Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Naip6'

243260

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

040283-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2284 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

100281121-100317674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100300600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 472 (A472T)

Ref Sequence

ENSEMBL: ENSMUSP00000112867 (fasta)

Gene Model

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

AlphaFold

Q9JIB6

Predicted Effect

probably benign
Transcript: ENSMUST00000042220
AA Change: A472T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: A472T

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: A472T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: A472T

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

Meta Mutation Damage Score

0.4073

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 23,157,487	Q213*	probably null	Het
Adsl	C	T	15: 80,963,895	P278L	probably damaging	Het
Bcas2	T	C	3: 103,178,362	S187P	probably damaging	Het
Ccdc36	C	T	9: 108,421,473	E49K	probably damaging	Het
Ccdc88a	T	C	11: 29,494,099		probably null	Het
Cryzl1	C	T	16: 91,694,305		probably benign	Het
Csl	T	A	10: 99,758,459	D248V	possibly damaging	Het
Dip2a	A	C	10: 76,313,193	V247G	probably benign	Het
Fat2	T	C	11: 55,282,360	D2509G	probably damaging	Het
Gldn	G	A	9: 54,286,565	W14*	probably null	Het
Gm5698	C	T	1: 30,977,883	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,967,698		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,217,183	D761G	probably benign	Het
Hdac10	T	C	15: 89,127,404	Q159R	probably benign	Het
Hhatl	T	C	9: 121,789,582	Y118C	probably damaging	Het
Klrd1	A	G	6: 129,598,381	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,908,255	Q95*	probably null	Het
Map2	C	T	1: 66,414,068	P548S	probably damaging	Het
Mki67	A	G	7: 135,699,945	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Muc6	T	C	7: 141,637,924	T2279A	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,284	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,195,462	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,510,365	N803K	probably damaging	Het
Olfr1157	A	G	2: 87,962,793	L33P	probably damaging	Het
Ptpre	A	G	7: 135,669,781	H375R	probably benign	Het
Tsc1	G	A	2: 28,665,097	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,844,699	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,447,673	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,485,766	N88K	probably benign	Het
Wt1	A	G	2: 105,172,321	T511A	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
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
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
R8687:Naip6	UTSW	13	100299128	missense	probably benign	0.10
R8806:Naip6	UTSW	13	100300653	missense	possibly damaging	0.93
R9186:Naip6	UTSW	13	100299882	missense	possibly damaging	0.89
R9340:Naip6	UTSW	13	100315986	missense	probably damaging	1.00
R9352:Naip6	UTSW	13	100301385	missense	possibly damaging	0.85
R9585:Naip6	UTSW	13	100300069	missense	probably damaging	0.96
R9597:Naip6	UTSW	13	100300138	missense	probably benign	0.02
R9601:Naip6	UTSW	13	100300453	missense	probably benign
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'- CAGCACCTGGTGTTGTAACTG -3'
(R):5'- AACCAGTTTCTGCCACATGAAC -3'

Sequencing Primer
(F):5'- ATGCTGCTGCTCAGACAC -3'
(R):5'- AACTTGCCAGAAGTGTGCTC -3'

Posted On

2014-10-16