Mutagenetix > Incidental Mutations

Incidental Mutation 'R8417:Nlrp4b'

652994

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4b

Ensembl Gene

ENSMUSG00000034087

Gene Name

NLR family, pyrin domain containing 4B

Synonyms

Nalp4b, Nalp-gamma

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10687789-10730168 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 10725953 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 827 (C827*)

Ref Sequence

ENSEMBL: ENSMUSP00000043881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990] [ENSMUST00000211069]

Predicted Effect

probably null
Transcript: ENSMUST00000047809
AA Change: C827*

SMART Domains

Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: C827*

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	7.9e-40	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117413
AA Change: C827*

SMART Domains

Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: C827*

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	3.3e-39	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000132990
AA Change: C460*

SMART Domains

Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: C460*

Domain	Start	End	E-Value	Type
low complexity region	153	168	N/A	INTRINSIC
LRR	316	343	4.9e0	SMART
LRR	345	372	1.97e0	SMART
LRR	373	400	1.13e-4	SMART
LRR	402	429	1.93e1	SMART
LRR	430	457	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211069

Predicted Effect

probably null
Transcript: ENSMUST00000211258
AA Change: C122*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,529,085		probably null	Het
Adamtsl1	G	A	4: 86,156,689	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,488,053	T601A	probably benign	Het
Ankrd33	C	A	15: 101,119,449	Q248K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263	C155F	probably benign	Het
Clpp	T	C	17: 56,990,661	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,090,685	I89F	possibly damaging	Het
Fam227b	C	A	2: 126,121,062	W178L	probably damaging	Het
Fcna	C	A	2: 25,624,851	R332L	probably damaging	Het
Gdf3	T	G	6: 122,606,607	H267P	probably damaging	Het
Gm4450	G	A	3: 98,456,415	T38I	probably benign	Het
Gm5592	A	G	7: 41,288,551	D419G	probably benign	Het
Gm6882	A	G	7: 21,427,295	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,629,777	N78S	probably benign	Het
Hydin	T	C	8: 110,569,392	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,261,590	I942V	probably damaging	Het
Lamc1	A	G	1: 153,230,769	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,534,806	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,385	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,239,484	C232F	probably damaging	Het
Morc1	T	C	16: 48,460,740	V214A	probably damaging	Het
Olfr1086	A	G	2: 86,676,805	F176S	probably damaging	Het
Olfr358	T	A	2: 37,004,646	T323S	probably benign	Het
Pbrm1	T	A	14: 31,027,462	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,627,825	I944V	probably benign	Het
Prdm8	A	T	5: 98,184,531	D97V	probably damaging	Het
Preb	G	A	5: 30,960,117		probably benign	Het
Prkcd	T	C	14: 30,609,251	K56E	probably benign	Het
Slit3	A	T	11: 35,610,611	I391F	probably damaging	Het
Spata19	A	G	9: 27,397,970	S91G	probably benign	Het
Stag3	A	G	5: 138,308,588	T1134A	probably benign	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmtc2	A	T	10: 105,413,236	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,614,902	R133K	probably benign	Het
Trim43c	C	A	9: 88,843,138	Q238K	probably benign	Het
Vcan	T	C	13: 89,688,743	D2894G	probably benign	Het
Wisp3	T	A	10: 39,151,211	R342*	probably null	Het
Zeb2	C	T	2: 45,022,996	S105N	probably damaging	Het

Other mutations in Nlrp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Nlrp4b	APN	7	10714955	missense	possibly damaging	0.68
IGL01456:Nlrp4b	APN	7	10714223	missense	probably benign	0.26
IGL01537:Nlrp4b	APN	7	10714991	missense	probably damaging	1.00
IGL02539:Nlrp4b	APN	7	10714428	missense	probably damaging	0.96
IGL02730:Nlrp4b	APN	7	10714758	missense	probably damaging	1.00
IGL02871:Nlrp4b	APN	7	10715265	missense	probably benign	0.26
IGL03008:Nlrp4b	APN	7	10714589	missense	probably benign	0.00
IGL03109:Nlrp4b	APN	7	10714946	missense	probably damaging	1.00
IGL03251:Nlrp4b	APN	7	10714500	missense	probably benign	0.01
IGL03354:Nlrp4b	APN	7	10714538	missense	probably damaging	0.99
R0052:Nlrp4b	UTSW	7	10725962	nonsense	probably null
R0348:Nlrp4b	UTSW	7	10715181	missense	possibly damaging	0.60
R0564:Nlrp4b	UTSW	7	10714658	missense	probably benign	0.15
R0573:Nlrp4b	UTSW	7	10714215	missense	probably benign	0.01
R0581:Nlrp4b	UTSW	7	10714530	missense	probably damaging	1.00
R1201:Nlrp4b	UTSW	7	10715436	missense	possibly damaging	0.64
R1541:Nlrp4b	UTSW	7	10725052	missense	possibly damaging	0.91
R1771:Nlrp4b	UTSW	7	10718593	missense	probably damaging	0.96
R1781:Nlrp4b	UTSW	7	10715339	missense	probably benign	0.13
R1833:Nlrp4b	UTSW	7	10725936	missense	probably benign	0.00
R2405:Nlrp4b	UTSW	7	10714728	missense	probably benign	0.08
R2871:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2871:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2873:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2904:Nlrp4b	UTSW	7	10714367	missense	probably damaging	1.00
R3410:Nlrp4b	UTSW	7	10715529	missense	probably damaging	1.00
R3714:Nlrp4b	UTSW	7	10714881	missense	probably benign	0.04
R3982:Nlrp4b	UTSW	7	10714431	missense	possibly damaging	0.95
R4668:Nlrp4b	UTSW	7	10714733	missense	possibly damaging	0.66
R4690:Nlrp4b	UTSW	7	10719203	missense	probably benign	0.00
R4857:Nlrp4b	UTSW	7	10715298	missense	probably benign	0.05
R5247:Nlrp4b	UTSW	7	10714218	missense	probably benign	0.21
R5381:Nlrp4b	UTSW	7	10715245	nonsense	probably null
R5529:Nlrp4b	UTSW	7	10714946	missense	possibly damaging	0.91
R5589:Nlrp4b	UTSW	7	10715585	missense	probably benign	0.34
R5770:Nlrp4b	UTSW	7	10715487	missense	probably benign	0.00
R5990:Nlrp4b	UTSW	7	10714491	missense	possibly damaging	0.61
R6049:Nlrp4b	UTSW	7	10714713	nonsense	probably null
R6329:Nlrp4b	UTSW	7	10724920	missense	probably benign	0.16
R6377:Nlrp4b	UTSW	7	10715412	missense	probably benign	0.00
R7107:Nlrp4b	UTSW	7	10715217	missense	probably damaging	0.96
R7209:Nlrp4b	UTSW	7	10710370	missense	probably benign	0.01
R7237:Nlrp4b	UTSW	7	10715216	missense	probably benign	0.12
R7537:Nlrp4b	UTSW	7	10714889	missense	probably benign	0.05
R7793:Nlrp4b	UTSW	7	10725074	missense	probably benign	0.00
R8138:Nlrp4b	UTSW	7	10715531	missense	probably benign	0.01
R8190:Nlrp4b	UTSW	7	10714392	missense	probably damaging	0.96
R8326:Nlrp4b	UTSW	7	10718544	missense	probably benign	0.05
R8353:Nlrp4b	UTSW	7	10715601	missense	probably damaging	0.99
R8453:Nlrp4b	UTSW	7	10715601	missense	probably damaging	0.99
X0063:Nlrp4b	UTSW	7	10729587	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTACCCTGGCAAAGAACTTCC -3'
(R):5'- TCCCTCAGTGAAAGGTGGAG -3'

Sequencing Primer
(F):5'- CTGGCAAAGAACTTCCTTTTTGTTG -3'
(R):5'- GCAGTATTATCATTGCTGTGACC -3'

Posted On

2020-10-20