Mutagenetix > Incidental Mutation

Incidental Mutation 'R4806:Naip1'

370698

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

MMRRC Submission

042425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100562129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1012 (A1012V)

Ref Sequence

ENSEMBL: ENSMUSP00000152583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022142] [ENSMUST00000221727] [ENSMUST00000221943] [ENSMUST00000222155]

AlphaFold

Q9QWK5

Predicted Effect

probably benign
Transcript: ENSMUST00000022142
AA Change: A1012V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: A1012V

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
BIR	58	129	1.18e-20	SMART
BIR	157	229	1.06e-36	SMART
BIR	276	347	7.82e-26	SMART
AAA	462	603	1.14e-2	SMART
low complexity region	908	919	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221727

Predicted Effect

probably benign
Transcript: ENSMUST00000221943

Predicted Effect

probably benign
Transcript: ENSMUST00000222155
AA Change: A1012V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,070 (GRCm39)		probably null	Het
2410137M14Rik	T	A	17: 37,289,746 (GRCm39)	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acd	A	G	8: 106,424,922 (GRCm39)	V406A	possibly damaging	Het
Acin1	A	T	14: 54,916,685 (GRCm39)		probably benign	Het
Agbl4	T	C	4: 110,812,834 (GRCm39)	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,565,486 (GRCm39)	D819G	probably damaging	Het
BC049715	A	T	6: 136,816,927 (GRCm39)	I56F	possibly damaging	Het
C1rb	A	T	6: 124,551,908 (GRCm39)	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,859 (GRCm39)	R121Q	probably damaging	Het
Cd84	A	G	1: 171,679,688 (GRCm39)	Y122C	probably benign	Het
Cklf	C	A	8: 104,984,067 (GRCm39)	P77T	probably damaging	Het
Clrn2	T	C	5: 45,611,346 (GRCm39)	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 102,963,685 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,169,490 (GRCm39)	D446G	probably benign	Het
Csmd3	T	C	15: 48,177,464 (GRCm39)	E358G	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,896,408 (GRCm39)	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,497,030 (GRCm39)	L734P	probably damaging	Het
Edem2	A	G	2: 155,570,913 (GRCm39)	V39A	possibly damaging	Het
Glmp	A	C	3: 88,233,320 (GRCm39)		probably benign	Het
Gm20775	T	C	Y: 10,641,885 (GRCm39)		noncoding transcript	Het
Gpr179	T	G	11: 97,240,610 (GRCm39)	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,412,750 (GRCm39)	V587A	probably damaging	Het
Igfn1	T	A	1: 135,895,095 (GRCm39)	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,311,589 (GRCm39)	I942N	probably damaging	Het
Ints2	A	G	11: 86,147,035 (GRCm39)	L37P	probably benign	Het
Irgq	T	A	7: 24,233,470 (GRCm39)	L437Q	probably damaging	Het
Kcnq4	A	T	4: 120,570,291 (GRCm39)	W351R	probably damaging	Het
Kif3b	G	A	2: 153,162,288 (GRCm39)	A500T	probably damaging	Het
Lpp	A	G	16: 24,480,430 (GRCm39)	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mc4r	T	A	18: 66,992,559 (GRCm39)	I185F	probably damaging	Het
Mdga1	T	C	17: 30,061,128 (GRCm39)	D621G	probably benign	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Myh11	A	T	16: 14,018,947 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plb1	G	A	5: 32,447,196 (GRCm39)	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,937,816 (GRCm39)	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482 (GRCm39)	M131K	probably benign	Het
Prdm10	T	A	9: 31,241,237 (GRCm39)	*342R	probably null	Het
Prex2	T	C	1: 11,138,244 (GRCm39)	F108L	probably damaging	Het
Psmg2	T	A	18: 67,781,992 (GRCm39)	I186N	probably benign	Het
Ros1	T	A	10: 51,972,271 (GRCm39)	E1614D	probably damaging	Het
Sin3a	G	A	9: 56,994,026 (GRCm39)	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,854,735 (GRCm39)	L639F	possibly damaging	Het
Smr2	T	G	5: 88,246,289 (GRCm39)	L101*	probably null	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Stat5b	G	T	11: 100,681,623 (GRCm39)	H544N	probably benign	Het
Syk	A	T	13: 52,786,963 (GRCm39)	Y319F	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,654,428 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,169 (GRCm39)	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,576,314 (GRCm39)	S500T	probably benign	Het
Vps45	A	C	3: 95,953,725 (GRCm39)	V209G	probably benign	Het
Xrcc1	C	A	7: 24,269,905 (GRCm39)	A442E	probably benign	Het
Ythdc1	T	A	5: 86,970,704 (GRCm39)	V430E	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp422	A	T	6: 116,603,623 (GRCm39)	N125K	probably damaging	Het
Zfp53	T	A	17: 21,725,263 (GRCm39)	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,845,000 (GRCm39)	Q66*	probably null	Het

Other mutations in Naip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Naip1	APN	13	100,580,228 (GRCm39)	critical splice acceptor site	probably null
IGL01145:Naip1	APN	13	100,545,629 (GRCm39)	missense	probably benign	0.00
IGL01356:Naip1	APN	13	100,559,722 (GRCm39)	missense	probably damaging	0.99
IGL01414:Naip1	APN	13	100,545,681 (GRCm39)	critical splice acceptor site	probably null
IGL01505:Naip1	APN	13	100,562,441 (GRCm39)	missense	probably damaging	1.00
IGL01573:Naip1	APN	13	100,563,890 (GRCm39)	missense	probably benign	0.03
IGL01931:Naip1	APN	13	100,545,540 (GRCm39)	nonsense	probably null
IGL02043:Naip1	APN	13	100,563,304 (GRCm39)	missense	probably benign	0.03
IGL02097:Naip1	APN	13	100,562,096 (GRCm39)	missense	probably benign	0.03
IGL02331:Naip1	APN	13	100,563,304 (GRCm39)	missense	probably benign	0.03
IGL02627:Naip1	APN	13	100,562,156 (GRCm39)	missense	possibly damaging	0.68
IGL02675:Naip1	APN	13	100,545,626 (GRCm39)	missense	probably benign
IGL02801:Naip1	APN	13	100,580,876 (GRCm39)	missense	probably damaging	1.00
IGL02851:Naip1	APN	13	100,569,770 (GRCm39)	missense	probably damaging	1.00
IGL03038:Naip1	APN	13	100,573,841 (GRCm39)	nonsense	probably null
IGL03399:Naip1	APN	13	100,545,426 (GRCm39)	missense	probably damaging	1.00
FR4340:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
FR4342:Naip1	UTSW	13	100,561,979 (GRCm39)	missense	probably benign	0.00
R0051:Naip1	UTSW	13	100,547,509 (GRCm39)	missense	probably damaging	0.96
R0095:Naip1	UTSW	13	100,559,591 (GRCm39)	missense	probably benign	0.24
R0147:Naip1	UTSW	13	100,563,418 (GRCm39)	missense	possibly damaging	0.67
R0375:Naip1	UTSW	13	100,545,656 (GRCm39)	missense	probably benign	0.21
R0442:Naip1	UTSW	13	100,581,024 (GRCm39)	missense	probably benign	0.00
R0455:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R0491:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R0614:Naip1	UTSW	13	100,580,708 (GRCm39)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,559,593 (GRCm39)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R0787:Naip1	UTSW	13	100,562,604 (GRCm39)	missense	probably benign	0.22
R1081:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R1177:Naip1	UTSW	13	100,563,572 (GRCm39)	missense	possibly damaging	0.91
R1476:Naip1	UTSW	13	100,563,378 (GRCm39)	missense	probably benign	0.35
R1672:Naip1	UTSW	13	100,559,657 (GRCm39)	missense	probably benign	0.00
R1809:Naip1	UTSW	13	100,562,747 (GRCm39)	missense	probably benign
R2057:Naip1	UTSW	13	100,562,081 (GRCm39)	missense	probably damaging	0.96
R2182:Naip1	UTSW	13	100,550,188 (GRCm39)	missense	probably benign	0.01
R2395:Naip1	UTSW	13	100,559,614 (GRCm39)	missense	possibly damaging	0.83
R2518:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R3033:Naip1	UTSW	13	100,568,966 (GRCm39)	missense	probably benign	0.01
R3122:Naip1	UTSW	13	100,545,503 (GRCm39)	missense	probably damaging	1.00
R3439:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R4167:Naip1	UTSW	13	100,580,794 (GRCm39)	missense	probably benign	0.04
R4179:Naip1	UTSW	13	100,562,684 (GRCm39)	missense	probably damaging	0.99
R4212:Naip1	UTSW	13	100,563,383 (GRCm39)	splice site	probably null
R4639:Naip1	UTSW	13	100,580,791 (GRCm39)	missense	probably benign	0.31
R4674:Naip1	UTSW	13	100,580,682 (GRCm39)	missense	probably damaging	1.00
R4736:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R4740:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R4778:Naip1	UTSW	13	100,563,156 (GRCm39)	missense	probably damaging	1.00
R4855:Naip1	UTSW	13	100,559,728 (GRCm39)	splice site	probably null
R5740:Naip1	UTSW	13	100,569,009 (GRCm39)	critical splice acceptor site	probably null
R5797:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R5806:Naip1	UTSW	13	100,581,243 (GRCm39)	start codon destroyed	probably null	1.00
R5895:Naip1	UTSW	13	100,559,636 (GRCm39)	missense	probably benign	0.00
R5896:Naip1	UTSW	13	100,559,636 (GRCm39)	missense	probably benign	0.00
R6023:Naip1	UTSW	13	100,562,694 (GRCm39)	missense	probably benign	0.00
R6109:Naip1	UTSW	13	100,563,690 (GRCm39)	missense	probably damaging	1.00
R6117:Naip1	UTSW	13	100,581,245 (GRCm39)	start codon destroyed	probably damaging	0.99
R6133:Naip1	UTSW	13	100,581,151 (GRCm39)	missense	probably benign	0.10
R6241:Naip1	UTSW	13	100,562,169 (GRCm39)	missense	probably damaging	0.99
R6335:Naip1	UTSW	13	100,563,060 (GRCm39)	missense	probably damaging	1.00
R6404:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R6475:Naip1	UTSW	13	100,545,596 (GRCm39)	missense	probably damaging	1.00
R6508:Naip1	UTSW	13	100,572,973 (GRCm39)	missense	probably damaging	1.00
R6580:Naip1	UTSW	13	100,581,157 (GRCm39)	missense	probably damaging	0.99
R6600:Naip1	UTSW	13	100,559,666 (GRCm39)	missense	probably benign	0.00
R6600:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R6603:Naip1	UTSW	13	100,559,666 (GRCm39)	missense	probably benign	0.00
R6603:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R6633:Naip1	UTSW	13	100,559,593 (GRCm39)	missense	probably benign	0.00
R6633:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R6720:Naip1	UTSW	13	100,559,585 (GRCm39)	missense	probably benign	0.00
R6805:Naip1	UTSW	13	100,563,849 (GRCm39)	missense	probably benign	0.04
R7043:Naip1	UTSW	13	100,563,422 (GRCm39)	missense	probably damaging	1.00
R7615:Naip1	UTSW	13	100,562,284 (GRCm39)	missense	probably benign	0.00
R7797:Naip1	UTSW	13	100,580,986 (GRCm39)	missense	probably damaging	1.00
R7820:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R7842:Naip1	UTSW	13	100,563,506 (GRCm39)	missense	probably damaging	1.00
R8117:Naip1	UTSW	13	100,563,509 (GRCm39)	missense	possibly damaging	0.67
R8132:Naip1	UTSW	13	100,573,883 (GRCm39)	missense	possibly damaging	0.84
R8177:Naip1	UTSW	13	100,563,911 (GRCm39)	missense	probably benign	0.00
R8203:Naip1	UTSW	13	100,562,328 (GRCm39)	missense	probably benign	0.02
R8283:Naip1	UTSW	13	100,563,695 (GRCm39)	missense	probably damaging	1.00
R8319:Naip1	UTSW	13	100,565,721 (GRCm39)	missense	probably benign	0.13
R8377:Naip1	UTSW	13	100,562,374 (GRCm39)	missense	possibly damaging	0.53
R8864:Naip1	UTSW	13	100,562,828 (GRCm39)	missense	possibly damaging	0.55
R8871:Naip1	UTSW	13	100,580,146 (GRCm39)	missense	probably damaging	1.00
R8987:Naip1	UTSW	13	100,563,434 (GRCm39)	missense	probably damaging	1.00
R9079:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R9275:Naip1	UTSW	13	100,562,684 (GRCm39)	missense	probably damaging	0.99
R9354:Naip1	UTSW	13	100,563,994 (GRCm39)	missense	probably benign	0.31
R9524:Naip1	UTSW	13	100,563,101 (GRCm39)	missense	probably benign	0.06
R9617:Naip1	UTSW	13	100,569,821 (GRCm39)	missense	probably benign	0.01
R9776:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R9802:Naip1	UTSW	13	100,562,713 (GRCm39)	missense	probably benign
RF007:Naip1	UTSW	13	100,562,642 (GRCm39)	missense	probably benign	0.03
X0066:Naip1	UTSW	13	100,573,830 (GRCm39)	missense	probably damaging	1.00
Y4335:Naip1	UTSW	13	100,562,030 (GRCm39)	missense	probably benign	0.00
Y4336:Naip1	UTSW	13	100,562,030 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGACCTCGAGAGACTG -3'
(R):5'- TCCGCCTTTGAACAAATGAAGG -3'

Sequencing Primer
(F):5'- TGAGAAGCAGCTCCTGTTC -3'
(R):5'- CGCCTTTGAACAAATGAAGGAACATG -3'

Posted On

2016-02-04