Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:Naip1'

212508

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0455 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100559727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1092 (D1092E)

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: D1092E

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

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: D1092E

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: D1092E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,088,180 (GRCm39)	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,261,675 (GRCm39)	R399W	probably damaging	Het
Arb2a	T	A	13: 77,982,832 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,662,492 (GRCm39)	V256A	probably benign	Het
Atp2b4	A	T	1: 133,656,454 (GRCm39)	I732N	probably damaging	Het
C1qtnf9	A	C	14: 61,009,820 (GRCm39)	Q25H	probably damaging	Het
Ccdc6	T	A	10: 69,978,401 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,756,603 (GRCm39)	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,421,262 (GRCm39)		probably benign	Het
Cts3	G	A	13: 61,716,024 (GRCm39)		probably benign	Het
Cyfip1	T	A	7: 55,541,802 (GRCm39)	D362E	probably benign	Het
Dsg1b	T	A	18: 20,529,082 (GRCm39)	S273T	probably benign	Het
Dysf	A	T	6: 84,117,649 (GRCm39)	H1274L	probably benign	Het
Eva1c	T	C	16: 90,672,986 (GRCm39)	S187P	probably benign	Het
Fam13b	G	A	18: 34,578,581 (GRCm39)		probably benign	Het
Fbn2	C	T	18: 58,168,408 (GRCm39)	G2310S	probably damaging	Het
Fcna	T	C	2: 25,515,520 (GRCm39)	Y183C	probably damaging	Het
Fnta	T	C	8: 26,491,056 (GRCm39)	T263A	probably benign	Het
Gm94	T	C	18: 43,914,309 (GRCm39)	D83G	possibly damaging	Het
Gnal	C	T	18: 67,268,720 (GRCm39)		probably benign	Het
Grb7	T	G	11: 98,343,014 (GRCm39)	S244A	probably benign	Het
Grm3	T	C	5: 9,562,477 (GRCm39)	T458A	probably benign	Het
Hdac2	C	T	10: 36,867,832 (GRCm39)	R193C	probably damaging	Het
Hycc2	T	C	1: 58,573,638 (GRCm39)		probably benign	Het
Ighmbp2	T	C	19: 3,315,072 (GRCm39)	R783G	probably benign	Het
Inpp5j	G	T	11: 3,453,122 (GRCm39)	L43I	possibly damaging	Het
Itga11	A	T	9: 62,604,243 (GRCm39)	T44S	probably damaging	Het
Itsn1	C	T	16: 91,665,036 (GRCm39)		probably benign	Het
Kdm6b	G	T	11: 69,297,822 (GRCm39)	C233*	probably null	Het
Lamb3	T	C	1: 193,025,700 (GRCm39)	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,807,250 (GRCm39)	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,916,425 (GRCm39)	V814E	probably benign	Het
Megf10	C	T	18: 57,386,054 (GRCm39)	P356S	probably benign	Het
Myorg	G	A	4: 41,499,538 (GRCm39)	R31*	probably null	Het
Nus1	T	A	10: 52,306,190 (GRCm39)	V42E	probably damaging	Het
Or11g24	A	G	14: 50,662,359 (GRCm39)	I128V	possibly damaging	Het
Or2a51	A	C	6: 43,179,006 (GRCm39)	M143L	probably benign	Het
Padi3	T	C	4: 140,523,024 (GRCm39)	N306S	probably damaging	Het
Pex13	T	C	11: 23,605,949 (GRCm39)	S94G	probably benign	Het
Ppm1h	G	T	10: 122,638,229 (GRCm39)	Q166H	probably benign	Het
Ptafr	A	T	4: 132,307,396 (GRCm39)	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,377,132 (GRCm39)	D321E	probably damaging	Het
Samsn1	C	T	16: 75,742,113 (GRCm39)		noncoding transcript	Het
Scarb1	T	C	5: 125,366,745 (GRCm39)	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,379,340 (GRCm39)	I249T	possibly damaging	Het
Srpra	A	G	9: 35,126,277 (GRCm39)	K490R	probably benign	Het
Sycn	A	G	7: 28,240,398 (GRCm39)	N22D	probably benign	Het
Tarbp1	C	T	8: 127,167,612 (GRCm39)	A1067T	probably benign	Het
Tex14	A	G	11: 87,405,131 (GRCm39)	D681G	possibly damaging	Het
Usp34	C	T	11: 23,396,741 (GRCm39)		probably benign	Het
Vmn2r107	T	C	17: 20,595,085 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,187,528 (GRCm39)	M653K	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	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
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	100,559,584 (GRCm39)	missense	probably benign
R0785:Naip1	UTSW	13	100,559,593 (GRCm39)	missense	probably benign	0.00
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
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'- GACATGAGCTGGAGATCAAGCACC -3'
(R):5'- TGTGAGTCTAGAGACCAGCACAGG -3'

Sequencing Primer
(F):5'- ACCATCCTTACCTAGTTTGGAGAG -3'
(R):5'- GCTTGCCCTAGAGTCTGC -3'

Posted On

2014-07-08