Mutagenetix > Incidental Mutation

Incidental Mutation 'R0558:Nfrkb'

45730

Institutional Source

Beutler Lab

Gene Symbol

Nfrkb

Ensembl Gene

ENSMUSG00000042185

Gene Name

nuclear factor related to kappa B binding protein

Synonyms

A530090G11Rik

MMRRC Submission

038750-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31386192-31421333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31410268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 754 (S754P)

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: S754P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: S754P

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,800,724 (GRCm38)	G273R	probably benign	Het
Adamts10	T	C	17: 33,550,609 (GRCm38)	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,673,121 (GRCm38)	D90G	probably damaging	Het
Atic	T	A	1: 71,563,788 (GRCm38)	V107E	probably benign	Het
Atp4b	T	C	8: 13,393,523 (GRCm38)	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,381,550 (GRCm38)	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,434,808 (GRCm38)	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,724,387 (GRCm38)		probably benign	Het
Cd226	T	A	18: 89,207,214 (GRCm38)	H78Q	probably benign	Het
Cers3	A	G	7: 66,783,418 (GRCm38)	D161G	probably damaging	Het
Ces1f	T	C	8: 93,275,389 (GRCm38)	H37R	probably benign	Het
Cfhr4	A	G	1: 139,739,492 (GRCm38)	V376A	probably damaging	Het
Chek1	T	A	9: 36,712,115 (GRCm38)	N421I	possibly damaging	Het
Cibar1	T	C	4: 12,164,095 (GRCm38)	D248G	probably damaging	Het
Cma2	T	C	14: 55,972,792 (GRCm38)	Y45H	probably damaging	Het
Cmas	C	A	6: 142,775,244 (GRCm38)	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,444,634 (GRCm38)	S492T	probably benign	Het
Dnah12	T	C	14: 26,709,310 (GRCm38)	S358P	probably benign	Het
Dnajc13	T	C	9: 104,201,952 (GRCm38)		probably null	Het
Ep400	A	C	5: 110,685,067 (GRCm38)		probably benign	Het
Fam209	T	A	2: 172,472,838 (GRCm38)	N82K	probably benign	Het
G3bp2	A	T	5: 92,073,197 (GRCm38)	Y20N	probably damaging	Het
Gli2	T	C	1: 118,837,649 (GRCm38)	D924G	probably benign	Het
Gm10787	T	C	10: 77,022,016 (GRCm38)		noncoding transcript	Het
Gm11568	A	G	11: 99,858,046 (GRCm38)	R26G	unknown	Het
Hivep3	T	G	4: 120,096,566 (GRCm38)	L693R	probably damaging	Het
Hook1	A	G	4: 95,993,212 (GRCm38)		probably benign	Het
Ibtk	A	C	9: 85,737,538 (GRCm38)	D116E	probably damaging	Het
Insrr	C	T	3: 87,810,981 (GRCm38)	T927I	possibly damaging	Het
Irx1	T	G	13: 71,959,628 (GRCm38)	S312R	probably benign	Het
Itga11	T	C	9: 62,752,288 (GRCm38)	Y441H	probably benign	Het
Itsn1	A	G	16: 91,899,623 (GRCm38)	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,669,421 (GRCm38)	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,436,301 (GRCm38)	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,760,963 (GRCm38)		noncoding transcript	Het
Lars1	T	G	18: 42,214,837 (GRCm38)	I974L	probably benign	Het
Limch1	A	G	5: 66,969,155 (GRCm38)	D42G	probably damaging	Het
Mau2	G	C	8: 70,042,432 (GRCm38)	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,418,864 (GRCm38)	I393T	probably benign	Het
Mpl	A	C	4: 118,444,020 (GRCm38)	S541R	probably damaging	Het
Or4c125	A	G	2: 89,340,236 (GRCm38)	L22P	probably benign	Het
Or5bw2	T	C	7: 6,570,653 (GRCm38)	Y221H	possibly damaging	Het
Or5d41	A	G	2: 88,224,474 (GRCm38)	V186A	possibly damaging	Het
Or8g18	T	A	9: 39,238,200 (GRCm38)	T75S	probably damaging	Het
P2rx7	A	T	5: 122,673,798 (GRCm38)	I391F	possibly damaging	Het
Pbrm1	T	A	14: 31,085,059 (GRCm38)		probably null	Het
Pcdh8	T	C	14: 79,770,076 (GRCm38)	D349G	probably damaging	Het
Pias1	A	G	9: 62,882,009 (GRCm38)	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,484,424 (GRCm38)	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,837,935 (GRCm38)	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,774,087 (GRCm38)	S375T	probably benign	Het
Prkar1b	C	T	5: 139,020,092 (GRCm38)	V313M	probably benign	Het
Prr35	T	C	17: 25,947,549 (GRCm38)	N338S	probably benign	Het
Ptpn13	T	C	5: 103,529,717 (GRCm38)	S734P	probably damaging	Het
Rdh1	T	C	10: 127,759,941 (GRCm38)	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,949,338 (GRCm38)	I285L	probably benign	Het
Rubcnl	T	C	14: 75,047,547 (GRCm38)	F502S	probably damaging	Het
Ryr2	T	A	13: 11,638,443 (GRCm38)	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,799,861 (GRCm38)	Y675C	probably damaging	Het
Scaper	T	C	9: 55,685,923 (GRCm38)	T477A	probably benign	Het
Scn2a	G	T	2: 65,711,925 (GRCm38)	V791L	probably benign	Het
Sdk1	A	T	5: 142,132,065 (GRCm38)	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,714,415 (GRCm38)	H483L	probably benign	Het
Sema6c	T	C	3: 95,168,691 (GRCm38)	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,335,117 (GRCm38)	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,344,383 (GRCm38)	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,233,065 (GRCm38)		probably benign	Het
Slc38a9	A	T	13: 112,729,196 (GRCm38)		probably null	Het
Taok1	A	C	11: 77,559,844 (GRCm38)	S367R	possibly damaging	Het
Tlr6	G	A	5: 64,954,860 (GRCm38)	Q235*	probably null	Het
Top2a	A	G	11: 98,996,839 (GRCm38)	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,675,782 (GRCm38)	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,653,462 (GRCm38)	T288A	probably benign	Het
Ubr4	A	G	4: 139,426,902 (GRCm38)	E2140G	probably benign	Het
Uso1	A	G	5: 92,174,019 (GRCm38)	Q257R	probably benign	Het
Zfp106	A	G	2: 120,532,196 (GRCm38)	V48A	probably damaging	Het
Zfp174	T	A	16: 3,848,254 (GRCm38)	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,445,055 (GRCm38)	D426V	probably benign	Het

Other mutations in Nfrkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Nfrkb	APN	9	31,389,049 (GRCm38)	missense	probably damaging	0.99
IGL01343:Nfrkb	APN	9	31,388,954 (GRCm38)	missense	probably damaging	0.99
IGL01363:Nfrkb	APN	9	31,414,371 (GRCm38)	missense	possibly damaging	0.53
IGL01647:Nfrkb	APN	9	31,396,505 (GRCm38)	splice site	probably benign
IGL01655:Nfrkb	APN	9	31,403,459 (GRCm38)	missense	probably benign	0.09
IGL01735:Nfrkb	APN	9	31,410,139 (GRCm38)	missense	possibly damaging	0.73
IGL01926:Nfrkb	APN	9	31,414,179 (GRCm38)	missense	probably benign	0.01
IGL01929:Nfrkb	APN	9	31,419,873 (GRCm38)	missense	possibly damaging	0.73
IGL02095:Nfrkb	APN	9	31,411,231 (GRCm38)	missense	probably damaging	0.97
IGL02370:Nfrkb	APN	9	31,389,012 (GRCm38)	missense	probably benign	0.08
IGL02525:Nfrkb	APN	9	31,414,516 (GRCm38)	missense	possibly damaging	0.73
R0325:Nfrkb	UTSW	9	31,414,180 (GRCm38)	missense	probably benign	0.06
R0390:Nfrkb	UTSW	9	31,388,897 (GRCm38)	start gained	probably benign
R0670:Nfrkb	UTSW	9	31,420,173 (GRCm38)	missense	probably benign	0.33
R1329:Nfrkb	UTSW	9	31,414,647 (GRCm38)	missense	possibly damaging	0.93
R1729:Nfrkb	UTSW	9	31,414,636 (GRCm38)	missense	probably benign	0.00
R1730:Nfrkb	UTSW	9	31,414,636 (GRCm38)	missense	probably benign	0.00
R1894:Nfrkb	UTSW	9	31,414,768 (GRCm38)	missense	probably benign	0.02
R1975:Nfrkb	UTSW	9	31,414,684 (GRCm38)	missense	possibly damaging	0.86
R2022:Nfrkb	UTSW	9	31,411,250 (GRCm38)	missense	probably benign	0.04
R2175:Nfrkb	UTSW	9	31,389,014 (GRCm38)	missense	possibly damaging	0.73
R3793:Nfrkb	UTSW	9	31,409,932 (GRCm38)	splice site	probably benign
R4020:Nfrkb	UTSW	9	31,414,111 (GRCm38)	missense	possibly damaging	0.96
R4425:Nfrkb	UTSW	9	31,399,962 (GRCm38)	missense	probably damaging	0.99
R4727:Nfrkb	UTSW	9	31,403,623 (GRCm38)	missense	probably damaging	0.99
R4730:Nfrkb	UTSW	9	31,410,251 (GRCm38)	missense	probably benign	0.33
R4775:Nfrkb	UTSW	9	31,419,049 (GRCm38)	missense	possibly damaging	0.86
R5032:Nfrkb	UTSW	9	31,389,055 (GRCm38)	splice site	probably null
R5532:Nfrkb	UTSW	9	31,397,779 (GRCm38)	missense	probably damaging	1.00
R5635:Nfrkb	UTSW	9	31,399,298 (GRCm38)	missense	probably damaging	0.98
R5712:Nfrkb	UTSW	9	31,414,636 (GRCm38)	missense	probably benign	0.00
R5720:Nfrkb	UTSW	9	31,394,742 (GRCm38)	missense	probably damaging	1.00
R6448:Nfrkb	UTSW	9	31,394,789 (GRCm38)	missense	probably damaging	1.00
R6543:Nfrkb	UTSW	9	31,400,985 (GRCm38)	nonsense	probably null
R6612:Nfrkb	UTSW	9	31,397,006 (GRCm38)	nonsense	probably null
R7087:Nfrkb	UTSW	9	31,419,932 (GRCm38)	nonsense	probably null
R7123:Nfrkb	UTSW	9	31,414,015 (GRCm38)	critical splice acceptor site	probably null
R7483:Nfrkb	UTSW	9	31,414,032 (GRCm38)	nonsense	probably null
R7875:Nfrkb	UTSW	9	31,410,154 (GRCm38)	missense	possibly damaging	0.53
R8336:Nfrkb	UTSW	9	31,403,519 (GRCm38)	missense	possibly damaging	0.64
R8370:Nfrkb	UTSW	9	31,405,579 (GRCm38)	missense	probably damaging	1.00
R8427:Nfrkb	UTSW	9	31,419,027 (GRCm38)	missense	probably benign	0.01
R8518:Nfrkb	UTSW	9	31,399,965 (GRCm38)	missense	probably damaging	0.99
R9607:Nfrkb	UTSW	9	31,414,770 (GRCm38)	missense	possibly damaging	0.73
R9627:Nfrkb	UTSW	9	31,409,893 (GRCm38)	missense	possibly damaging	0.96
R9679:Nfrkb	UTSW	9	31,410,089 (GRCm38)	missense	probably benign
T0975:Nfrkb	UTSW	9	31,397,083 (GRCm38)	missense	probably benign	0.04
Z1088:Nfrkb	UTSW	9	31,411,333 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGATACTCGGCTTTCACCTGACCC -3'
(R):5'- TGAGCTGGAATGGCTGACAACC -3'

Sequencing Primer
(F):5'- CCAGTAATAAGGAGGGCTCCAC -3'
(R):5'- TGACAACCCGAGCAGTG -3'

Posted On

2013-06-11