Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02960:Nlrp4a'

365296

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

Genbank: NM_172896; MGI: 2443697

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02960

Quality Score

Status

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26449730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 254 (Q254R)

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: Q254R

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: Q254R

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: Q254R

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: Q254R

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: Q254R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,808	R14C	probably benign	Het
Adam29	A	T	8: 55,872,666	L251*	probably null	Het
Atpaf2	T	C	11: 60,405,824	E161G	probably damaging	Het
Brwd1	T	C	16: 96,057,466	D381G	probably damaging	Het
Cept1	T	A	3: 106,539,396	R45*	probably null	Het
Col3a1	A	G	1: 45,328,455	E273G	unknown	Het
Cuzd1	T	C	7: 131,320,103	N57D	probably benign	Het
Cyp2b13	A	G	7: 26,061,676	K53E	probably benign	Het
Fadd	T	C	7: 144,580,539	E203G	probably benign	Het
Gm14548	T	C	7: 3,897,079	T175A	possibly damaging	Het
Gm3159	G	A	14: 4,400,552		probably null	Het
Gpr137c	T	C	14: 45,246,433	F206L	possibly damaging	Het
Hephl1	G	T	9: 15,084,319	T471N	probably damaging	Het
Ido1	A	T	8: 24,593,329		probably benign	Het
Krt40	C	T	11: 99,539,867		probably null	Het
Lrp2	T	A	2: 69,455,453		probably benign	Het
Lrrc8a	T	A	2: 30,257,013	L613H	probably damaging	Het
Mettl14	A	G	3: 123,374,885	Y169H	probably damaging	Het
Olfr1211	A	C	2: 88,929,784	M177R	possibly damaging	Het
Olfr1356	A	T	10: 78,847,537	I126N	probably damaging	Het
Pkhd1	A	T	1: 20,377,446	M2241K	possibly damaging	Het
Ptprd	G	A	4: 76,128,868	S387L	probably damaging	Het
Ryr1	A	C	7: 29,060,053	L3264R	probably damaging	Het
Serpina16	G	A	12: 103,675,379	T29I	probably benign	Het
Slc9a7	A	G	X: 20,186,143	M237T	probably benign	Het
Tbck	A	G	3: 132,722,783	T300A	probably benign	Het
Tcaf1	A	C	6: 42,686,459	D162E	probably benign	Het
Unc80	G	A	1: 66,678,058		probably benign	Het
Usp17le	A	C	7: 104,768,740	H398Q	probably benign	Het
Utp15	G	A	13: 98,252,881	T303M	probably benign	Het
Vmn2r86	A	C	10: 130,453,767	D86E	possibly damaging	Het
Zmym2	T	A	14: 56,938,413	C822S	probably benign	Het
Zp3r	T	C	1: 130,583,438	D336G	possibly damaging	Het
Zpr1	A	G	9: 46,273,551	H82R	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
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
R8791:Nlrp4a	UTSW	7	26444136	splice site	probably benign
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

Posted On

2015-12-18