Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Nlrp9a'

32635

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9a

Ensembl Gene

ENSMUSG00000054102

Gene Name

NLR family, pyrin domain containing 9A

Synonyms

Nalp9a, Nalp-theta, D7Ertd565e

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0013 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 26571225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071780] [ENSMUST00000108387] [ENSMUST00000117252] [ENSMUST00000122040] [ENSMUST00000153452]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000071780

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108387

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	7.7e-33	PFAM
LRR	631	658	1.42e0	SMART
LRR	692	719	1.42e0	SMART
LRR	748	775	2.32e-1	SMART
LRR	777	804	3e0	SMART
LRR	805	832	1.12e-3	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.27e-4	SMART
LRR	891	918	2.02e2	SMART
LRR	919	946	6.24e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117252

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	8.8e-34	PFAM
LRR	637	664	1.42e0	SMART
Blast:LRR	666	692	1e-5	BLAST
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.39e0	SMART
LRR	807	834	6.24e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122040

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153452

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102

Domain	Start	End	E-Value	Type
Pfam:NACHT	54	222	6.9e-33	PFAM
LRR	542	569	1.42e0	SMART
LRR	603	630	1.42e0	SMART
Blast:LRR	632	657	1e-5	BLAST
LRR	659	686	2.32e-1	SMART
LRR	688	715	3e0	SMART
LRR	716	743	1.12e-3	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly damaging	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26557625	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26558678	missense	probably benign
IGL01081:Nlrp9a	APN	7	26558094	missense	possibly damaging	0.51
IGL01148:Nlrp9a	APN	7	26557581	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26557874	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26557264	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26558019	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26557893	missense	probably benign	0.02
IGL02449:Nlrp9a	APN	7	26564971	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26564956	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26558651	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26557457	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26573788	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0086:Nlrp9a	UTSW	7	26558547	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26560741	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26567891	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26558668	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26570507	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26564941	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26573913	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26564929	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26573852	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26571385	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26557332	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26564852	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26558550	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26570646	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26571407	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26557441	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26550944	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26570539	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26557386	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26571278	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26557292	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26557829	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26558568	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26570640	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26558085	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26567977	missense	probably benign	0.41
R6171:Nlrp9a	UTSW	7	26558763	missense	possibly damaging	0.71
R6352:Nlrp9a	UTSW	7	26557626	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26550886	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26557392	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26567942	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26557247	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26558178	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26551038	missense	probably damaging	0.98
R7226:Nlrp9a	UTSW	7	26558724	missense	probably benign	0.02
R7250:Nlrp9a	UTSW	7	26558718	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26571269	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26557656	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26557296	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26562581	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26560835	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26557253	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26565006	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26557500	missense	probably benign
R8774:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26558278	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9031:Nlrp9a	UTSW	7	26558273	missense	probably damaging	1.00
R9063:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9196:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26558231	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26558613	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9384:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26570605	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26560753	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26551044	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26575608	missense	unknown
R9728:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26567841	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26564877	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26558229	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26557456	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTTAAGAAGTCCAACTAGCATAGGC -3'
(R):5'- TTCCTGACCATGAGAGGCAGTGTG -3'

Sequencing Primer
(F):5'- agtctttctgccccttcttc -3'
(R):5'- AGCACCTCCAGGTTACAGG -3'

Posted On

2013-05-09