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

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R1329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31297488-31332629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31325943 bp (GRCm39)

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
Acot7	C	T	4: 152,314,241 (GRCm39)	Q188*	probably null	Het
Ano5	T	C	7: 51,196,533 (GRCm39)	Y141H	probably benign	Het
Atg101	G	A	15: 101,188,171 (GRCm39)	G92D	probably null	Het
Brwd1	A	G	16: 95,804,434 (GRCm39)	I1912T	probably benign	Het
Cad	G	T	5: 31,216,926 (GRCm39)	G263W	probably damaging	Het
Clstn2	T	C	9: 97,340,227 (GRCm39)	E715G	probably damaging	Het
Cracd	A	G	5: 76,805,779 (GRCm39)		probably benign	Het
Dbp	C	T	7: 45,357,752 (GRCm39)	P70S	probably damaging	Het
Fem1al	T	A	11: 29,773,553 (GRCm39)	N635Y	probably benign	Het
Gpr61	T	A	3: 108,057,830 (GRCm39)	H277L	probably benign	Het
Gsdma3	G	T	11: 98,523,218 (GRCm39)	V203F	probably damaging	Het
Ifih1	G	C	2: 62,447,831 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,020 (GRCm39)	C404S	possibly damaging	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Nfat5	T	G	8: 108,095,659 (GRCm39)	M1300R	probably benign	Het
Nubp2	A	T	17: 25,102,838 (GRCm39)	N208K	possibly damaging	Het
Or8g20	A	G	9: 39,395,740 (GRCm39)	S270P	probably damaging	Het
Ovch2	T	C	7: 107,384,653 (GRCm39)	D488G	probably damaging	Het
Rfx6	A	T	10: 51,569,833 (GRCm39)	Y202F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Usp4	T	A	9: 108,249,765 (GRCm39)	V431E	probably damaging	Het
Vil1	A	G	1: 74,466,717 (GRCm39)	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,606,162 (GRCm39)	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,534,615 (GRCm39)	N511K	probably benign	Het
Wdr5	T	A	2: 27,421,683 (GRCm39)	F222I	probably damaging	Het

Other mutations in Nfrkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Nfrkb	APN	9	31,300,345 (GRCm39)	missense	probably damaging	0.99
IGL01343:Nfrkb	APN	9	31,300,250 (GRCm39)	missense	probably damaging	0.99
IGL01363:Nfrkb	APN	9	31,325,667 (GRCm39)	missense	possibly damaging	0.53
IGL01647:Nfrkb	APN	9	31,307,801 (GRCm39)	splice site	probably benign
IGL01655:Nfrkb	APN	9	31,314,755 (GRCm39)	missense	probably benign	0.09
IGL01735:Nfrkb	APN	9	31,321,435 (GRCm39)	missense	possibly damaging	0.73
IGL01926:Nfrkb	APN	9	31,325,475 (GRCm39)	missense	probably benign	0.01
IGL01929:Nfrkb	APN	9	31,331,169 (GRCm39)	missense	possibly damaging	0.73
IGL02095:Nfrkb	APN	9	31,322,527 (GRCm39)	missense	probably damaging	0.97
IGL02370:Nfrkb	APN	9	31,300,308 (GRCm39)	missense	probably benign	0.08
IGL02525:Nfrkb	APN	9	31,325,812 (GRCm39)	missense	possibly damaging	0.73
R0325:Nfrkb	UTSW	9	31,325,476 (GRCm39)	missense	probably benign	0.06
R0390:Nfrkb	UTSW	9	31,300,193 (GRCm39)	start gained	probably benign
R0558:Nfrkb	UTSW	9	31,321,564 (GRCm39)	missense	possibly damaging	0.73
R0670:Nfrkb	UTSW	9	31,331,469 (GRCm39)	missense	probably benign	0.33
R1729:Nfrkb	UTSW	9	31,325,932 (GRCm39)	missense	probably benign	0.00
R1730:Nfrkb	UTSW	9	31,325,932 (GRCm39)	missense	probably benign	0.00
R1894:Nfrkb	UTSW	9	31,326,064 (GRCm39)	missense	probably benign	0.02
R1975:Nfrkb	UTSW	9	31,325,980 (GRCm39)	missense	possibly damaging	0.86
R2022:Nfrkb	UTSW	9	31,322,546 (GRCm39)	missense	probably benign	0.04
R2175:Nfrkb	UTSW	9	31,300,310 (GRCm39)	missense	possibly damaging	0.73
R3793:Nfrkb	UTSW	9	31,321,228 (GRCm39)	splice site	probably benign
R4020:Nfrkb	UTSW	9	31,325,407 (GRCm39)	missense	possibly damaging	0.96
R4425:Nfrkb	UTSW	9	31,311,258 (GRCm39)	missense	probably damaging	0.99
R4727:Nfrkb	UTSW	9	31,314,919 (GRCm39)	missense	probably damaging	0.99
R4730:Nfrkb	UTSW	9	31,321,547 (GRCm39)	missense	probably benign	0.33
R4775:Nfrkb	UTSW	9	31,330,345 (GRCm39)	missense	possibly damaging	0.86
R5032:Nfrkb	UTSW	9	31,300,351 (GRCm39)	splice site	probably null
R5532:Nfrkb	UTSW	9	31,309,075 (GRCm39)	missense	probably damaging	1.00
R5635:Nfrkb	UTSW	9	31,310,594 (GRCm39)	missense	probably damaging	0.98
R5712:Nfrkb	UTSW	9	31,325,932 (GRCm39)	missense	probably benign	0.00
R5720:Nfrkb	UTSW	9	31,306,038 (GRCm39)	missense	probably damaging	1.00
R6448:Nfrkb	UTSW	9	31,306,085 (GRCm39)	missense	probably damaging	1.00
R6543:Nfrkb	UTSW	9	31,312,281 (GRCm39)	nonsense	probably null
R6612:Nfrkb	UTSW	9	31,308,302 (GRCm39)	nonsense	probably null
R7087:Nfrkb	UTSW	9	31,331,228 (GRCm39)	nonsense	probably null
R7123:Nfrkb	UTSW	9	31,325,311 (GRCm39)	critical splice acceptor site	probably null
R7483:Nfrkb	UTSW	9	31,325,328 (GRCm39)	nonsense	probably null
R7875:Nfrkb	UTSW	9	31,321,450 (GRCm39)	missense	possibly damaging	0.53
R8336:Nfrkb	UTSW	9	31,314,815 (GRCm39)	missense	possibly damaging	0.64
R8370:Nfrkb	UTSW	9	31,316,875 (GRCm39)	missense	probably damaging	1.00
R8427:Nfrkb	UTSW	9	31,330,323 (GRCm39)	missense	probably benign	0.01
R8518:Nfrkb	UTSW	9	31,311,261 (GRCm39)	missense	probably damaging	0.99
R9607:Nfrkb	UTSW	9	31,326,066 (GRCm39)	missense	possibly damaging	0.73
R9627:Nfrkb	UTSW	9	31,321,189 (GRCm39)	missense	possibly damaging	0.96
R9679:Nfrkb	UTSW	9	31,321,385 (GRCm39)	missense	probably benign
T0975:Nfrkb	UTSW	9	31,308,379 (GRCm39)	missense	probably benign	0.04
Z1088:Nfrkb	UTSW	9	31,322,629 (GRCm39)	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