Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Nlrp9c'

166358

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

039568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26382298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 668 (K668E)

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

probably damaging
Transcript: ENSMUST00000085944
AA Change: K668E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: K668E

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,696	Q262L	possibly damaging	Het
4921501E09Rik	A	G	17: 33,067,241	S196P	probably damaging	Het
4932438A13Rik	C	T	3: 37,052,535	H5005Y	unknown	Het
Abcg4	T	C	9: 44,274,723	Y617C	probably damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ano1	T	G	7: 144,595,566	S853R	probably damaging	Het
Ap4e1	T	A	2: 127,011,823	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,389,693	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,802,108	D982V	probably damaging	Het
Atxn2	T	C	5: 121,813,530	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,870,794	C136R	possibly damaging	Het
Cacna1i	A	G	15: 80,391,774		probably null	Het
Ccdc122	T	A	14: 77,067,939	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,521,041	D90G	probably damaging	Het
Cep104	T	G	4: 153,994,508	V323G	probably benign	Het
Chmp6	A	G	11: 119,916,715	D128G	probably benign	Het
Clec18a	A	T	8: 111,078,866	M201K	probably benign	Het
Col11a1	A	T	3: 114,216,995		probably benign	Het
Col6a4	A	T	9: 106,075,220	M493K	probably damaging	Het
Crygd	A	C	1: 65,063,057		probably null	Het
Dennd1c	T	C	17: 57,066,935	T543A	probably benign	Het
Erbb4	A	T	1: 68,078,582	C891*	probably null	Het
Ercc5	A	T	1: 44,178,241	K915*	probably null	Het
Ercc6	A	T	14: 32,519,022	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,136,752	P6T	unknown	Het
Exoc1	A	G	5: 76,549,564	K396R	possibly damaging	Het
Fat3	T	A	9: 15,925,091	Y4039F	probably benign	Het
Fgf7	T	A	2: 126,035,818	M35K	probably damaging	Het
Fras1	G	A	5: 96,636,819	G887D	probably damaging	Het
Fuk	A	T	8: 110,883,241	L1047Q	probably damaging	Het
Gbp4	A	T	5: 105,121,792		probably null	Het
Homez	A	T	14: 54,857,705	M182K	probably benign	Het
Hrnr	G	A	3: 93,322,794	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,611,672	S83A	probably benign	Het
Ildr2	A	G	1: 166,270,495		probably null	Het
Klhdc1	A	T	12: 69,263,198	R291S	probably benign	Het
Krt77	T	A	15: 101,861,088	I413F	probably damaging	Het
Lipn	A	G	19: 34,068,670	I14M	probably damaging	Het
Macf1	T	G	4: 123,476,014	R86S	probably benign	Het
Mroh8	C	A	2: 157,230,055	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,232,597	D1255E	possibly damaging	Het
Nckap5	C	T	1: 126,024,922	V1234I	possibly damaging	Het
Nod2	T	C	8: 88,664,589	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,614,237	M97V	possibly damaging	Het
Nsd3	G	A	8: 25,698,767	V43M	probably damaging	Het
Nubp2	A	G	17: 24,884,414	V163A	probably damaging	Het
Oas1e	A	T	5: 120,787,989	F338Y	probably damaging	Het
Oat	C	A	7: 132,564,269	G196C	probably damaging	Het
Olfr1241	C	T	2: 89,482,553	G194D	probably damaging	Het
Olfr57	T	C	10: 79,035,564	L256P	probably damaging	Het
Olfr675	A	T	7: 105,024,764	L72Q	probably damaging	Het
P2ry13	T	C	3: 59,210,289	T23A	probably benign	Het
Pja2	C	A	17: 64,309,222	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,526,724	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,479,995	S332P	probably damaging	Het
Polr3e	T	A	7: 120,940,597	N522K	probably damaging	Het
Prdm10	A	G	9: 31,357,286	T844A	probably damaging	Het
Ripk1	C	T	13: 34,028,147	P480L	probably benign	Het
Rnf139	T	C	15: 58,899,215	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,655	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,236,098	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,112,224	L23S	probably benign	Het
Setd5	T	A	6: 113,121,738	F758L	probably damaging	Het
Smlr1	C	A	10: 25,536,078	V4L	possibly damaging	Het
Snx1	T	C	9: 66,109,543	D34G	probably damaging	Het
Spaca5	A	T	X: 21,076,653	T92S	probably benign	Het
Speer4f2	A	G	5: 17,376,542	T161A		Het
Swi5	C	A	2: 32,280,704		probably null	Het
Syne2	T	A	12: 75,966,100	D2689E	probably benign	Het
Tcof1	T	A	18: 60,814,999	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,724,210	T49I	probably damaging	Het
Tmx3	T	A	18: 90,537,086	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,357,299	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,560,028	H248Q	probably benign	Het
Ttn	T	C	2: 76,737,068	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 140,033,783		probably benign	Het
Vwf	A	C	6: 125,608,291	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,565,908	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,692,294	D219G	probably benign	Het
Zc3h6	C	T	2: 129,017,069	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,948,189		probably null	Het
Zfp369	T	A	13: 65,292,165	I221N	probably damaging	Het
Zfp655	A	T	5: 145,244,601	N423I	probably damaging	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26384588	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26384750	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26394056	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26385425	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26375422	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26385151	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26394207	missense	probably benign
IGL02535:Nlrp9c	APN	7	26372097	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26385557	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26375290	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26385276	missense	probably benign	0.00
IGL03006:Nlrp9c	APN	7	26372082	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26380489	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26385108	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26365032	missense	probably damaging	0.99
holy_grail	UTSW	7	26382412	missense	probably benign
IGL03054:Nlrp9c	UTSW	7	26382276	splice site	probably null
K7894:Nlrp9c	UTSW	7	26384898	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26394136	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26371476	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26385819	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26371277	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26380435	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26378101	missense	possibly damaging	0.88
R1616:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26394118	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26380490	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26384894	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26378056	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26384796	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26378087	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26375322	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26385282	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26371451	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26382276	splice site	probably null
R4179:Nlrp9c	UTSW	7	26384661	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26378098	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26375368	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26384840	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26378177	splice site	probably null
R4824:Nlrp9c	UTSW	7	26380564	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26384460	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26385747	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26365000	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26384501	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26382366	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26384725	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26378001	splice site	probably null
R6454:Nlrp9c	UTSW	7	26385774	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26382387	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26385425	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26378131	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26385297	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26371397	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26365015	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26371435	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26364939	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26385489	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26371439	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26385687	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26375353	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26372003	missense	probably benign	0.12
R9012:Nlrp9c	UTSW	7	26375308	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9106:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9129:Nlrp9c	UTSW	7	26378003	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26385877	missense	possibly damaging	0.91
RF020:Nlrp9c	UTSW	7	26385224	missense	probably benign
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26382348	missense	probably benign	0.28
Z1177:Nlrp9c	UTSW	7	26384775	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26384825	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GTCCCTACAACATAGTCAATACCTGCCT -3'
(R):5'- GGTAACTGCCAGTTTTGAGAAAGGGTT -3'

Sequencing Primer
(F):5'- Gcacacacacacacacacac -3'
(R):5'- TCTTGAATTGAATTTACCCACTAGAG -3'

Posted On

2014-04-13