Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Naip1'

529557

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Birc1a, D13Lsd1, Naip

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100407764-100452869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100423077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1140 (M1140V)

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: M1140V

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

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: M1140V

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: M1140V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686 (GRCm38)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm38)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222 (GRCm38)		probably null	Het
Baz2b	G	T	2: 59,924,890 (GRCm38)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609 (GRCm38)	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869 (GRCm38)	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119 (GRCm38)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548 (GRCm38)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516 (GRCm38)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm38)		probably null	Het
Cox15	A	G	19: 43,736,789 (GRCm38)	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200 (GRCm38)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689 (GRCm38)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646 (GRCm38)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959 (GRCm38)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264 (GRCm38)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623 (GRCm38)	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,657,502 (GRCm38)	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826 (GRCm38)	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497 (GRCm38)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720 (GRCm38)	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832 (GRCm38)	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576 (GRCm38)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304 (GRCm38)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678 (GRCm38)	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135 (GRCm38)	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381 (GRCm38)	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284 (GRCm38)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987 (GRCm38)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347 (GRCm38)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506 (GRCm38)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610 (GRCm38)	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072 (GRCm38)		probably null	Het
Mmp15	A	G	8: 95,365,314 (GRCm38)	N51D	probably benign	Het
Olfr1053	A	G	2: 86,315,065 (GRCm38)	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693 (GRCm38)	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465 (GRCm38)	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153 (GRCm38)	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470 (GRCm38)	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979 (GRCm38)	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069 (GRCm38)	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389 (GRCm38)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052 (GRCm38)		probably null	Het
Plekha4	A	T	7: 45,540,886 (GRCm38)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062 (GRCm38)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108 (GRCm38)	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710 (GRCm38)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432 (GRCm38)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927 (GRCm38)	V165D	possibly damaging	Het

Other mutations in Naip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Naip1	APN	13	100,443,720 (GRCm38)	critical splice acceptor site	probably null
IGL01145:Naip1	APN	13	100,409,121 (GRCm38)	missense	probably benign	0.00
IGL01356:Naip1	APN	13	100,423,214 (GRCm38)	missense	probably damaging	0.99
IGL01414:Naip1	APN	13	100,409,173 (GRCm38)	critical splice acceptor site	probably null
IGL01505:Naip1	APN	13	100,425,933 (GRCm38)	missense	probably damaging	1.00
IGL01573:Naip1	APN	13	100,427,382 (GRCm38)	missense	probably benign	0.03
IGL01931:Naip1	APN	13	100,409,032 (GRCm38)	nonsense	probably null
IGL02043:Naip1	APN	13	100,426,796 (GRCm38)	missense	probably benign	0.03
IGL02097:Naip1	APN	13	100,425,588 (GRCm38)	missense	probably benign	0.03
IGL02331:Naip1	APN	13	100,426,796 (GRCm38)	missense	probably benign	0.03
IGL02627:Naip1	APN	13	100,425,648 (GRCm38)	missense	possibly damaging	0.68
IGL02675:Naip1	APN	13	100,409,118 (GRCm38)	missense	probably benign
IGL02801:Naip1	APN	13	100,444,368 (GRCm38)	missense	probably damaging	1.00
IGL02851:Naip1	APN	13	100,433,262 (GRCm38)	missense	probably damaging	1.00
IGL03038:Naip1	APN	13	100,437,333 (GRCm38)	nonsense	probably null
IGL03399:Naip1	APN	13	100,408,918 (GRCm38)	missense	probably damaging	1.00
FR4340:Naip1	UTSW	13	100,423,076 (GRCm38)	missense	probably benign
FR4342:Naip1	UTSW	13	100,425,471 (GRCm38)	missense	probably benign	0.00
R0051:Naip1	UTSW	13	100,411,001 (GRCm38)	missense	probably damaging	0.96
R0095:Naip1	UTSW	13	100,423,083 (GRCm38)	missense	probably benign	0.24
R0147:Naip1	UTSW	13	100,426,910 (GRCm38)	missense	possibly damaging	0.67
R0375:Naip1	UTSW	13	100,409,148 (GRCm38)	missense	probably benign	0.21
R0442:Naip1	UTSW	13	100,444,516 (GRCm38)	missense	probably benign	0.00
R0455:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R0491:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R0614:Naip1	UTSW	13	100,444,200 (GRCm38)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,423,085 (GRCm38)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,423,076 (GRCm38)	missense	probably benign
R0787:Naip1	UTSW	13	100,426,096 (GRCm38)	missense	probably benign	0.22
R1081:Naip1	UTSW	13	100,423,070 (GRCm38)	missense	probably benign	0.21
R1177:Naip1	UTSW	13	100,427,064 (GRCm38)	missense	possibly damaging	0.91
R1476:Naip1	UTSW	13	100,426,870 (GRCm38)	missense	probably benign	0.35
R1672:Naip1	UTSW	13	100,423,149 (GRCm38)	missense	probably benign	0.00
R1809:Naip1	UTSW	13	100,426,239 (GRCm38)	missense	probably benign
R2057:Naip1	UTSW	13	100,425,573 (GRCm38)	missense	probably damaging	0.96
R2182:Naip1	UTSW	13	100,413,680 (GRCm38)	missense	probably benign	0.01
R2395:Naip1	UTSW	13	100,423,106 (GRCm38)	missense	possibly damaging	0.83
R2518:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R3033:Naip1	UTSW	13	100,432,458 (GRCm38)	missense	probably benign	0.01
R3122:Naip1	UTSW	13	100,408,995 (GRCm38)	missense	probably damaging	1.00
R3439:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R4167:Naip1	UTSW	13	100,444,286 (GRCm38)	missense	probably benign	0.04
R4179:Naip1	UTSW	13	100,426,176 (GRCm38)	missense	probably damaging	0.99
R4212:Naip1	UTSW	13	100,426,875 (GRCm38)	splice site	probably null
R4639:Naip1	UTSW	13	100,444,283 (GRCm38)	missense	probably benign	0.31
R4674:Naip1	UTSW	13	100,444,174 (GRCm38)	missense	probably damaging	1.00
R4736:Naip1	UTSW	13	100,444,526 (GRCm38)	missense	possibly damaging	0.47
R4740:Naip1	UTSW	13	100,444,526 (GRCm38)	missense	possibly damaging	0.47
R4778:Naip1	UTSW	13	100,426,648 (GRCm38)	missense	probably damaging	1.00
R4806:Naip1	UTSW	13	100,425,621 (GRCm38)	missense	probably benign	0.00
R4855:Naip1	UTSW	13	100,423,220 (GRCm38)	splice site	probably null
R5740:Naip1	UTSW	13	100,432,501 (GRCm38)	critical splice acceptor site	probably null
R5797:Naip1	UTSW	13	100,444,526 (GRCm38)	missense	possibly damaging	0.47
R5806:Naip1	UTSW	13	100,444,735 (GRCm38)	start codon destroyed	probably null	1.00
R5895:Naip1	UTSW	13	100,423,128 (GRCm38)	missense	probably benign	0.00
R5896:Naip1	UTSW	13	100,423,128 (GRCm38)	missense	probably benign	0.00
R6023:Naip1	UTSW	13	100,426,186 (GRCm38)	missense	probably benign	0.00
R6109:Naip1	UTSW	13	100,427,182 (GRCm38)	missense	probably damaging	1.00
R6117:Naip1	UTSW	13	100,444,737 (GRCm38)	start codon destroyed	probably damaging	0.99
R6133:Naip1	UTSW	13	100,444,643 (GRCm38)	missense	probably benign	0.10
R6241:Naip1	UTSW	13	100,425,661 (GRCm38)	missense	probably damaging	0.99
R6335:Naip1	UTSW	13	100,426,552 (GRCm38)	missense	probably damaging	1.00
R6404:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R6475:Naip1	UTSW	13	100,409,088 (GRCm38)	missense	probably damaging	1.00
R6508:Naip1	UTSW	13	100,436,465 (GRCm38)	missense	probably damaging	1.00
R6580:Naip1	UTSW	13	100,444,649 (GRCm38)	missense	probably damaging	0.99
R6600:Naip1	UTSW	13	100,423,158 (GRCm38)	missense	probably benign	0.00
R6600:Naip1	UTSW	13	100,423,070 (GRCm38)	missense	probably benign	0.21
R6603:Naip1	UTSW	13	100,423,158 (GRCm38)	missense	probably benign	0.00
R6603:Naip1	UTSW	13	100,423,070 (GRCm38)	missense	probably benign	0.21
R6633:Naip1	UTSW	13	100,423,085 (GRCm38)	missense	probably benign	0.00
R6633:Naip1	UTSW	13	100,423,076 (GRCm38)	missense	probably benign
R6805:Naip1	UTSW	13	100,427,341 (GRCm38)	missense	probably benign	0.04
R7043:Naip1	UTSW	13	100,426,914 (GRCm38)	missense	probably damaging	1.00
R7615:Naip1	UTSW	13	100,425,776 (GRCm38)	missense	probably benign	0.00
R7797:Naip1	UTSW	13	100,444,478 (GRCm38)	missense	probably damaging	1.00
R7820:Naip1	UTSW	13	100,423,070 (GRCm38)	missense	probably benign	0.21
R7842:Naip1	UTSW	13	100,426,998 (GRCm38)	missense	probably damaging	1.00
R8117:Naip1	UTSW	13	100,427,001 (GRCm38)	missense	possibly damaging	0.67
R8132:Naip1	UTSW	13	100,437,375 (GRCm38)	missense	possibly damaging	0.84
R8177:Naip1	UTSW	13	100,427,403 (GRCm38)	missense	probably benign	0.00
R8203:Naip1	UTSW	13	100,425,820 (GRCm38)	missense	probably benign	0.02
R8283:Naip1	UTSW	13	100,427,187 (GRCm38)	missense	probably damaging	1.00
R8319:Naip1	UTSW	13	100,429,213 (GRCm38)	missense	probably benign	0.13
R8377:Naip1	UTSW	13	100,425,866 (GRCm38)	missense	possibly damaging	0.53
R8864:Naip1	UTSW	13	100,426,320 (GRCm38)	missense	possibly damaging	0.55
R8871:Naip1	UTSW	13	100,443,638 (GRCm38)	missense	probably damaging	1.00
R8987:Naip1	UTSW	13	100,426,926 (GRCm38)	missense	probably damaging	1.00
R9079:Naip1	UTSW	13	100,423,219 (GRCm38)	missense	probably benign	0.00
R9275:Naip1	UTSW	13	100,426,176 (GRCm38)	missense	probably damaging	0.99
R9354:Naip1	UTSW	13	100,427,486 (GRCm38)	missense	probably benign	0.31
R9524:Naip1	UTSW	13	100,426,593 (GRCm38)	missense	probably benign	0.06
R9617:Naip1	UTSW	13	100,433,313 (GRCm38)	missense	probably benign	0.01
R9776:Naip1	UTSW	13	100,423,076 (GRCm38)	missense	probably benign
R9802:Naip1	UTSW	13	100,426,205 (GRCm38)	missense	probably benign
RF007:Naip1	UTSW	13	100,426,134 (GRCm38)	missense	probably benign	0.03
X0066:Naip1	UTSW	13	100,437,322 (GRCm38)	missense	probably damaging	1.00
Y4335:Naip1	UTSW	13	100,425,522 (GRCm38)	missense	probably benign	0.00
Y4336:Naip1	UTSW	13	100,425,522 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGATGAATAAGAACACTGATCCCAC -3'
(R):5'- GCTGAAGCACCTTGAGAACTTG -3'

Sequencing Primer
(F):5'- TGATCCCACCCCATCCCAG -3'
(R):5'- GAAGCACCTTGAGAACTTGCACTTG -3'

Posted On

2018-08-01