Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02944:Nlrp9a'

364653

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 #

IGL02944

Quality Score

Status

Chromosome

Chromosomal Location

26234448-26273573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26258076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 565 (T565S)

Ref Sequence

ENSEMBL: ENSMUSP00000112398 (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: T565S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: T565S

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: T565S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: T565S

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: T565S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: T565S

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: T565S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: T565S

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: T476S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: T476S

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,258,405 (GRCm39)	Q343R	probably benign	Het
Antxr1	T	A	6: 87,165,141 (GRCm39)	N432I	possibly damaging	Het
Arhgap15	T	C	2: 44,032,362 (GRCm39)		probably null	Het
Atp6v1h	T	A	1: 5,163,578 (GRCm39)		probably benign	Het
Cav2	T	C	6: 17,281,456 (GRCm39)	Y33H	probably damaging	Het
Ccdc175	T	A	12: 72,164,667 (GRCm39)	D585V	probably benign	Het
Coro7	T	C	16: 4,453,276 (GRCm39)	D271G	probably benign	Het
Cylc1	T	A	X: 110,167,373 (GRCm39)	D551E	possibly damaging	Het
Dnah1	A	T	14: 31,022,828 (GRCm39)	I1103N	possibly damaging	Het
Gmds	T	A	13: 32,522,435 (GRCm39)	Y11F	probably benign	Het
Igkv13-54-1	C	T	6: 69,594,374 (GRCm39)		noncoding transcript	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Mageb11	A	G	X: 89,935,868 (GRCm39)	K41E	probably benign	Het
Mbd1	G	A	18: 74,410,481 (GRCm39)	G428E	probably damaging	Het
Myom2	A	T	8: 15,154,065 (GRCm39)		probably null	Het
Nav2	C	T	7: 49,070,004 (GRCm39)	R287W	probably damaging	Het
Nfs1	C	T	2: 155,969,688 (GRCm39)	D320N	probably damaging	Het
Nod1	A	T	6: 54,901,932 (GRCm39)	I951N	possibly damaging	Het
Or1n1b	T	G	2: 36,780,800 (GRCm39)	E20A	possibly damaging	Het
Or2ag1b	A	G	7: 106,288,476 (GRCm39)	L154P	probably damaging	Het
Or52e8b	A	G	7: 104,674,130 (GRCm39)	L19P	probably damaging	Het
Or8d2	A	T	9: 38,760,048 (GRCm39)	I213F	possibly damaging	Het
Pkhd1l1	T	C	15: 44,364,927 (GRCm39)	Y689H	probably damaging	Het
Ppp2r5c	A	G	12: 110,534,234 (GRCm39)	I366V	probably benign	Het
Ppp3cb	T	C	14: 20,578,303 (GRCm39)	Y149C	probably damaging	Het
Prdm1	T	C	10: 44,317,807 (GRCm39)	S354G	probably benign	Het
Ralgapa1	T	A	12: 55,804,736 (GRCm39)	Q520L	probably benign	Het
Slc25a54	A	T	3: 108,987,931 (GRCm39)	Y24F	probably benign	Het
Slfn3	T	A	11: 83,103,837 (GRCm39)	V236E	probably damaging	Het
Syt6	A	G	3: 103,482,865 (GRCm39)		probably benign	Het
Trim30a	G	T	7: 104,084,984 (GRCm39)	N75K	probably benign	Het
Vmn1r175	T	C	7: 23,508,591 (GRCm39)	E12G	probably damaging	Het
Xylt1	A	T	7: 117,233,984 (GRCm39)	T504S	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
IGL02449:Nlrp9a	APN	7	26,264,396 (GRCm39)	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26,264,381 (GRCm39)	missense	possibly damaging	0.67
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

2015-12-18