Mutagenetix > Incidental Mutation

Incidental Mutation 'R9627:Nfrkb'

725223

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: 0.860) question?

Stock #

R9627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31409893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 675 (L675P)

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: L675P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: L675P

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,657,490		probably benign	Het
Abca14	T	C	7: 120,255,307	V898A	probably benign	Het
Adamtsl1	A	T	4: 86,388,525	D1400V	possibly damaging	Het
Akap6	T	A	12: 53,104,630	M1159K		Het
Atg13	C	A	2: 91,678,753	G446*	probably null	Het
Atp6v1g2	G	T	17: 35,235,980		probably null	Het
Bmp2k	C	T	5: 97,053,169	A316V	possibly damaging	Het
Ccdc34	AAGA	AA	2: 110,040,665		probably null	Het
Cln6	T	A	9: 62,847,021	I115N	probably damaging	Het
Cma1	T	C	14: 55,943,832	T39A	probably benign	Het
Cpsf1	A	T	15: 76,599,888	M744K	probably damaging	Het
Csf1r	A	G	18: 61,127,900	Y721C	probably damaging	Het
Dcaf12	A	G	4: 41,293,976	L387P	probably benign	Het
Ephb1	T	C	9: 102,041,269	E347G	possibly damaging	Het
Fam208a	T	C	14: 27,472,166	S1108P	probably benign	Het
Fig4	T	A	10: 41,232,182	H674L	probably benign	Het
Foxa3	T	A	7: 19,014,533	K223*	probably null	Het
Gimap7	T	C	6: 48,723,666	V62A	probably damaging	Het
Glrx3	T	A	7: 137,445,026	V49E	probably benign	Het
Greb1	T	C	12: 16,706,166	Y823C	probably damaging	Het
Hapln4	C	A	8: 70,086,870	R184S	possibly damaging	Het
Hist1h3f	G	T	13: 23,544,623	V47L	possibly damaging	Het
Hmcn1	C	T	1: 150,630,303	C3824Y	probably damaging	Het
Hrnr	T	C	3: 93,325,928	S1158P	unknown	Het
Itln1	A	G	1: 171,533,417	S36P	probably benign	Het
Kcnh5	A	C	12: 75,114,216	I306S	probably damaging	Het
Kctd19	T	A	8: 105,387,365	M559L	probably benign	Het
Kif2a	A	G	13: 107,022,050	I9T	possibly damaging	Het
Klra5	G	A	6: 129,906,738	T142I	probably benign	Het
Ldlrad3	A	G	2: 101,955,078	V184A	probably damaging	Het
Lrrc27	T	C	7: 139,228,666		probably benign	Het
Mark1	A	G	1: 184,914,620	V340A	probably benign	Het
Mrps31	T	C	8: 22,411,542	V26A	probably benign	Het
Mtrr	G	A	13: 68,577,637	L118F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nbas	G	T	12: 13,300,202	V285F	possibly damaging	Het
Olfr1418	T	A	19: 11,855,546	I136F	possibly damaging	Het
Olfr178	T	A	16: 58,889,408	I271L	probably benign	Het
Olfr357	T	A	2: 36,997,653	V281E		Het
Phkg1	C	T	5: 129,864,535	W358*	probably null	Het
Plekhj1	A	C	10: 80,797,660	I51S	possibly damaging	Het
Plxnd1	C	T	6: 115,963,313	R1370Q	possibly damaging	Het
Prkg2	T	C	5: 98,932,010	*763W	probably null	Het
Rhobtb2	A	G	14: 69,796,900	F292S	probably damaging	Het
Rlf	A	T	4: 121,149,805	C769*	probably null	Het
Rmi1	C	A	13: 58,409,552	D538E	possibly damaging	Het
Scn4a	C	T	11: 106,322,013	V1389I	probably benign	Het
Serpinc1	A	T	1: 160,993,531	K183*	probably null	Het
Setd4	A	T	16: 93,583,674	M399K	possibly damaging	Het
Setx	T	C	2: 29,144,649	M382T	probably damaging	Het
Slc6a9	A	G	4: 117,864,013	Y208C	probably damaging	Het
Slfn2	A	T	11: 83,069,541	K115N		Het
Snrk	A	T	9: 122,137,361	K117*	probably null	Het
Spata31	A	G	13: 64,917,595	Y38C	possibly damaging	Het
Stab2	T	C	10: 86,957,840	T464A	probably damaging	Het
Tagap1	C	T	17: 6,956,928	G123D	probably benign	Het
Tas2r136	T	C	6: 132,777,985	K60E	possibly damaging	Het
Tmem200b	A	C	4: 131,922,126	Y119S	probably damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Wdr66	A	G	5: 123,322,494	D1173G	probably benign	Het
Wwp2	T	G	8: 107,552,327	L578W	probably damaging	Het
Zfp53	T	A	17: 21,508,483	C259*	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
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
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'- CCAAGGCCTGGCTTATCTTAC -3'
(R):5'- GAGCCCTCCTTATTACTGGACTTCTAG -3'

Sequencing Primer
(F):5'- CTGGGCTTACAGTTGTGCAAATCAC -3'
(R):5'- CTATGCTACGCTGTCTCA -3'

Posted On

2022-09-12