Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02449:Nlrp9a'

294063

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

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02449

Quality Score

Status

Chromosome

Chromosomal Location

26234448-26273573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26264396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 683 (M683T)

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 benign
Transcript: ENSMUST00000071780
AA Change: M717T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: M717T

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: ENSMUST00000108387
AA Change: M772T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: M772T

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 benign
Transcript: ENSMUST00000117252
AA Change: M717T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: M717T

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 benign
Transcript: ENSMUST00000122040
AA Change: M717T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: M717T

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 benign
Transcript: ENSMUST00000153452
AA Change: M683T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: M683T

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,440,908 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,971 (GRCm39)	T1462A	probably damaging	Het
Arl6ip6	T	C	2: 53,082,538 (GRCm39)		probably benign	Het
Ascc3	A	T	10: 50,576,695 (GRCm39)	Q883H	probably benign	Het
Atp11a	T	A	8: 12,807,358 (GRCm39)		probably null	Het
Cds1	G	A	5: 101,963,794 (GRCm39)	G371D	probably damaging	Het
Col12a1	A	G	9: 79,548,751 (GRCm39)	L2198P	probably damaging	Het
Cyp2d22	C	T	15: 82,257,442 (GRCm39)	G241D	probably benign	Het
Dapk1	T	C	13: 60,867,584 (GRCm39)		probably benign	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,894,234 (GRCm39)	V186A	probably benign	Het
Gm9637	T	A	14: 19,402,436 (GRCm38)		noncoding transcript	Het
Gpr180	T	C	14: 118,397,532 (GRCm39)	L342P	probably damaging	Het
Heg1	T	C	16: 33,559,095 (GRCm39)		probably null	Het
Kcnab2	C	A	4: 152,496,441 (GRCm39)		probably null	Het
Lax1	A	G	1: 133,607,874 (GRCm39)	V289A	probably damaging	Het
Ly6k	T	G	15: 74,668,934 (GRCm39)	D115A	probably benign	Het
Mcc	A	C	18: 44,593,025 (GRCm39)	I670S	probably benign	Het
Mpdz	C	A	4: 81,247,659 (GRCm39)		probably null	Het
Mrgprb8	T	A	7: 48,038,431 (GRCm39)	L34*	probably null	Het
Mtor	T	A	4: 148,618,378 (GRCm39)	H1730Q	possibly damaging	Het
Muc4	C	T	16: 32,576,503 (GRCm39)		probably benign	Het
Myh8	T	C	11: 67,185,440 (GRCm39)		probably null	Het
Naip5	A	T	13: 100,358,683 (GRCm39)	V851E	probably benign	Het
Neb	T	C	2: 52,091,918 (GRCm39)	I1277V	probably benign	Het
Npr2	A	G	4: 43,646,641 (GRCm39)	Y663C	probably damaging	Het
Padi3	C	T	4: 140,517,023 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,565,357 (GRCm39)	D41G	probably damaging	Het
Pds5a	A	T	5: 65,776,353 (GRCm39)	N80K	probably damaging	Het
Plec	C	T	15: 76,070,963 (GRCm39)	D812N	possibly damaging	Het
Psg20	A	T	7: 18,418,333 (GRCm39)		probably benign	Het
Ptch2	C	A	4: 116,965,380 (GRCm39)	L322I	possibly damaging	Het
Ptprv	T	C	1: 135,039,074 (GRCm39)		noncoding transcript	Het
Scn2b	A	G	9: 45,036,812 (GRCm39)	K107E	probably damaging	Het
Slc24a4	A	C	12: 102,193,341 (GRCm39)	I226L	probably benign	Het
Spink4	A	G	4: 40,929,190 (GRCm39)	M72V	probably benign	Het
Supt16	A	T	14: 52,411,263 (GRCm39)	M676K	possibly damaging	Het
Svep1	A	C	4: 58,070,296 (GRCm39)	C2497G	possibly damaging	Het
Tenm2	T	A	11: 35,914,449 (GRCm39)	T2362S	probably damaging	Het
Tgm3	G	T	2: 129,880,529 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,968,381 (GRCm39)	T462S	probably damaging	Het
Ucp2	G	A	7: 100,148,017 (GRCm39)	V237M	probably damaging	Het
Vmn2r53	C	A	7: 12,316,288 (GRCm39)	L510F	probably damaging	Het
Zan	G	A	5: 137,387,589 (GRCm39)	T4874M	unknown	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp974	T	A	7: 27,611,152 (GRCm39)	Y191F	probably benign	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26,257,050 (GRCm39)	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26,258,103 (GRCm39)	missense	probably benign
IGL01081:Nlrp9a	APN	7	26,257,519 (GRCm39)	missense	possibly damaging	0.51
IGL01148:Nlrp9a	APN	7	26,257,006 (GRCm39)	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26,257,299 (GRCm39)	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26,256,689 (GRCm39)	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26,257,444 (GRCm39)	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26,257,318 (GRCm39)	missense	probably benign	0.02
IGL02702:Nlrp9a	APN	7	26,264,381 (GRCm39)	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26,258,076 (GRCm39)	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26,256,882 (GRCm39)	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26,273,213 (GRCm39)	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0013:Nlrp9a	UTSW	7	26,270,650 (GRCm39)	splice site	probably null
R0086:Nlrp9a	UTSW	7	26,257,972 (GRCm39)	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26,260,166 (GRCm39)	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26,267,316 (GRCm39)	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26,258,093 (GRCm39)	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26,269,932 (GRCm39)	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26,264,366 (GRCm39)	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26,273,338 (GRCm39)	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26,264,354 (GRCm39)	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26,273,277 (GRCm39)	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26,270,810 (GRCm39)	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26,256,757 (GRCm39)	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26,264,277 (GRCm39)	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26,257,975 (GRCm39)	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26,270,071 (GRCm39)	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26,270,832 (GRCm39)	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26,256,866 (GRCm39)	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26,250,369 (GRCm39)	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26,269,964 (GRCm39)	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26,256,811 (GRCm39)	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26,270,703 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26,256,717 (GRCm39)	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26,257,254 (GRCm39)	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26,257,993 (GRCm39)	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26,270,065 (GRCm39)	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26,257,510 (GRCm39)	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26,267,402 (GRCm39)	missense	probably benign	0.41
R6171:Nlrp9a	UTSW	7	26,258,188 (GRCm39)	missense	possibly damaging	0.71
R6352:Nlrp9a	UTSW	7	26,257,051 (GRCm39)	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26,250,311 (GRCm39)	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26,256,817 (GRCm39)	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26,267,367 (GRCm39)	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26,256,672 (GRCm39)	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26,257,603 (GRCm39)	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26,250,463 (GRCm39)	missense	probably damaging	0.98
R7226:Nlrp9a	UTSW	7	26,258,149 (GRCm39)	missense	probably benign	0.02
R7250:Nlrp9a	UTSW	7	26,258,143 (GRCm39)	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26,270,694 (GRCm39)	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26,257,081 (GRCm39)	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26,256,721 (GRCm39)	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26,262,006 (GRCm39)	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26,260,260 (GRCm39)	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26,256,678 (GRCm39)	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26,264,431 (GRCm39)	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26,256,925 (GRCm39)	missense	probably benign
R8774:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26,257,703 (GRCm39)	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9031:Nlrp9a	UTSW	7	26,257,698 (GRCm39)	missense	probably damaging	1.00
R9063:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9196:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26,257,656 (GRCm39)	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26,258,038 (GRCm39)	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9384:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26,270,030 (GRCm39)	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26,260,178 (GRCm39)	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26,250,469 (GRCm39)	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26,275,033 (GRCm39)	missense	unknown
R9728:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26,267,266 (GRCm39)	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26,264,302 (GRCm39)	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26,257,654 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26,256,881 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16