Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Naip1'

279611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100562096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1023 (V1023A)

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: V1023A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: V1023A

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: V1023A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	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
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	100,559,584 (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

Posted On

2015-04-16