Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01368:Nlrp9a'

76008

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9a

Ensembl Gene

ENSMUSG00000054102

Gene Name

NLR family, pyrin domain containing 9A

Synonyms

Nalp9a, Nalp-theta, D7Ertd565e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26557874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 217 (S217P)

Ref Sequence

ENSEMBL: ENSMUSP00000120498 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071780
AA Change: S306P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: S306P

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 damaging
Transcript: ENSMUST00000108387
AA Change: S306P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: S306P

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

possibly damaging
Transcript: ENSMUST00000117252
AA Change: S306P

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: S306P

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 damaging
Transcript: ENSMUST00000122040
AA Change: S306P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: S306P

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

noncoding transcript
Transcript: ENSMUST00000143149

Predicted Effect

probably damaging
Transcript: ENSMUST00000153452
AA Change: S217P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: S217P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,051,334	D93E	probably damaging	Het
Adam22	T	C	5: 8,127,411	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,534,229		probably benign	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,957,447	W133R	probably damaging	Het
Ckm	C	T	7: 19,416,787	Q184*	probably null	Het
Clk4	T	A	11: 51,281,172	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,369,068	S121P	probably damaging	Het
Gm5039	C	T	12: 88,321,088	D132N	unknown	Het
Gm5771	A	G	6: 41,396,686	D161G	possibly damaging	Het
Gm8011	T	C	14: 42,465,874		probably benign	Het
Gpr153	T	C	4: 152,282,994	F434S	probably benign	Het
Gpr158	G	T	2: 21,827,098	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,390	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,425,610	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,150,389	F395L	probably benign	Het
Myof	T	A	19: 37,936,457	T1161S	probably damaging	Het
Nol9	T	A	4: 152,058,391	N687K	probably benign	Het
Olfr287	T	C	15: 98,207,500	I295V	probably damaging	Het
Olfr697	T	C	7: 106,741,622	E104G	probably benign	Het
Olfr748	T	C	14: 50,710,993	V221A	possibly damaging	Het
Olfr952	A	T	9: 39,426,180	V297D	probably damaging	Het
Rrh	T	C	3: 129,808,969	D229G	probably benign	Het
Sclt1	T	C	3: 41,711,175	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,839,124	V127I	probably damaging	Het
Smarca2	C	T	19: 26,774,294	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,970,232	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,941,131		probably benign	Het
Vmn1r228	A	G	17: 20,776,512	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,941,506		probably null	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
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
R0013:Nlrp9a	UTSW	7	26571225	splice site	probably null
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

Posted On

2013-10-07