Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Naip6'

510363

Institutional Source

Beutler Lab

Gene Symbol

Naip6

Ensembl Gene

ENSMUSG00000078942

Gene Name

NLR family, apoptosis inhibitory protein 6

Synonyms

Birc1f, Naip-rs4, Naip-rs4A

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6321 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

100281121-100317674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100300401 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 538 (S538I)

Ref Sequence

ENSEMBL: ENSMUSP00000112867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042220] [ENSMUST00000118574]

Predicted Effect

probably benign
Transcript: ENSMUST00000042220
AA Change: S538I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: S538I

Domain	Start	End	E-Value	Type
BIR	58	129	6.21e-20	SMART
BIR	157	229	8.04e-37	SMART
BIR	276	347	5.19e-31	SMART
Pfam:NACHT	464	618	7.6e-37	PFAM
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118574
AA Change: S538I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: S538I

Domain	Start	End	E-Value	Type
BIR	58	129	6.21e-20	SMART
BIR	157	229	8.04e-37	SMART
BIR	276	347	5.19e-31	SMART
Pfam:NACHT	464	618	2.5e-35	PFAM
low complexity region	851	862	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: Closest sequence match is AF381772. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably damaging	Het

Other mutations in Naip6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Naip6	APN	13	100316017	missense	probably benign	0.03
IGL01123:Naip6	APN	13	100304438	missense	probably benign	0.02
IGL01151:Naip6	APN	13	100299093	missense	probably benign	0.00
IGL01382:Naip6	APN	13	100299856	missense	possibly damaging	0.95
IGL01415:Naip6	APN	13	100303290	missense	probably benign	0.17
IGL01654:Naip6	APN	13	100299345	missense	probably benign	0.00
IGL01662:Naip6	APN	13	100300354	missense	probably damaging	1.00
IGL01726:Naip6	APN	13	100303252	missense	probably benign	0.02
IGL01810:Naip6	APN	13	100288095	splice site	probably benign
IGL01867:Naip6	APN	13	100300312	missense	probably benign	0.40
IGL01926:Naip6	APN	13	100300196	missense	probably damaging	1.00
IGL01964:Naip6	APN	13	100298730	splice site	probably benign
IGL02145:Naip6	APN	13	100296978	missense	possibly damaging	0.77
IGL02160:Naip6	APN	13	100299425	missense	probably benign	0.01
IGL02214:Naip6	APN	13	100316059	missense	probably damaging	1.00
IGL02342:Naip6	APN	13	100303240	missense	possibly damaging	0.69
IGL02568:Naip6	APN	13	100316272	missense	probably damaging	1.00
IGL02573:Naip6	APN	13	100299471	nonsense	probably null
IGL02680:Naip6	APN	13	100283748	missense	probably benign
IGL02829:Naip6	APN	13	100300765	missense	probably benign	0.11
IGL02833:Naip6	APN	13	100299613	missense	probably damaging	1.00
IGL02851:Naip6	APN	13	100300660	missense	probably benign	0.01
IGL02860:Naip6	APN	13	100300476	missense	possibly damaging	0.95
IGL02886:Naip6	APN	13	100300476	missense	possibly damaging	0.95
IGL03155:Naip6	APN	13	100316424	missense	possibly damaging	0.62
R0032:Naip6	UTSW	13	100303237	missense	probably benign	0.00
R0310:Naip6	UTSW	13	100308213	missense	possibly damaging	0.72
R0437:Naip6	UTSW	13	100296924	missense	possibly damaging	0.75
R0472:Naip6	UTSW	13	100302260	missense	probably benign	0.02
R0560:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R0638:Naip6	UTSW	13	100300528	missense	probably benign	0.00
R0792:Naip6	UTSW	13	100283766	missense	possibly damaging	0.78
R0963:Naip6	UTSW	13	100316475	missense	probably benign	0.11
R1102:Naip6	UTSW	13	100304415	missense	possibly damaging	0.62
R1278:Naip6	UTSW	13	100300362	missense	probably damaging	1.00
R1462:Naip6	UTSW	13	100300240	missense	possibly damaging	0.64
R1462:Naip6	UTSW	13	100300240	missense	possibly damaging	0.64
R1544:Naip6	UTSW	13	100316475	missense	probably benign
R1595:Naip6	UTSW	13	100299094	missense	probably damaging	0.96
R1749:Naip6	UTSW	13	100308255	missense	probably benign	0.03
R1838:Naip6	UTSW	13	100316136	missense	probably damaging	0.99
R1863:Naip6	UTSW	13	100300559	missense	probably benign	0.03
R1914:Naip6	UTSW	13	100299428	missense	probably benign	0.13
R2001:Naip6	UTSW	13	100300729	missense	probably benign	0.44
R2082:Naip6	UTSW	13	100304344	splice site	probably null
R2143:Naip6	UTSW	13	100299859	missense	probably damaging	1.00
R2174:Naip6	UTSW	13	100298987	missense	probably benign
R2266:Naip6	UTSW	13	100283559	missense	possibly damaging	0.46
R2284:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R2285:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R2286:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R2351:Naip6	UTSW	13	100283661	missense	probably damaging	1.00
R2363:Naip6	UTSW	13	100316420	missense	possibly damaging	0.90
R2445:Naip6	UTSW	13	100300668	missense	probably damaging	0.99
R2971:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R2975:Naip6	UTSW	13	100288187	missense	probably damaging	1.00
R3081:Naip6	UTSW	13	100300453	missense	probably benign
R3082:Naip6	UTSW	13	100316417	missense	probably benign	0.00
R3122:Naip6	UTSW	13	100316523	missense	probably benign	0.00
R3417:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R3943:Naip6	UTSW	13	100294739	missense	probably benign	0.01
R3944:Naip6	UTSW	13	100294739	missense	probably benign	0.01
R4080:Naip6	UTSW	13	100299307	missense	probably damaging	1.00
R4166:Naip6	UTSW	13	100316149	missense	probably benign	0.23
R4396:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R4397:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R4418:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R4512:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R4670:Naip6	UTSW	13	100294731	critical splice donor site	probably null
R4671:Naip6	UTSW	13	100294731	critical splice donor site	probably null
R4722:Naip6	UTSW	13	100307072	missense	possibly damaging	0.72
R4811:Naip6	UTSW	13	100285791	missense	probably damaging	1.00
R4900:Naip6	UTSW	13	100296969	missense	probably damaging	0.99
R5162:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R5316:Naip6	UTSW	13	100283782	missense	probably benign	0.00
R5403:Naip6	UTSW	13	100300077	missense	probably benign	0.12
R5437:Naip6	UTSW	13	100303304	nonsense	probably null
R5507:Naip6	UTSW	13	100298915	missense	probably benign	0.01
R5631:Naip6	UTSW	13	100300138	missense	probably benign	0.02
R5657:Naip6	UTSW	13	100300401	missense	probably benign
R5684:Naip6	UTSW	13	100300380	missense	probably damaging	1.00
R5786:Naip6	UTSW	13	100300216	missense	probably benign
R5787:Naip6	UTSW	13	100300216	missense	probably benign
R5788:Naip6	UTSW	13	100300216	missense	probably benign
R5878:Naip6	UTSW	13	100299673	missense	probably damaging	1.00
R5895:Naip6	UTSW	13	100315992	missense	possibly damaging	0.90
R5898:Naip6	UTSW	13	100299321	missense	possibly damaging	0.93
R6113:Naip6	UTSW	13	100299286	missense	possibly damaging	0.96
R6141:Naip6	UTSW	13	100308233	missense	possibly damaging	0.91
R6199:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R6402:Naip6	UTSW	13	100300718	missense	probably benign	0.30
R6435:Naip6	UTSW	13	100294741	missense	probably benign	0.04
R6477:Naip6	UTSW	13	100316008	missense	probably damaging	1.00
R6601:Naip6	UTSW	13	100283758	missense	probably benign
R6638:Naip6	UTSW	13	100300401	missense	probably benign
R6639:Naip6	UTSW	13	100300401	missense	probably benign
R6804:Naip6	UTSW	13	100299167	missense	probably benign
R6922:Naip6	UTSW	13	100302198	missense	possibly damaging	0.88
R6975:Naip6	UTSW	13	100316265	missense	probably damaging	1.00
R7050:Naip6	UTSW	13	100315499	missense	probably damaging	1.00
R7135:Naip6	UTSW	13	100300419	missense	probably damaging	1.00
R7140:Naip6	UTSW	13	100300200	missense	possibly damaging	0.95
R7182:Naip6	UTSW	13	100316149	missense	probably benign	0.23
R7196:Naip6	UTSW	13	100300158	missense	probably benign	0.10
R7234:Naip6	UTSW	13	100315503	nonsense	probably null
R7259:Naip6	UTSW	13	100304355	missense	probably damaging	1.00
R7322:Naip6	UTSW	13	100299388	missense	possibly damaging	0.94
R7332:Naip6	UTSW	13	100300701	missense	possibly damaging	0.62
R7339:Naip6	UTSW	13	100316019	missense	probably damaging	1.00
R7353:Naip6	UTSW	13	100299751	missense	probably benign	0.00
R7485:Naip6	UTSW	13	100283851	missense	probably benign	0.07
R7597:Naip6	UTSW	13	100300600	missense	probably benign	0.08
R7835:Naip6	UTSW	13	100316004	missense	probably benign	0.19
R7840:Naip6	UTSW	13	100315471	missense	probably damaging	1.00
R8082:Naip6	UTSW	13	100300401	missense	probably benign
R8082:Naip6	UTSW	13	100300453	missense	probably benign
R8103:Naip6	UTSW	13	100301343	missense	probably benign	0.00
R8164:Naip6	UTSW	13	100316289	missense	probably benign	0.00
R8206:Naip6	UTSW	13	100294836	nonsense	probably null
R8258:Naip6	UTSW	13	100316412	missense	probably benign	0.02
R8259:Naip6	UTSW	13	100316412	missense	probably benign	0.02
R8348:Naip6	UTSW	13	100300386	missense	possibly damaging	0.61
R8405:Naip6	UTSW	13	100300276	missense	possibly damaging	0.89
R8406:Naip6	UTSW	13	100300276	missense	possibly damaging	0.89
R8441:Naip6	UTSW	13	100285757	missense	possibly damaging	0.77
R8448:Naip6	UTSW	13	100300386	missense	possibly damaging	0.61
R8465:Naip6	UTSW	13	100296915	missense	possibly damaging	0.95
R8501:Naip6	UTSW	13	100300276	missense	possibly damaging	0.89
R8502:Naip6	UTSW	13	100300276	missense	possibly damaging	0.89
X0066:Naip6	UTSW	13	100315462	nonsense	probably null
Z1177:Naip6	UTSW	13	100299417	missense	probably benign	0.20
Z1177:Naip6	UTSW	13	100300800	missense	probably damaging	1.00
Z1177:Naip6	UTSW	13	100316130	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-04-02