Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Naip1'

319651

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

MMRRC Submission

041015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100562684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 827 (N827I)

Ref Sequence

ENSEMBL: ENSMUSP00000152583 (fasta)

Gene Model

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

AlphaFold

Q9QWK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022142
AA Change: N827I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: N827I

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 damaging
Transcript: ENSMUST00000222155
AA Change: N827I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.2557

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,128 (GRCm39)	M506V	probably benign	Het
Ano1	A	T	7: 144,204,242 (GRCm39)	M290K	probably damaging	Het
Arrdc2	A	T	8: 71,289,821 (GRCm39)	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,829,935 (GRCm39)	T77N	probably benign	Het
Cmtr2	C	G	8: 110,947,669 (GRCm39)		probably null	Het
Cnot2	A	T	10: 116,334,048 (GRCm39)	V374E	possibly damaging	Het
Crnn	T	C	3: 93,054,120 (GRCm39)	M1T	probably null	Het
Ctsb	A	G	14: 63,370,901 (GRCm39)	N38D	probably benign	Het
Dock10	A	C	1: 80,488,134 (GRCm39)	S2010A	probably benign	Het
Dqx1	A	G	6: 83,036,460 (GRCm39)	T155A	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eci1	T	C	17: 24,655,251 (GRCm39)	W119R	probably damaging	Het
Foxo1	C	A	3: 52,252,840 (GRCm39)	D334E	probably benign	Het
Gck	T	C	11: 5,860,295 (GRCm39)	T116A	probably benign	Het
Gcn1	T	C	5: 115,726,109 (GRCm39)	V588A	probably benign	Het
Gm7168	A	G	17: 14,169,265 (GRCm39)	I211V	probably benign	Het
Idh3g	A	T	X: 72,825,610 (GRCm39)		probably null	Het
Jag1	A	G	2: 136,943,578 (GRCm39)	F206S	probably damaging	Het
Loxl3	G	A	6: 83,014,565 (GRCm39)	V158I	probably benign	Het
Ly6g	A	G	15: 75,027,567 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,685 (GRCm39)	F532L	probably damaging	Het
Nlrp9c	G	A	7: 26,084,086 (GRCm39)	H498Y	possibly damaging	Het
Or10d1b	A	G	9: 39,613,387 (GRCm39)	I226T	probably benign	Het
Pak2	C	G	16: 31,871,005 (GRCm39)	G59A	probably benign	Het
Pcdha2	T	A	18: 37,074,529 (GRCm39)	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,534,168 (GRCm39)	M54K	probably benign	Het
Pde2a	A	G	7: 101,130,590 (GRCm39)	*71W	probably null	Het
Pkd2l1	T	C	19: 44,180,620 (GRCm39)	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,387,045 (GRCm39)	Y1306S	probably benign	Het
Plec	T	C	15: 76,064,415 (GRCm39)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,413,231 (GRCm39)	G647C	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Qser1	A	G	2: 104,606,729 (GRCm39)	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,279 (GRCm39)	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,172,274 (GRCm39)		probably null	Het
Riok1	T	C	13: 38,232,931 (GRCm39)	F216L	probably damaging	Het
Rrm1	T	A	7: 102,106,405 (GRCm39)	I308N	probably damaging	Het
Serpina1f	A	T	12: 103,658,179 (GRCm39)	M242K	probably benign	Het
Smox	G	A	2: 131,366,770 (GRCm39)	M576I	possibly damaging	Het
Spaca7	A	T	8: 12,636,435 (GRCm39)	N87I	probably damaging	Het
Spink5	A	T	18: 44,120,934 (GRCm39)	Q296L	probably benign	Het
Sspo	T	C	6: 48,475,329 (GRCm39)		probably null	Het
Sult2b1	T	A	7: 45,384,735 (GRCm39)	I114F	probably damaging	Het
Tex12	T	C	9: 50,470,587 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,508,675 (GRCm39)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsen54	T	C	11: 115,711,678 (GRCm39)	V365A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp47	T	C	7: 111,687,091 (GRCm39)	L683P	probably damaging	Het
Wdr18	T	C	10: 79,800,875 (GRCm39)	L146P	probably damaging	Het
Zfp709	A	G	8: 72,643,750 (GRCm39)	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,888,601 (GRCm39)	I828N	possibly damaging	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
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
R4806:Naip1	UTSW	13	100,562,129 (GRCm39)	missense	probably benign	0.00
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'- AGCCAGTGTTCTCCCTCTAAG -3'
(R):5'- TGCCATGAGACTGACTGAAC -3'

Sequencing Primer
(F):5'- AGTGTTCTCCCTCTAAGGAACTG -3'
(R):5'- GCCATGAGACTGACTGAACTTCTG -3'

Posted On

2015-06-10