Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:Naip1'

319268

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Birc1a, D13Lsd1, Naip

MMRRC Submission

041641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100407764-100452869 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100426875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152253 (fasta)

Gene Model

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

AlphaFold

Q9QWK5

Predicted Effect

probably benign
Transcript: ENSMUST00000022142
AA Change: D594G

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

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: D594G

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 null
Transcript: ENSMUST00000221727

Predicted Effect

probably benign
Transcript: ENSMUST00000221943

Predicted Effect

probably benign
Transcript: ENSMUST00000222155
AA Change: D594G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,381,991	G269E	probably damaging	Het
A1bg	G	T	15: 60,919,736	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,906,174	V536A	probably damaging	Het
AI464131	T	C	4: 41,498,307	E441G	probably benign	Het
Arsi	A	T	18: 60,916,701	I219F	probably damaging	Het
Atg7	G	A	6: 114,703,425	G447E	probably benign	Het
Bdp1	T	A	13: 100,059,585	H1223L	probably benign	Het
Cep152	A	G	2: 125,620,001	M87T	probably benign	Het
Chrm3	T	C	13: 9,877,755	D415G	probably benign	Het
Chrnb2	A	T	3: 89,761,544	C155S	probably damaging	Het
Col6a4	T	A	9: 106,075,370	Q443L	probably benign	Het
D5Ertd579e	A	T	5: 36,614,479	D857E	probably damaging	Het
Efcab6	T	C	15: 83,892,863	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,460,353	A440T	probably benign	Het
Gc	T	C	5: 89,435,575	K370E	probably benign	Het
Gm11559	A	G	11: 99,864,900	Q125R	unknown	Het
Gm3985	A	T	8: 32,942,456		noncoding transcript	Het
Gm648	C	T	X: 56,545,208	V78I	probably benign	Het
Gm8765	C	T	13: 50,700,352	T82I	possibly damaging	Het
Gucy2e	A	G	11: 69,228,123	F681S	probably damaging	Het
Hip1r	A	G	5: 123,999,890	I760V	probably benign	Het
Islr2	C	T	9: 58,199,320	G219D	probably damaging	Het
Itgae	A	G	11: 73,119,352	H556R	probably benign	Het
Jag1	T	C	2: 137,085,070	D923G	probably benign	Het
Kmt2c	A	G	5: 25,347,359		probably null	Het
Kmt2d	A	G	15: 98,845,003		probably benign	Het
Krtap17-1	A	G	11: 99,993,914	L9P	unknown	Het
Lats2	C	T	14: 57,696,255	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,843,820	T632S	probably benign	Het
Myo9a	C	T	9: 59,906,066	R2183*	probably null	Het
Nf1	T	A	11: 79,469,798	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,447,115	Y91C	possibly damaging	Het
Olfr1454	T	G	19: 13,063,759	M116R	probably damaging	Het
Olfr173	T	A	16: 58,797,369	H159L	possibly damaging	Het
Olfr723	A	T	14: 49,928,889	Y218*	probably null	Het
Pard3	T	A	8: 127,610,458	I1143K	probably benign	Het
Pcdha7	A	G	18: 36,974,974	T351A	probably benign	Het
Phf2	C	A	13: 48,820,613	G318V	unknown	Het
Plch1	T	A	3: 63,870,759		probably benign	Het
Polr1c	A	G	17: 46,246,120	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,469,551	I244T	probably damaging	Het
Psmd12	T	C	11: 107,485,759	C74R	probably damaging	Het
Ralgapa1	A	G	12: 55,739,330		probably null	Het
Robo3	C	T	9: 37,421,898	G781D	probably damaging	Het
Scn8a	T	C	15: 100,957,073	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,603,398	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,332,306	L139*	probably null	Het
Slc2a12	A	T	10: 22,702,094	K596N	probably benign	Het
Sorcs1	G	A	19: 50,225,175	R705C	probably damaging	Het
Tlr4	T	A	4: 66,840,326	I452N	probably damaging	Het
Tshz3	A	G	7: 36,770,119	D511G	probably damaging	Het
Usp44	A	G	10: 93,846,770	K314E	possibly damaging	Het

Other mutations in Naip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Naip1	APN	13	100443720	critical splice acceptor site	probably null
IGL01145:Naip1	APN	13	100409121	missense	probably benign	0.00
IGL01356:Naip1	APN	13	100423214	missense	probably damaging	0.99
IGL01414:Naip1	APN	13	100409173	critical splice acceptor site	probably null
IGL01505:Naip1	APN	13	100425933	missense	probably damaging	1.00
IGL01573:Naip1	APN	13	100427382	missense	probably benign	0.03
IGL01931:Naip1	APN	13	100409032	nonsense	probably null
IGL02043:Naip1	APN	13	100426796	missense	probably benign	0.03
IGL02097:Naip1	APN	13	100425588	missense	probably benign	0.03
IGL02331:Naip1	APN	13	100426796	missense	probably benign	0.03
IGL02627:Naip1	APN	13	100425648	missense	possibly damaging	0.68
IGL02675:Naip1	APN	13	100409118	missense	probably benign
IGL02801:Naip1	APN	13	100444368	missense	probably damaging	1.00
IGL02851:Naip1	APN	13	100433262	missense	probably damaging	1.00
IGL03038:Naip1	APN	13	100437333	nonsense	probably null
IGL03399:Naip1	APN	13	100408918	missense	probably damaging	1.00
FR4340:Naip1	UTSW	13	100423076	missense	probably benign
FR4342:Naip1	UTSW	13	100425471	missense	probably benign	0.00
R0051:Naip1	UTSW	13	100411001	missense	probably damaging	0.96
R0095:Naip1	UTSW	13	100423083	missense	probably benign	0.24
R0147:Naip1	UTSW	13	100426910	missense	possibly damaging	0.67
R0375:Naip1	UTSW	13	100409148	missense	probably benign	0.21
R0442:Naip1	UTSW	13	100444516	missense	probably benign	0.00
R0455:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R0491:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R0614:Naip1	UTSW	13	100444200	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100423076	missense	probably benign
R0785:Naip1	UTSW	13	100423085	missense	probably benign	0.00
R0787:Naip1	UTSW	13	100426096	missense	probably benign	0.22
R1081:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R1177:Naip1	UTSW	13	100427064	missense	possibly damaging	0.91
R1476:Naip1	UTSW	13	100426870	missense	probably benign	0.35
R1672:Naip1	UTSW	13	100423149	missense	probably benign	0.00
R1809:Naip1	UTSW	13	100426239	missense	probably benign
R2057:Naip1	UTSW	13	100425573	missense	probably damaging	0.96
R2182:Naip1	UTSW	13	100413680	missense	probably benign	0.01
R2395:Naip1	UTSW	13	100423106	missense	possibly damaging	0.83
R2518:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R3033:Naip1	UTSW	13	100432458	missense	probably benign	0.01
R3122:Naip1	UTSW	13	100408995	missense	probably damaging	1.00
R3439:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R4167:Naip1	UTSW	13	100444286	missense	probably benign	0.04
R4179:Naip1	UTSW	13	100426176	missense	probably damaging	0.99
R4639:Naip1	UTSW	13	100444283	missense	probably benign	0.31
R4674:Naip1	UTSW	13	100444174	missense	probably damaging	1.00
R4736:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R4740:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R4778:Naip1	UTSW	13	100426648	missense	probably damaging	1.00
R4806:Naip1	UTSW	13	100425621	missense	probably benign	0.00
R4855:Naip1	UTSW	13	100423220	splice site	probably null
R5740:Naip1	UTSW	13	100432501	critical splice acceptor site	probably null
R5797:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R5806:Naip1	UTSW	13	100444735	start codon destroyed	probably null	1.00
R5895:Naip1	UTSW	13	100423128	missense	probably benign	0.00
R5896:Naip1	UTSW	13	100423128	missense	probably benign	0.00
R6023:Naip1	UTSW	13	100426186	missense	probably benign	0.00
R6109:Naip1	UTSW	13	100427182	missense	probably damaging	1.00
R6117:Naip1	UTSW	13	100444737	start codon destroyed	probably damaging	0.99
R6133:Naip1	UTSW	13	100444643	missense	probably benign	0.10
R6241:Naip1	UTSW	13	100425661	missense	probably damaging	0.99
R6335:Naip1	UTSW	13	100426552	missense	probably damaging	1.00
R6404:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R6475:Naip1	UTSW	13	100409088	missense	probably damaging	1.00
R6508:Naip1	UTSW	13	100436465	missense	probably damaging	1.00
R6580:Naip1	UTSW	13	100444649	missense	probably damaging	0.99
R6600:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R6600:Naip1	UTSW	13	100423158	missense	probably benign	0.00
R6603:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R6603:Naip1	UTSW	13	100423158	missense	probably benign	0.00
R6633:Naip1	UTSW	13	100423076	missense	probably benign
R6633:Naip1	UTSW	13	100423085	missense	probably benign	0.00
R6720:Naip1	UTSW	13	100423077	missense	probably benign	0.00
R6805:Naip1	UTSW	13	100427341	missense	probably benign	0.04
R7043:Naip1	UTSW	13	100426914	missense	probably damaging	1.00
R7615:Naip1	UTSW	13	100425776	missense	probably benign	0.00
R7797:Naip1	UTSW	13	100444478	missense	probably damaging	1.00
R7820:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R7842:Naip1	UTSW	13	100426998	missense	probably damaging	1.00
R8117:Naip1	UTSW	13	100427001	missense	possibly damaging	0.67
R8132:Naip1	UTSW	13	100437375	missense	possibly damaging	0.84
R8177:Naip1	UTSW	13	100427403	missense	probably benign	0.00
R8203:Naip1	UTSW	13	100425820	missense	probably benign	0.02
R8283:Naip1	UTSW	13	100427187	missense	probably damaging	1.00
R8319:Naip1	UTSW	13	100429213	missense	probably benign	0.13
R8377:Naip1	UTSW	13	100425866	missense	possibly damaging	0.53
R8864:Naip1	UTSW	13	100426320	missense	possibly damaging	0.55
R8871:Naip1	UTSW	13	100443638	missense	probably damaging	1.00
R8987:Naip1	UTSW	13	100426926	missense	probably damaging	1.00
R9079:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R9275:Naip1	UTSW	13	100426176	missense	probably damaging	0.99
R9354:Naip1	UTSW	13	100427486	missense	probably benign	0.31
R9524:Naip1	UTSW	13	100426593	missense	probably benign	0.06
R9617:Naip1	UTSW	13	100433313	missense	probably benign	0.01
R9776:Naip1	UTSW	13	100423076	missense	probably benign
R9802:Naip1	UTSW	13	100426205	missense	probably benign
RF007:Naip1	UTSW	13	100426134	missense	probably benign	0.03
X0066:Naip1	UTSW	13	100437322	missense	probably damaging	1.00
Y4335:Naip1	UTSW	13	100425522	missense	probably benign	0.00
Y4336:Naip1	UTSW	13	100425522	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCCTGAAAGGGCTGGTCAG -3'
(R):5'- TAGTGAAGTGTGTCTGAGCAGC -3'

Sequencing Primer
(F):5'- GCTGGTCAGATGGATTTTCAAACCAG -3'
(R):5'- AAGTGTGTCTGAGCAGCATCATC -3'

Posted On

2015-06-10