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

E330028A19Rik, Nalp-eta, Nalp4a

MMRRC Submission

Accession Numbers

Genbank: NM_172896; MGI: 2443697

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 26444136 bp (GRCm38)

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
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,439,210	C20Y	probably damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Pnp2	T	G	14: 50,963,416	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Rnh1	C	T	7: 141,162,433	R404H	probably benign	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Trim17	A	G	11: 58,971,176	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zcchc8	T	C	5: 123,707,299	N333D	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	probably damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26449985	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26457048	missense	probably benign
IGL01081:Nlrp4a	APN	7	26449829	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26454067	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26449969	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26475097	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26459692	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02197:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26449713	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26459815	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26449730	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26449509	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26464190	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26444341	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26450372	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26449232	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26462620	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26457130	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26453467	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26444435	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26464197	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26449651	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26450534	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26450186	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26450153	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26453397	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26449424	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26449894	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26464198	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26449230	splice site	probably null
R3812:Nlrp4a	UTSW	7	26449693	missense	probably benign
R4114:Nlrp4a	UTSW	7	26449940	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26449518	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26450229	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26464108	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26475090	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26450808	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26450419	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26462480	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26450492	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26459811	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26454153	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26457030	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26450164	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26453389	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26449396	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26449833	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26450438	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26444273	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26449538	missense	not run
R7548:Nlrp4a	UTSW	7	26450179	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26449245	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26449562	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26449265	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26450057	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26464146	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26450645	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26450794	missense	probably benign
R8477:Nlrp4a	UTSW	7	26459794	missense	probably benign
R8704:Nlrp4a	UTSW	7	26457138	missense	probably benign	0.02
R9220:Nlrp4a	UTSW	7	26450098	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26459652	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26444342	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26454163	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