Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Nfrkb'

290875

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31389012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 33 (G33D)

Ref Sequence

ENSEMBL: ENSMUSP00000083341 (fasta)

Gene Model

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

AlphaFold

Q6PIJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000086167
AA Change: G33D

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: G33D

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: ENSMUST00000131540
AA Change: G33D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000132329
AA Change: G33D

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134528

Predicted Effect

probably benign
Transcript: ENSMUST00000152593
AA Change: G33D

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185
AA Change: G33D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215211
AA Change: G33D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	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
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
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

Posted On

2015-04-16