Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Nlrp4a'

284518

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

Essential gene?

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

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26449278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 103 (K103N)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

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

AlphaFold

Q8BU40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068767
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000119386
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000146907
AA Change: K103N

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	T	2: 132,691,946		probably benign	Het
Adamtsl2	A	G	2: 27,102,981	E702G	probably damaging	Het
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581		probably null	Het
Chrnb4	T	C	9: 55,035,216	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792		probably null	Het
Commd3	T	C	2: 18,674,008		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748		probably benign	Het
Fat4	T	C	3: 38,951,263	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119		probably null	Het
Flg2	A	T	3: 93,220,128	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244		probably null	Het
Ift140	A	G	17: 25,055,598	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702		probably null	Het
Kif18a	A	T	2: 109,296,707	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435	V1768G	probably damaging	Het
Nek9	A	T	12: 85,303,483	L939*	probably null	Het
Nfe2l2	A	G	2: 75,678,525	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657	M270V	probably damaging	Het
Nrde2	T	C	12: 100,130,931	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678		probably null	Het
Plcb1	A	G	2: 135,387,171	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,718,885	D394G	possibly damaging	Het
Snx29	T	G	16: 11,738,352	M407R	probably damaging	Het
Syf2	A	G	4: 134,935,052		probably null	Het
Syn1	T	C	X: 20,865,137	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785		probably benign	Het
Trav6-2	G	A	14: 52,667,432	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465		probably null	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
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
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

2015-04-16