Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Nlrp4a'

686538

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

Nalp-eta, E330028A19Rik, Nalp4a

MMRRC Submission

068609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26134538-26175100 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 26143561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068767] [ENSMUST00000119386] [ENSMUST00000146907]

AlphaFold

Q8BU40

Predicted Effect

probably benign
Transcript: ENSMUST00000068767

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	4.9e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119386

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	1.3e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146907

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	T	2: 103,823,022 (GRCm39)	T87K	possibly damaging	Het
Adar	G	A	3: 89,643,445 (GRCm39)	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,370,280 (GRCm39)	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,499,373 (GRCm39)	Y248N	probably benign	Het
Alpk2	A	T	18: 65,438,597 (GRCm39)	V932E	probably benign	Het
Apba3	T	A	10: 81,105,104 (GRCm39)	S126T	probably benign	Het
Brca2	T	A	5: 150,466,061 (GRCm39)	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,596,552 (GRCm39)	C20Y	probably damaging	Het
Cd63	C	A	10: 128,748,071 (GRCm39)	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807 (GRCm39)	E270G	probably damaging	Het
Cplane1	A	G	15: 8,216,744 (GRCm39)	Y654C	probably damaging	Het
Dgki	A	T	6: 36,996,875 (GRCm39)	D574E	probably damaging	Het
Esrrb	A	G	12: 86,517,056 (GRCm39)	S63G	probably damaging	Het
Exoc1	C	T	5: 76,683,412 (GRCm39)	R46C	probably damaging	Het
Fcgr4	C	A	1: 170,847,477 (GRCm39)	A25D	probably damaging	Het
Fgf4	T	C	7: 144,415,408 (GRCm39)	V56A	probably benign	Het
Gfpt2	A	G	11: 49,714,043 (GRCm39)	I267V	probably benign	Het
Gm20939	A	C	17: 95,184,648 (GRCm39)	H432P	probably damaging	Het
Gpr179	A	T	11: 97,242,739 (GRCm39)	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ildr1	T	C	16: 36,528,762 (GRCm39)	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,159,344 (GRCm39)	D421G	probably benign	Het
Mmp15	C	T	8: 96,096,288 (GRCm39)	Q360*	probably null	Het
Nfatc2	T	C	2: 168,378,214 (GRCm39)	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,258,095 (GRCm39)	V625L	probably benign	Het
Nme9	T	A	9: 99,350,301 (GRCm39)	I178N	probably damaging	Het
Nrp2	C	T	1: 62,788,356 (GRCm39)	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,686,990 (GRCm39)	I723V	probably damaging	Het
Or5p50	C	T	7: 107,422,557 (GRCm39)	V40M	possibly damaging	Het
Pias3	C	A	3: 96,612,201 (GRCm39)	Q553K	probably benign	Het
Pnp2	T	G	14: 51,200,873 (GRCm39)	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,459,295 (GRCm39)	D156E	probably benign	Het
Rint1	T	C	5: 24,005,594 (GRCm39)	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,993 (GRCm39)	M1K	probably null	Het
Rnh1	C	T	7: 140,742,346 (GRCm39)	R404H	probably benign	Het
Slc4a8	T	C	15: 100,705,134 (GRCm39)	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,678 (GRCm39)	C167S	probably benign	Het
Spart	A	G	3: 55,029,100 (GRCm39)	D297G	probably benign	Het
Spata13	C	T	14: 60,929,275 (GRCm39)	R278C	probably damaging	Het
Tmc1	T	C	19: 20,767,209 (GRCm39)	T716A	probably benign	Het
Tpi1	A	G	6: 124,789,483 (GRCm39)	V164A	probably damaging	Het
Trim17	A	G	11: 58,862,002 (GRCm39)	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,567,687 (GRCm39)	L327Q	probably damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr76	C	T	2: 121,357,484 (GRCm39)	T180I	probably benign	Het
Zcchc8	T	C	5: 123,845,362 (GRCm39)	N333D	probably benign	Het
Zfp516	T	C	18: 82,975,460 (GRCm39)	S553P	probably damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26,149,410 (GRCm39)	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26,156,473 (GRCm39)	missense	probably benign
IGL01081:Nlrp4a	APN	7	26,149,254 (GRCm39)	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26,153,492 (GRCm39)	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26,149,394 (GRCm39)	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26,174,522 (GRCm39)	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02193:Nlrp4a	APN	7	26,159,117 (GRCm39)	missense	probably damaging	1.00
IGL02197:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26,148,703 (GRCm39)	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26,149,138 (GRCm39)	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26,159,240 (GRCm39)	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26,149,155 (GRCm39)	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26,148,934 (GRCm39)	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26,163,615 (GRCm39)	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26,150,011 (GRCm39)	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26,150,011 (GRCm39)	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26,143,766 (GRCm39)	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26,149,062 (GRCm39)	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26,149,797 (GRCm39)	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26,161,941 (GRCm39)	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26,161,941 (GRCm39)	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26,148,657 (GRCm39)	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26,162,045 (GRCm39)	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26,156,555 (GRCm39)	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26,152,892 (GRCm39)	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26,143,860 (GRCm39)	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26,163,622 (GRCm39)	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26,149,076 (GRCm39)	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26,149,959 (GRCm39)	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26,149,611 (GRCm39)	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26,149,578 (GRCm39)	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26,152,822 (GRCm39)	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26,148,849 (GRCm39)	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26,149,319 (GRCm39)	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26,163,623 (GRCm39)	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26,148,655 (GRCm39)	splice site	probably null
R3812:Nlrp4a	UTSW	7	26,149,118 (GRCm39)	missense	probably benign
R4114:Nlrp4a	UTSW	7	26,149,365 (GRCm39)	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26,148,943 (GRCm39)	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26,149,654 (GRCm39)	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26,163,533 (GRCm39)	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26,174,515 (GRCm39)	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26,150,233 (GRCm39)	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26,149,844 (GRCm39)	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26,161,905 (GRCm39)	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26,149,917 (GRCm39)	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26,159,236 (GRCm39)	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26,153,578 (GRCm39)	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26,156,455 (GRCm39)	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26,149,589 (GRCm39)	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26,152,814 (GRCm39)	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26,148,821 (GRCm39)	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26,149,258 (GRCm39)	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26,149,863 (GRCm39)	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26,143,698 (GRCm39)	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26,148,963 (GRCm39)	missense	not run
R7548:Nlrp4a	UTSW	7	26,149,604 (GRCm39)	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26,148,670 (GRCm39)	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26,148,987 (GRCm39)	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26,148,690 (GRCm39)	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26,149,482 (GRCm39)	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26,150,011 (GRCm39)	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26,163,571 (GRCm39)	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26,150,070 (GRCm39)	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26,150,219 (GRCm39)	missense	probably benign
R8477:Nlrp4a	UTSW	7	26,159,219 (GRCm39)	missense	probably benign
R8704:Nlrp4a	UTSW	7	26,156,563 (GRCm39)	missense	probably benign	0.02
R9220:Nlrp4a	UTSW	7	26,149,523 (GRCm39)	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26,159,077 (GRCm39)	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26,149,062 (GRCm39)	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26,143,767 (GRCm39)	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26,153,588 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCCACTCCCAAAAGTTCTACATC -3'
(R):5'- CTGCAAAACCTCCTGTTTGAG -3'

Sequencing Primer
(F):5'- TCTTGCAGGCCAGACATATAG -3'
(R):5'- GGAACTCCTTAAACTTTACGAATTCC -3'

Posted On

2021-10-20