Mutagenetix > Incidental Mutation

Incidental Mutation 'R1594:Nlrp9a'

175559

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

039631-MU

Accession Numbers

Essential gene?

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

Stock #

R1594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26234448-26273573 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 26269932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 786 (W786*)

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
AA Change: W786*

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: W786*

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
AA Change: W841*

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: W841*

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

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
AA Change: W786*

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: W786*

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: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	G	A	16: 30,946,205 (GRCm39)	A264V	probably benign	Het
Adam17	A	G	12: 21,390,471 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,352,602 (GRCm39)	N479D	probably benign	Het
C2cd2l	A	G	9: 44,228,070 (GRCm39)	S84P	probably damaging	Het
Capn13	A	G	17: 73,658,474 (GRCm39)	V198A	probably benign	Het
Cblc	G	A	7: 19,526,471 (GRCm39)	S206F	probably damaging	Het
Ccdc7b	A	T	8: 129,904,838 (GRCm39)	T159S	possibly damaging	Het
Clpx	A	G	9: 65,231,552 (GRCm39)	T546A	probably damaging	Het
Col18a1	A	G	10: 76,948,870 (GRCm39)	V214A	possibly damaging	Het
Csgalnact1	A	T	8: 68,811,284 (GRCm39)	V462E	probably damaging	Het
Cts6	G	A	13: 61,346,181 (GRCm39)	T202I	probably damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
D630003M21Rik	T	A	2: 158,053,550 (GRCm39)	Q646L	probably damaging	Het
E2f2	A	G	4: 135,914,141 (GRCm39)	Q297R	possibly damaging	Het
Eef1d	T	C	15: 75,768,195 (GRCm39)	E189G	probably damaging	Het
Fam114a2	A	C	11: 57,404,066 (GRCm39)		probably null	Het
Fam24b	A	C	7: 130,928,025 (GRCm39)	Y55D	probably benign	Het
Gimap6	T	C	6: 48,679,125 (GRCm39)	T304A	probably benign	Het
Gm11232	T	C	4: 71,675,572 (GRCm39)	E63G	possibly damaging	Het
Hbs1l	A	G	10: 21,227,922 (GRCm39)	M152V	probably benign	Het
Herc3	C	A	6: 58,864,569 (GRCm39)		probably benign	Het
Hmx2	A	G	7: 131,157,231 (GRCm39)	D115G	probably benign	Het
Igsf3	C	A	3: 101,358,393 (GRCm39)	Y761*	probably null	Het
Kbtbd13	A	G	9: 65,298,901 (GRCm39)	W12R	probably benign	Het
Kif2c	C	A	4: 117,035,385 (GRCm39)	R21L	probably benign	Het
Kmt2c	T	C	5: 25,519,876 (GRCm39)	N2078S	probably benign	Het
Mgst3	T	A	1: 167,201,379 (GRCm39)	Y102F	probably damaging	Het
Mov10	G	T	3: 104,702,727 (GRCm39)	T946N	probably damaging	Het
Nbeal1	T	A	1: 60,344,450 (GRCm39)	I2317N	possibly damaging	Het
Nid2	T	A	14: 19,831,329 (GRCm39)	I741N	probably benign	Het
Or8g20	A	C	9: 39,396,042 (GRCm39)	I166S	probably benign	Het
Or9a7	T	C	6: 40,521,281 (GRCm39)	I211V	probably benign	Het
Pi4ka	G	T	16: 17,191,283 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,812,310 (GRCm39)		probably benign	Het
Psg16	A	G	7: 16,827,748 (GRCm39)	T144A	probably damaging	Het
Sec24b	A	G	3: 129,785,000 (GRCm39)	V1002A	probably benign	Het
Shank1	A	T	7: 43,976,647 (GRCm39)	K582*	probably null	Het
Slc22a7	T	C	17: 46,748,957 (GRCm39)	D120G	possibly damaging	Het
Slco6c1	T	A	1: 96,990,163 (GRCm39)	T676S	probably benign	Het
Sulf2	A	G	2: 165,926,367 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,946,976 (GRCm39)	D344G	probably damaging	Het
Tle4	C	T	19: 14,430,970 (GRCm39)	W604*	probably null	Het
Tmco3	T	C	8: 13,342,052 (GRCm39)	S109P	probably damaging	Het
Unc13d	T	G	11: 115,959,538 (GRCm39)	D647A	probably benign	Het
Usp19	T	C	9: 108,375,721 (GRCm39)	V887A	probably damaging	Het
Vmn2r49	A	T	7: 9,710,550 (GRCm39)	D727E	probably damaging	Het
Ypel1	A	G	16: 16,899,985 (GRCm39)	H72R	probably damaging	Het
Zfp407	A	G	18: 84,227,456 (GRCm39)	V2051A	probably benign	Het
Zfp438	A	G	18: 5,213,515 (GRCm39)	L481P	possibly damaging	Het
Zfp850	C	A	7: 27,688,816 (GRCm39)	R464L	probably benign	Het
Zfp985	T	C	4: 147,667,537 (GRCm39)	V135A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATCTCTACCAGGGGAAGCTCTGAC -3'
(R):5'- TCATCAAGTTGTGAGCCCTCCCAC -3'

Sequencing Primer
(F):5'- tgcacacacatatatcatgtgtag -3'
(R):5'- CATGGTAGTTAGTAGAAACTCACCC -3'

Posted On

2014-04-24