Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Nod1'

190427

Institutional Source

Beutler Lab

Gene Symbol

Nod1

Ensembl Gene

ENSMUSG00000038058

Gene Name

nucleotide-binding oligomerization domain containing 1

Synonyms

Card4, F830007N14Rik, Nlrc1

MMRRC Submission

039743-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54923949-54972612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54944059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 425 (V425F)

Ref Sequence

ENSEMBL: ENSMUSP00000130487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060655] [ENSMUST00000168172] [ENSMUST00000203076]

AlphaFold

Q8BHB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000060655
AA Change: V425F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: V425F

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:CARD	20	105	4.7e-21	PFAM
low complexity region	174	185	N/A	INTRINSIC
Pfam:NACHT	196	368	1.3e-41	PFAM
low complexity region	515	529	N/A	INTRINSIC
low complexity region	555	565	N/A	INTRINSIC
low complexity region	708	717	N/A	INTRINSIC
LRR	727	754	1.25e0	SMART
LRR	755	782	1.22e1	SMART
LRR	783	810	1.96e2	SMART
LRR	811	838	1.08e-1	SMART
LRR	839	866	3.95e-4	SMART
LRR	867	894	1.51e0	SMART
LRR	895	922	7.15e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168172
AA Change: V425F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: V425F

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:CARD	20	105	7.6e-20	PFAM
low complexity region	174	185	N/A	INTRINSIC
Pfam:NACHT	196	368	6.2e-41	PFAM
low complexity region	515	529	N/A	INTRINSIC
low complexity region	555	565	N/A	INTRINSIC
low complexity region	708	717	N/A	INTRINSIC
LRR	727	754	1.25e0	SMART
LRR	755	782	1.22e1	SMART
LRR	783	810	1.96e2	SMART
LRR	811	838	1.08e-1	SMART
LRR	839	866	3.95e-4	SMART
LRR	867	894	1.51e0	SMART
LRR	895	922	7.15e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203076

SMART Domains

Protein: ENSMUSP00000145123
Gene: ENSMUSG00000038058

Domain	Start	End	E-Value	Type
low complexity region	82	91	N/A	INTRINSIC
LRR	101	128	5.3e-3	SMART
LRR	157	184	4.8e-4	SMART
LRR	185	212	1.7e-6	SMART
LRR	213	240	6.4e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205242

Meta Mutation Damage Score

0.2917

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice were viable, fertile, and appeared normal in a specific-pathogen free environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063	S249R	possibly damaging	Het
9130409I23Rik	A	G	1: 181,051,319	M1V	probably null	Het
Acadvl	T	A	11: 70,010,355	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600		probably benign	Het
Ank2	C	A	3: 126,933,060	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098	Q149*	probably null	Het
Asap2	C	T	12: 21,224,392	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,758,390	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664		probably benign	Het
Card11	T	A	5: 140,902,905	K233*	probably null	Het
Catip	T	G	1: 74,362,770	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945	S194P	possibly damaging	Het
Dhx58	T	A	11: 100,703,574	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443		probably null	Het
Entpd1	A	T	19: 40,726,236	Q263L	probably benign	Het
Esyt3	T	C	9: 99,336,191	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262	F264S	probably benign	Het
Fam189a2	A	T	19: 23,979,695	I317N	probably damaging	Het
Fam196b	T	A	11: 34,404,263		probably null	Het
Fam45a	A	G	19: 60,817,583	Y102C	probably damaging	Het
Fat1	T	C	8: 45,010,482	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240	V301G	probably benign	Het
H2bfm	A	C	X: 136,927,467	D35A	unknown	Het
Hfm1	A	G	5: 106,880,514	F817L	probably damaging	Het
Hfm1	T	C	5: 106,896,003	E589G	probably damaging	Het
Hivep2	A	T	10: 14,129,505	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631	A339E	probably damaging	Het
Irx4	T	C	13: 73,267,638	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791	I705V	probably benign	Het
Mbd5	A	G	2: 49,257,032	N418S	probably benign	Het
Mmp21	C	T	7: 133,677,285	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725	E111G	possibly damaging	Het
Nos1	A	T	5: 117,895,919	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316	H98Y	probably damaging	Het
Olfr1013	C	T	2: 85,769,855	T18I	probably benign	Het
Olfr172	A	G	16: 58,761,141	F12L	probably benign	Het
Olfr292	G	A	7: 86,695,110	R218H	probably benign	Het
Olfr726	C	G	14: 50,084,370	V104L	probably benign	Het
Olfr933	A	G	9: 38,975,906	I77V	probably damaging	Het
Olfr945	T	C	9: 39,258,571	I37V	probably benign	Het
Optn	G	A	2: 5,053,130	T76I	possibly damaging	Het
Oscar	C	T	7: 3,611,856	W22*	probably null	Het
Palmd	T	A	3: 116,923,657	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212		probably benign	Het
Reps1	A	T	10: 18,118,950	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,096	M70K	probably damaging	Het
Rsf1	A	T	7: 97,662,349	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392	V67I	probably benign	Het
Skp1a	T	A	11: 52,242,615	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,403,408	D367E	probably damaging	Het
Txlnb	A	G	10: 17,843,455	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934		probably null	Het
Vmn2r124	A	T	17: 18,061,925		probably benign	Het
Vmn2r2	T	C	3: 64,117,399	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031		probably null	Het
Zfhx2	C	A	14: 55,065,998	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683	I867T	probably benign	Het

Other mutations in Nod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Nod1	APN	6	54944946	missense	probably damaging	1.00
IGL00937:Nod1	APN	6	54937364	missense	probably benign	0.08
IGL00945:Nod1	APN	6	54944586	splice site	probably null
IGL01410:Nod1	APN	6	54944356	missense	probably damaging	1.00
IGL02094:Nod1	APN	6	54939390	splice site	probably null
IGL02217:Nod1	APN	6	54943419	missense	possibly damaging	0.63
IGL02573:Nod1	APN	6	54943945	missense	probably benign	0.02
IGL02944:Nod1	APN	6	54924947	missense	possibly damaging	0.68
R0092:Nod1	UTSW	6	54944541	missense	probably damaging	1.00
R0108:Nod1	UTSW	6	54943749	missense	probably benign	0.27
R0148:Nod1	UTSW	6	54938217	missense	probably damaging	1.00
R0771:Nod1	UTSW	6	54944269	missense	probably damaging	0.96
R1493:Nod1	UTSW	6	54944056	missense	probably damaging	1.00
R1540:Nod1	UTSW	6	54943975	missense	probably benign	0.09
R1660:Nod1	UTSW	6	54944233	splice site	probably null
R1911:Nod1	UTSW	6	54944440	missense	probably damaging	0.96
R2008:Nod1	UTSW	6	54939325	missense	probably damaging	1.00
R3409:Nod1	UTSW	6	54944917	missense	probably benign	0.01
R3410:Nod1	UTSW	6	54944917	missense	probably benign	0.01
R3927:Nod1	UTSW	6	54944917	missense	probably benign	0.01
R4499:Nod1	UTSW	6	54943996	missense	probably damaging	1.00
R4608:Nod1	UTSW	6	54943756	missense	probably damaging	1.00
R5552:Nod1	UTSW	6	54944631	missense	probably damaging	1.00
R5667:Nod1	UTSW	6	54933576	missense	probably benign	0.06
R5859:Nod1	UTSW	6	54930177	missense	probably benign	0.08
R5868:Nod1	UTSW	6	54939327	missense	probably damaging	1.00
R5995:Nod1	UTSW	6	54944554	missense	probably damaging	0.99
R6329:Nod1	UTSW	6	54944704	missense	probably benign	0.00
R6331:Nod1	UTSW	6	54924983	missense	probably damaging	1.00
R6642:Nod1	UTSW	6	54948029	missense	probably damaging	1.00
R6798:Nod1	UTSW	6	54944611	missense	probably damaging	0.97
R6889:Nod1	UTSW	6	54944109	missense	probably benign	0.27
R7582:Nod1	UTSW	6	54944307	missense	probably damaging	1.00
R8123:Nod1	UTSW	6	54937406	missense	probably damaging	1.00
R8317:Nod1	UTSW	6	54943440	missense	probably damaging	1.00
R8338:Nod1	UTSW	6	54943971	missense	probably damaging	0.97
R8524:Nod1	UTSW	6	54948075	missense	probably damaging	1.00
R8896:Nod1	UTSW	6	54944292	missense	probably benign	0.03
R8961:Nod1	UTSW	6	54949476	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAAACACAAAGAGGCTCTTGTC -3'
(R):5'- GCAAATTGCTCACTGCTCGCAC -3'

Sequencing Primer
(F):5'- AAAGAGGCTCTTGTCGGTGC -3'
(R):5'- CGCAAAAAGGTGCTGCTC -3'

Posted On

2014-05-14