Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02743:Nlrp4a'

305991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

E330028A19Rik, Nalp-eta, Nalp4a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02743

Quality Score

Status

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 26459815 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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	A	C	5: 88,464,484 (GRCm38)	D188A	probably damaging	Het
Arfgef1	T	C	1: 10,199,829 (GRCm38)	E365G	probably benign	Het
Arhgef10	C	T	8: 14,930,198 (GRCm38)	A146V	probably benign	Het
AW554918	C	T	18: 25,289,944 (GRCm38)	Q151*	probably null	Het
Chd6	T	C	2: 160,960,263 (GRCm38)	D2217G	probably damaging	Het
Cntn5	T	A	9: 9,984,110 (GRCm38)	E166V	probably damaging	Het
Cyp4f15	T	C	17: 32,699,952 (GRCm38)	S319P	possibly damaging	Het
Dna2	G	A	10: 62,957,042 (GRCm38)	V279I	possibly damaging	Het
Edrf1	A	G	7: 133,656,491 (GRCm38)		probably benign	Het
Fmo3	A	T	1: 162,958,483 (GRCm38)	F313I	probably damaging	Het
Kcnj10	A	G	1: 172,369,654 (GRCm38)	D245G	possibly damaging	Het
Lrsam1	T	C	2: 32,928,649 (GRCm38)		probably null	Het
Mfn1	A	T	3: 32,574,290 (GRCm38)	H690L	probably benign	Het
Msh2	T	C	17: 87,707,215 (GRCm38)	F474L	probably damaging	Het
Olfr1295	T	A	2: 111,564,543 (GRCm38)	R300S	possibly damaging	Het
Olfr1424	A	G	19: 12,059,447 (GRCm38)	F102L	probably damaging	Het
Olfr314	T	A	11: 58,786,780 (GRCm38)	L182*	probably null	Het
Olfr561	T	A	7: 102,775,298 (GRCm38)	I258N	probably damaging	Het
Olfr668	T	C	7: 104,924,868 (GRCm38)	T299A	probably damaging	Het
Olfr955	G	A	9: 39,470,246 (GRCm38)	T160I	probably benign	Het
Plcxd3	G	A	15: 4,574,803 (GRCm38)	V298I	possibly damaging	Het
Prrc2b	C	T	2: 32,194,429 (GRCm38)	S302F	probably damaging	Het
Serpine2	A	T	1: 79,801,555 (GRCm38)	F149I	probably damaging	Het
Slc24a5	T	C	2: 125,088,234 (GRCm38)	L485P	probably damaging	Het
Spg11	T	A	2: 122,059,507 (GRCm38)	H2118L	probably damaging	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Stxbp1	T	C	2: 32,819,901 (GRCm38)	D60G	probably damaging	Het
Themis2	T	A	4: 132,783,484 (GRCm38)	E582D	probably benign	Het
Tmem131	T	G	1: 36,793,151 (GRCm38)	I1802L	probably benign	Het
Tnrc6a	A	G	7: 123,171,473 (GRCm38)	K829E	probably damaging	Het
Usp8	T	C	2: 126,734,023 (GRCm38)	M213T	probably damaging	Het
Wnk2	A	G	13: 49,095,444 (GRCm38)	V377A	probably damaging	Het
Wwox	T	G	8: 115,351,704 (GRCm38)	Y375D	probably damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26,449,985 (GRCm38)	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26,457,048 (GRCm38)	missense	probably benign
IGL01081:Nlrp4a	APN	7	26,449,829 (GRCm38)	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26,454,067 (GRCm38)	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26,449,969 (GRCm38)	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26,475,097 (GRCm38)	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02193:Nlrp4a	APN	7	26,459,692 (GRCm38)	missense	probably damaging	1.00
IGL02197:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26,449,713 (GRCm38)	missense	probably benign	0.43
IGL02960:Nlrp4a	APN	7	26,449,730 (GRCm38)	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26,449,509 (GRCm38)	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26,464,190 (GRCm38)	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26,444,341 (GRCm38)	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26,450,372 (GRCm38)	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26,449,232 (GRCm38)	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26,462,620 (GRCm38)	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26,457,130 (GRCm38)	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26,453,467 (GRCm38)	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26,444,435 (GRCm38)	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26,464,197 (GRCm38)	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26,449,651 (GRCm38)	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26,450,534 (GRCm38)	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26,450,186 (GRCm38)	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26,450,153 (GRCm38)	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26,453,397 (GRCm38)	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26,449,424 (GRCm38)	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26,449,894 (GRCm38)	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26,464,198 (GRCm38)	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26,449,230 (GRCm38)	splice site	probably null
R3812:Nlrp4a	UTSW	7	26,449,693 (GRCm38)	missense	probably benign
R4114:Nlrp4a	UTSW	7	26,449,940 (GRCm38)	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26,449,518 (GRCm38)	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26,450,229 (GRCm38)	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26,464,108 (GRCm38)	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26,475,090 (GRCm38)	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26,450,808 (GRCm38)	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26,450,419 (GRCm38)	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26,462,480 (GRCm38)	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26,450,492 (GRCm38)	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26,459,811 (GRCm38)	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26,454,153 (GRCm38)	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26,457,030 (GRCm38)	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26,450,164 (GRCm38)	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26,453,389 (GRCm38)	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26,449,396 (GRCm38)	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26,449,833 (GRCm38)	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26,450,438 (GRCm38)	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26,444,273 (GRCm38)	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26,449,538 (GRCm38)	missense	not run
R7548:Nlrp4a	UTSW	7	26,450,179 (GRCm38)	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26,449,245 (GRCm38)	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26,449,562 (GRCm38)	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26,449,265 (GRCm38)	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26,450,057 (GRCm38)	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26,464,146 (GRCm38)	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26,450,645 (GRCm38)	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26,450,794 (GRCm38)	missense	probably benign
R8477:Nlrp4a	UTSW	7	26,459,794 (GRCm38)	missense	probably benign
R8704:Nlrp4a	UTSW	7	26,457,138 (GRCm38)	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26,444,136 (GRCm38)	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26,450,098 (GRCm38)	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26,459,652 (GRCm38)	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26,444,342 (GRCm38)	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26,454,163 (GRCm38)	missense	probably benign	0.01

Posted On

2015-04-16