Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03201:Nlrp9c'

412964

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26084533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 349 (S349T)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845
AA Change: S349T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: S349T

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 benign
Transcript: ENSMUST00000085944
AA Change: S349T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: S349T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,468 (GRCm39)	E105G	probably damaging	Het
Apc	A	G	18: 34,445,429 (GRCm39)	D757G	probably damaging	Het
Arpc3	A	T	5: 122,539,781 (GRCm39)	I45F	probably damaging	Het
C3	C	A	17: 57,529,249 (GRCm39)	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,108,213 (GRCm39)	N299D	probably benign	Het
Cdr1	T	A	X: 60,229,154 (GRCm39)	Q4L	unknown	Het
Cep170	G	A	1: 176,564,454 (GRCm39)	S1464F	probably damaging	Het
Cfh	A	G	1: 140,030,557 (GRCm39)	Y826H	probably damaging	Het
Chic2	A	G	5: 75,171,954 (GRCm39)		probably benign	Het
Chrne	T	C	11: 70,509,338 (GRCm39)	H81R	probably benign	Het
Clec4e	A	G	6: 123,260,599 (GRCm39)	I153T	probably benign	Het
Col14a1	A	T	15: 55,272,300 (GRCm39)	D699V	unknown	Het
Cul3	T	G	1: 80,259,144 (GRCm39)	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,189 (GRCm39)	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,022,906 (GRCm39)	K1077R	probably benign	Het
Dnajc18	A	G	18: 35,813,972 (GRCm39)	S266P	probably benign	Het
Dydc1	T	G	14: 40,800,647 (GRCm39)	L74R	probably damaging	Het
Echdc2	G	T	4: 108,027,067 (GRCm39)	A71S	possibly damaging	Het
Fer1l4	T	A	2: 155,886,650 (GRCm39)	D693V	probably benign	Het
Fscn3	T	C	6: 28,430,604 (GRCm39)	V258A	probably benign	Het
Herc2	T	A	7: 55,869,516 (GRCm39)	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,382,200 (GRCm39)	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,097,467 (GRCm39)	T809K	probably damaging	Het
Lama2	A	T	10: 27,220,566 (GRCm39)	L433*	probably null	Het
Parp11	T	C	6: 127,466,981 (GRCm39)	I124T	possibly damaging	Het
Parp8	A	T	13: 116,999,605 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,827,236 (GRCm39)	F379L	probably damaging	Het
Phf21b	T	C	15: 84,671,448 (GRCm39)	H482R	probably benign	Het
Phka1	A	C	X: 101,584,716 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,100,430 (GRCm39)	W133R	probably damaging	Het
Polr2a	A	C	11: 69,636,516 (GRCm39)	L405*	probably null	Het
Prrg3	T	A	X: 71,010,108 (GRCm39)	V3E	probably damaging	Het
Pth1r	T	C	9: 110,551,648 (GRCm39)	K484E	probably damaging	Het
Rcbtb1	T	C	14: 59,460,727 (GRCm39)	L230P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,672,720 (GRCm39)	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,665,692 (GRCm39)	V157A	probably damaging	Het
Tbx15	G	A	3: 99,259,296 (GRCm39)	S389N	probably benign	Het
Ttn	T	G	2: 76,671,424 (GRCm39)		probably benign	Het
Ube2n	T	C	10: 95,378,127 (GRCm39)		probably benign	Het
Wdr95	G	A	5: 149,505,352 (GRCm39)		probably null	Het
Wsb2	T	C	5: 117,514,620 (GRCm39)	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 10,974,166 (GRCm39)		probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp747	G	A	7: 126,973,180 (GRCm39)	T330I	probably damaging	Het
Zfp949	A	G	9: 88,450,717 (GRCm39)	R96G	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
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
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

Posted On

2016-08-02