Mutagenetix > Incidental Mutations

Incidental Mutation 'R7353:Naip6'

570762

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: 0.109) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100281121-100317674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100299751 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 755 (V755M)

Ref Sequence

ENSEMBL: ENSMUSP00000041766 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042220
AA Change: V755M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: V755M

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: V755M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: V755M

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	probably benign	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
R6321:Naip6	UTSW	13	100300401	missense	probably benign
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
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
R7918:Naip6	UTSW	13	100316004	missense	probably benign	0.19
R7923:Naip6	UTSW	13	100315471	missense	probably damaging	1.00
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

PCR Primer
(F):5'- GGATGGAGCTTCATGTAATCCTC -3'
(R):5'- ACAGGGCTTTTCTCATCGTG -3'

Sequencing Primer
(F):5'- TCAGACATGTTCTCCAGTGAC -3'
(R):5'- GCTTTGAGTTCAATAGTGATGACC -3'

Posted On

2019-09-13