Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Naip6'

205537

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

039865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100281121-100317674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100316136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

Ref Sequence

ENSEMBL: ENSMUSP00000112867 (fasta)

Gene Model

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

AlphaFold

Q9JIB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042220
AA Change: D139G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: D139G

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 damaging
Transcript: ENSMUST00000118574
AA Change: D139G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: D139G

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,626,727	D22G	unknown	Het
Abca4	G	A	3: 122,128,305	R1170K	probably benign	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,493,373	R267L	probably damaging	Het
Adgrb2	A	T	4: 130,010,231	T717S	probably benign	Het
Adgrb3	A	G	1: 25,084,270	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,414,172	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Btnl6	T	A	17: 34,515,542	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,067,638	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,794,891		probably null	Het
Cdhr5	C	T	7: 141,272,603	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,845,542	D26G	probably damaging	Het
Ctr9	G	T	7: 111,052,303	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 27,158,416	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,911,632		probably null	Het
Dennd3	T	C	15: 73,565,100	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,825,178	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,116,177	V295A	probably benign	Het
Dnah7b	C	A	1: 46,277,105	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,717,691	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,853,678	I447L	probably benign	Het
Glt1d1	G	A	5: 127,678,129	V202I	probably benign	Het
Grk1	T	C	8: 13,416,155	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Gzma	T	A	13: 113,095,984	I131F	probably damaging	Het
Helq	A	T	5: 100,771,879	L35*	probably null	Het
Hnrnpll	T	C	17: 80,038,623	N403S	probably damaging	Het
Hsf5	A	G	11: 87,636,055	K518E	probably benign	Het
Ighe	T	A	12: 113,271,850	H258L	unknown	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Ints13	C	T	6: 146,566,611	A129T	possibly damaging	Het
Ipo7	T	A	7: 110,042,109	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,104,512	E136D	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,785,396		probably benign	Het
Lamc3	T	C	2: 31,925,582	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,572,170	N114K	probably benign	Het
Lrfn1	A	T	7: 28,459,768	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,132,388	V240A	probably benign	Het
Lypd1	A	T	1: 125,873,371		probably benign	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Man2c1	A	G	9: 57,137,337	N354S	probably benign	Het
Map3k13	T	C	16: 21,914,189	Y514H	possibly damaging	Het
Med15	T	C	16: 17,653,562	D577G	probably benign	Het
Mroh4	A	T	15: 74,616,113	M320K	probably benign	Het
Ms4a10	T	A	19: 10,964,047	D186V	possibly damaging	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,273,553	R741S	probably damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Olfr1252	A	T	2: 89,721,709	M134K	probably damaging	Het
Olfr1370	A	T	13: 21,072,425	L292*	probably null	Het
Olfr229	A	T	9: 39,909,841	I13F	possibly damaging	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Pcdhb3	A	G	18: 37,301,317	D112G	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Pgm3	C	T	9: 86,569,233	V123I	probably benign	Het
Pms1	A	C	1: 53,192,098		probably null	Het
Prl2b1	A	G	13: 27,388,566	S14P	possibly damaging	Het
Prune2	T	A	19: 17,199,878	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,213,021	E422G	probably benign	Het
Ralyl	A	G	3: 14,143,412	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,651,680		probably benign	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,231,198	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,058,436	H63L	probably benign	Het
Smpd4	G	A	16: 17,642,302		probably null	Het
Sp3	A	G	2: 72,938,176	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,715,857	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,717,465	R809K	probably benign	Het
Tmco5	A	T	2: 116,880,879	E90V	probably damaging	Het
Tnxb	A	T	17: 34,678,910	D844V	probably damaging	Het
Tpi1	T	C	6: 124,814,152	T41A	probably benign	Het
Ttn	T	C	2: 76,727,192	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,024,771	T5I	probably benign	Het
Wdr95	A	G	5: 149,599,366	D663G	probably benign	Het
Zbtb39	T	C	10: 127,742,700	F381S	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp646	T	A	7: 127,879,739	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,042,047	C139G	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly 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
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
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'- ACTTTCAATACCTCAGAAATGCCTC -3'
(R):5'- TGACACGTTCAGATCATGGAC -3'

Sequencing Primer
(F):5'- TCAGAAATGCCTCACAAAATGG -3'
(R):5'- GTTCAGATCATGGACGCCACAG -3'

Posted On

2014-06-23