	Het
Celsr2	A	C	3: 108,392,633	*2920E	probably null	Het
Cib1	A	G	7: 80,228,001	F183L	probably damaging	Het
Cnot1	A	G	8: 95,734,324	Y1716H	probably benign	Het
Copb1	A	G	7: 114,226,754	V665A	probably benign	Het
Crmp1	C	T	5: 37,291,195	T683I	probably damaging	Het
Cubn	G	C	2: 13,428,756	F1114L	probably benign	Het
Dab2	A	T	15: 6,429,359	R251*	probably null	Het
Ddx28	A	G	8: 106,010,280	V382A	probably benign	Het
Eml1	C	A	12: 108,530,321	T612K	probably damaging	Het
Hoxb3	CGGCGGTGGCGG	CGGCGGTGGCGGTGGCGG	11: 96,345,589		probably benign	Het
Hoxb3	TGGCGG	TGGCGGAGGCGG	11: 96,345,595		probably benign	Het
Iapp	T	A	6: 142,298,886	I13N	probably damaging	Het
Ifit1bl1	A	T	19: 34,599,266		probably null	Het
Itgb4	T	A	11: 115,991,718		probably null	Het
Kcnh3	T	C	15: 99,227,053	V128A	probably benign	Het
Kmt2a	A	G	9: 44,845,423	F1176L	probably damaging	Het
Lifr	A	G	15: 7,190,981	T1031A	probably benign	Het
Lrp2	T	C	2: 69,451,297	D3910G	probably damaging	Het
Man1a2	A	T	3: 100,684,685	S60T	probably benign	Het
Mdh1	C	T	11: 21,564,138	R93K	probably benign	Het
Mical1	G	T	10: 41,478,595	K142N	probably damaging	Het
Nf2	T	A	11: 4,791,118	E365D	probably benign	Het
Npas4	A	C	19: 4,986,080	D685E	probably benign	Het
Olfr1291-ps1	A	G	2: 111,499,965	T238A	probably damaging	Het
Olfr358	G	T	2: 37,004,782	Y277*	probably null	Het
Olfr747	T	A	14: 50,681,149	I162F	probably damaging	Het
Ovch2	G	A	7: 107,794,000	T222I	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Pld1	A	T	3: 28,088,646	I668F	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppa1	A	G	10: 61,660,925	D64G	possibly damaging	Het
Rnf133	T	C	6: 23,649,406	I175V	probably benign	Het
Rpp30	A	G	19: 36,094,412	I127V	probably benign	Het
Scube2	T	A	7: 109,800,590	H913L	probably damaging	Het
Sema6d	T	A	2: 124,665,277	S1045T	probably benign	Het
Skida1	A	T	2: 18,046,591	N496K	unknown	Het
Slc29a2	A	T	19: 5,030,420	I397F	probably benign	Het
Slc38a2	G	T	15: 96,692,413	R316S	probably damaging	Het
Slc40a1	A	C	1: 45,912,338	Y220D	probably damaging	Het
Strc	T	G	2: 121,377,531	H453P	probably damaging	Het
Tmprss3	T	A	17: 31,188,384	I312F	probably damaging	Het
Tnn	G	A	1: 160,130,686	T529I	probably damaging	Het
Tnr	A	T	1: 159,886,231	D743V	possibly damaging	Het
Trim42	A	T	9: 97,363,121	F542Y	probably benign	Het
Trpm2	A	T	10: 77,911,402	Y1421N	possibly damaging	Het
Ttn	T	C	2: 76,746,557	E24664G	probably damaging	Het
Ube2q2	T	C	9: 55,184,966		probably null	Het
Unc79	A	T	12: 103,079,038	R824S	probably benign	Het
V1ra8	A	G	6: 90,203,577	D254G	probably damaging	Het
Vmn1r173	A	T	7: 23,702,534	I65F	probably damaging	Het
Vmn2r16	T	A	5: 109,340,272	M337K	probably benign	Het
Wfs1	C	A	5: 36,968,087	G487C	probably damaging	Het
Xdh	T	C	17: 73,935,931	Y127C	probably damaging	Het
Zfp229	T	C	17: 21,746,834	S682P	probably damaging	Het
Zscan4-ps1	A	T	7: 11,068,520	D117E	possibly 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
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
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
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'- AGGAACATTGGGACCCTTGG -3'
(R):5'- CGCTTTCTACACGCAATATATACTG -3'

Sequencing Primer
(F):5'- CCTTGGGGAAATGAGGGTTG -3'
(R):5'- CTCTATCCAAAACAGTACTGGGGATG -3'

Posted On

2020-10-20