Mutagenetix > Incidental Mutation

Incidental Mutation 'R5526:Nlrp9c'

431851

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

043084-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26081791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 645 (N645I)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	5.2e-31	PFAM
LRR	637	664	4.36e1	SMART
Blast:LRR	666	691	3e-6	BLAST
LRR	693	720	1.02e0	SMART
LRR	722	749	3e0	SMART
LRR	750	777	6.88e-4	SMART
LRR	779	806	5.06e0	SMART
LRR	807	834	1.22e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085944
AA Change: N645I

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: N645I

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	2.8e-31	PFAM
LRR	631	658	7.49e0	SMART
LRR	692	719	4.36e1	SMART
Blast:LRR	721	746	8e-6	BLAST
LRR	748	775	1.02e0	SMART
LRR	777	804	3e0	SMART
LRR	805	832	6.88e-4	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.12e-4	SMART
LRR	919	946	1.22e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160948

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,331,605 (GRCm39)	M1315K	probably benign	Het
Abcc4	C	T	14: 118,868,449 (GRCm39)	V168I	probably benign	Het
Add3	T	A	19: 53,215,038 (GRCm39)	L71Q	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Angpt1	A	G	15: 42,375,737 (GRCm39)	L173P	probably damaging	Het
Crls1	T	A	2: 132,703,165 (GRCm39)	M205K	possibly damaging	Het
Cspg4b	T	C	13: 113,504,427 (GRCm39)	V1852A	probably benign	Het
Dhtkd1	A	T	2: 5,916,662 (GRCm39)	N671K	probably damaging	Het
Dmbt1	A	T	7: 130,642,920 (GRCm39)	D246V	probably damaging	Het
Dolk	G	A	2: 30,175,820 (GRCm39)	A75V	probably damaging	Het
Dtna	T	A	18: 23,779,287 (GRCm39)	V623E	probably damaging	Het
Elavl3	T	C	9: 21,947,622 (GRCm39)	T106A	probably benign	Het
Ergic1	T	C	17: 26,843,652 (GRCm39)	C41R	probably damaging	Het
Fat2	T	A	11: 55,160,187 (GRCm39)	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,207,559 (GRCm39)	R978L	possibly damaging	Het
Fzd6	A	T	15: 38,894,559 (GRCm39)	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,926,004 (GRCm39)	H87L	probably benign	Het
Gatad2a	T	C	8: 70,388,591 (GRCm39)	E32G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm11541	G	T	11: 94,594,944 (GRCm39)	H41Q	unknown	Het
Has3	A	G	8: 107,600,579 (GRCm39)	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,279,869 (GRCm39)	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,891,069 (GRCm39)	N428S	probably benign	Het
Lipo5	A	T	19: 33,445,284 (GRCm39)	V95D	unknown	Het
Lrp1	A	T	10: 127,391,593 (GRCm39)	V2942D	probably benign	Het
Map1a	T	C	2: 121,136,143 (GRCm39)	S2082P	probably damaging	Het
Mast4	T	C	13: 102,890,723 (GRCm39)	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,316,147 (GRCm39)	L13*	probably null	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Or12d17	T	A	17: 37,778,003 (GRCm39)	L302Q	unknown	Het
Or12e7	T	C	2: 87,288,109 (GRCm39)	I200T	probably benign	Het
Or14j7	T	A	17: 38,235,383 (GRCm39)	*309K	probably null	Het
Or7e166	C	A	9: 19,624,994 (GRCm39)	Y290*	probably null	Het
Or8g52	A	T	9: 39,630,892 (GRCm39)	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,187,090 (GRCm39)	V286A	possibly damaging	Het
Phax	C	T	18: 56,717,382 (GRCm39)	T275I	probably damaging	Het
Phf21b	A	G	15: 84,676,006 (GRCm39)	V335A	probably benign	Het
Psg18	A	T	7: 18,083,273 (GRCm39)	L173H	probably damaging	Het
Rab3ip	T	C	10: 116,754,834 (GRCm39)	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,274,705 (GRCm39)	V202A	probably damaging	Het
Rpn2	T	C	2: 157,165,187 (GRCm39)	L611P	probably damaging	Het
Runx2	T	G	17: 45,035,749 (GRCm39)	T148P	probably damaging	Het
Sbpl	C	A	17: 24,173,623 (GRCm39)	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,350,237 (GRCm39)	P879L	probably damaging	Het
Sfn	T	C	4: 133,328,915 (GRCm39)	R56G	probably damaging	Het
Spata31g1	T	C	4: 42,972,125 (GRCm39)	V486A	possibly damaging	Het
Tas2r138	C	T	6: 40,589,914 (GRCm39)	A111T	probably benign	Het
Tasp1	A	T	2: 139,850,709 (GRCm39)	S105T	probably damaging	Het
Tmem225	T	G	9: 40,062,002 (GRCm39)	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,481,267 (GRCm39)	S640P	probably damaging	Het
Utp4	G	A	8: 107,644,265 (GRCm39)	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,273 (GRCm39)	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,522,069 (GRCm39)	L9P	probably benign	Het
Zcchc2	T	A	1: 105,957,984 (GRCm39)	C420*	probably null	Het
Zfp804a	A	G	2: 82,088,934 (GRCm39)	D921G	probably benign	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26,084,013 (GRCm39)	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26,084,175 (GRCm39)	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26,093,481 (GRCm39)	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26,084,850 (GRCm39)	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26,074,847 (GRCm39)	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26,084,576 (GRCm39)	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26,093,632 (GRCm39)	missense	probably benign
IGL02535:Nlrp9c	APN	7	26,071,522 (GRCm39)	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26,084,982 (GRCm39)	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26,074,715 (GRCm39)	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26,084,701 (GRCm39)	missense	probably benign	0.00
IGL03006:Nlrp9c	APN	7	26,071,507 (GRCm39)	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26,079,914 (GRCm39)	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26,084,533 (GRCm39)	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26,064,457 (GRCm39)	missense	probably damaging	0.99
holy_grail	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
IGL03054:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
K7894:Nlrp9c	UTSW	7	26,084,323 (GRCm39)	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26,093,561 (GRCm39)	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26,070,901 (GRCm39)	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26,085,244 (GRCm39)	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26,070,702 (GRCm39)	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26,079,860 (GRCm39)	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26,077,526 (GRCm39)	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26,081,723 (GRCm39)	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26,093,543 (GRCm39)	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26,079,915 (GRCm39)	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26,084,319 (GRCm39)	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26,077,481 (GRCm39)	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26,084,221 (GRCm39)	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26,077,512 (GRCm39)	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26,074,747 (GRCm39)	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26,084,707 (GRCm39)	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26,070,876 (GRCm39)	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
R4179:Nlrp9c	UTSW	7	26,084,086 (GRCm39)	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26,077,523 (GRCm39)	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26,074,793 (GRCm39)	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26,084,265 (GRCm39)	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26,077,602 (GRCm39)	splice site	probably null
R4824:Nlrp9c	UTSW	7	26,079,989 (GRCm39)	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26,083,885 (GRCm39)	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26,085,172 (GRCm39)	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26,064,425 (GRCm39)	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26,083,926 (GRCm39)	missense	probably damaging	1.00
R6020:Nlrp9c	UTSW	7	26,084,150 (GRCm39)	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26,077,426 (GRCm39)	splice site	probably null
R6454:Nlrp9c	UTSW	7	26,085,199 (GRCm39)	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26,081,812 (GRCm39)	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26,084,850 (GRCm39)	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26,077,556 (GRCm39)	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26,084,722 (GRCm39)	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26,070,822 (GRCm39)	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26,064,440 (GRCm39)	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26,070,860 (GRCm39)	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26,064,364 (GRCm39)	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26,084,914 (GRCm39)	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26,070,864 (GRCm39)	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26,085,112 (GRCm39)	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26,074,778 (GRCm39)	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26,071,428 (GRCm39)	missense	probably benign	0.12
R9012:Nlrp9c	UTSW	7	26,074,733 (GRCm39)	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9106:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9129:Nlrp9c	UTSW	7	26,077,428 (GRCm39)	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26,085,302 (GRCm39)	missense	possibly damaging	0.91
RF020:Nlrp9c	UTSW	7	26,084,649 (GRCm39)	missense	probably benign
X0065:Nlrp9c	UTSW	7	26,079,855 (GRCm39)	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26,084,250 (GRCm39)	missense	possibly damaging	0.54
Z1177:Nlrp9c	UTSW	7	26,084,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26,081,773 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TACAACATAGTCAATACCTGCCTAG -3'
(R):5'- AGGGTAACTGCCAGTTTTGAG -3'

Sequencing Primer
(F):5'- TGCCTAGTTTTATTTTAGTGCACAC -3'
(R):5'- AACTGCCAGTTTTGAGAAAGGGTTG -3'

Posted On

2016-10-05