Mutagenetix > Incidental Mutation

Incidental Mutation 'R6653:Nlrp9c'

526506

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

044774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26070747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 945 (N945Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041845
AA Change: N833Y

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: N833Y

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

probably damaging
Transcript: ENSMUST00000085944
AA Change: N945Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: N945Y

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,945,229 (GRCm39)	L435R	probably benign	Het
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Ankrd50	T	A	3: 38,511,510 (GRCm39)	I286F	probably damaging	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
B4galnt2	T	A	11: 95,782,747 (GRCm39)	M22L	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh4	C	T	2: 179,422,221 (GRCm39)	A115V	probably benign	Het
Cfap53	A	G	18: 74,433,280 (GRCm39)	T122A	probably damaging	Het
Chsy1	A	G	7: 65,759,941 (GRCm39)	K95E	probably benign	Het
Csde1	C	A	3: 102,960,184 (GRCm39)	P604T	probably damaging	Het
Cts7	A	T	13: 61,502,817 (GRCm39)	L237Q	probably damaging	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eif2b4	C	T	5: 31,349,551 (GRCm39)	E53K	possibly damaging	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fcamr	A	G	1: 130,740,939 (GRCm39)	T453A	possibly damaging	Het
Glb1l3	T	C	9: 26,770,884 (GRCm39)	T61A	probably benign	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hephl1	C	T	9: 14,993,260 (GRCm39)	V525I	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kbtbd4	T	A	2: 90,740,113 (GRCm39)	Y499*	probably null	Het
Kif1a	A	T	1: 93,005,420 (GRCm39)	I118N	probably damaging	Het
Klhdc7b	A	G	15: 89,271,292 (GRCm39)	S725G	probably benign	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Myo7a	T	A	7: 97,703,710 (GRCm39)	Y1977F	probably damaging	Het
Naip2	T	G	13: 100,298,352 (GRCm39)	K561N	probably benign	Het
Naip2	C	T	13: 100,288,644 (GRCm39)	V1194I	probably benign	Het
Nkx2-4	G	T	2: 146,925,860 (GRCm39)	A334E	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Pcdha7	A	G	18: 37,107,539 (GRCm39)	Q188R	probably benign	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phip	C	A	9: 82,782,794 (GRCm39)	E884*	probably null	Het
Plxnc1	C	A	10: 94,779,738 (GRCm39)	V235L	probably damaging	Het
Qser1	A	G	2: 104,610,605 (GRCm39)	V1226A	possibly damaging	Het
Ros1	G	T	10: 52,018,299 (GRCm39)	S786R	probably damaging	Het
Rps6ka5	A	G	12: 100,517,795 (GRCm39)	S769P	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Specc1	T	G	11: 62,037,244 (GRCm39)	S813A	probably damaging	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Tmem44	T	C	16: 30,356,369 (GRCm39)	D110G	probably damaging	Het
Ubn2	A	G	6: 38,411,397 (GRCm39)	E97G	possibly damaging	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Usp25	T	A	16: 76,856,176 (GRCm39)	N256K	probably benign	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Wnt2b	C	A	3: 104,860,502 (GRCm39)	R135L	probably damaging	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	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
R5526:Nlrp9c	UTSW	7	26,081,791 (GRCm39)	missense	possibly damaging	0.95
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
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'- TACCATAGGATGATTACCCATGAGTG -3'
(R):5'- TGATTAGATGCCTAGAACTGGC -3'

Sequencing Primer
(F):5'- CCCATGAGTGCATAGGTATCAATCTG -3'
(R):5'- TTAGATGCCTAGAACTGGCACTGAAC -3'

Posted On

2018-07-23