Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Nlrp4a'

302417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

Nalp-eta, E330028A19Rik, Nalp4a

Accession Numbers

Essential gene?

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

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

26134538-26175100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26149138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 248 (D248E)

Ref Sequence

ENSEMBL: ENSMUSP00000112441 (fasta)

Gene Model

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

AlphaFold

Q8BU40

Predicted Effect

probably benign
Transcript: ENSMUST00000068767
AA Change: D248E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: D248E

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
AA Change: D248E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: D248E

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

noncoding transcript
Transcript: ENSMUST00000146534

Predicted Effect

probably benign
Transcript: ENSMUST00000146907
AA Change: D248E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,386 (GRCm39)	Y946F	probably benign	Het
Abcb4	T	G	5: 8,984,240 (GRCm39)	W657G	probably benign	Het
Adcy1	T	C	11: 7,088,279 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,124,047 (GRCm39)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,153,201 (GRCm39)	Y89S	probably benign	Het
Carns1	C	T	19: 4,223,083 (GRCm39)	C47Y	probably benign	Het
Chd5	C	T	4: 152,445,050 (GRCm39)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,957,807 (GRCm39)	T481A	probably benign	Het
Cyth1	T	A	11: 118,073,072 (GRCm39)	D264V	probably damaging	Het
Dph1	C	A	11: 75,071,461 (GRCm39)	L311F	probably benign	Het
Eif3l	A	G	15: 78,961,142 (GRCm39)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,976,146 (GRCm39)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,766,748 (GRCm39)	T770S	unknown	Het
Hydin	A	T	8: 111,139,908 (GRCm39)	I726F	possibly damaging	Het
Klf2	A	G	8: 73,072,940 (GRCm39)	I7V	probably benign	Het
Ltn1	A	T	16: 87,212,662 (GRCm39)	L633H	probably damaging	Het
Ncoa3	A	G	2: 165,893,313 (GRCm39)	D206G	probably benign	Het
Nyap1	A	G	5: 137,733,746 (GRCm39)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,267,072 (GRCm39)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,256,982 (GRCm39)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,633,537 (GRCm39)	M278T	probably benign	Het
Or8s16	A	G	15: 98,211,237 (GRCm39)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,296,254 (GRCm39)	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,792,689 (GRCm39)	F217I	probably benign	Het
Plxna4	A	T	6: 32,162,346 (GRCm39)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,091 (GRCm39)	Y239C	probably benign	Het
Psma6	A	G	12: 55,458,996 (GRCm39)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,551,141 (GRCm39)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,663,240 (GRCm39)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm39)	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,765,613 (GRCm39)	N345I	probably benign	Het
Sncaip	T	C	18: 53,028,027 (GRCm39)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,178,530 (GRCm39)	I864N	probably damaging	Het
Spag5	C	T	11: 78,212,157 (GRCm39)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Szrd1	A	G	4: 140,867,057 (GRCm39)		probably benign	Het
Tns2	C	A	15: 102,016,231 (GRCm39)		probably benign	Het
Trcg1	C	A	9: 57,149,511 (GRCm39)	S361*	probably null	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,280,090 (GRCm39)	V124A	probably damaging	Het
Ttf1	T	C	2: 28,964,023 (GRCm39)	I633T	probably damaging	Het
Zfp691	A	G	4: 119,027,704 (GRCm39)	F176S	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
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
R8791:Nlrp4a	UTSW	7	26,143,561 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16