Incidental Mutation 'R5896:Naip1'
ID |
457545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naip1
|
Ensembl Gene |
ENSMUSG00000021640 |
Gene Name |
NLR family, apoptosis inhibitory protein 1 |
Synonyms |
Naip, Birc1a, D13Lsd1 |
MMRRC Submission |
044095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5896 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100544272-100589372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100559636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 1123
(G1123R)
|
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: G1123R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000022142 Gene: ENSMUSG00000021640 AA Change: G1123R
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: G1123R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
99% (86/87) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
A |
T |
16: 88,504,321 (GRCm39) |
S159T |
probably damaging |
Het |
2610028H24Rik |
T |
A |
10: 76,288,664 (GRCm39) |
M53K |
probably benign |
Het |
3425401B19Rik |
G |
A |
14: 32,383,632 (GRCm39) |
Q778* |
probably null |
Het |
Abhd16a |
T |
A |
17: 35,310,701 (GRCm39) |
|
probably benign |
Het |
Acp6 |
A |
G |
3: 97,075,810 (GRCm39) |
K226R |
probably benign |
Het |
Ankfy1 |
A |
G |
11: 72,650,811 (GRCm39) |
D998G |
probably damaging |
Het |
Apbb1 |
G |
T |
7: 105,223,432 (GRCm39) |
P60T |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,705 (GRCm39) |
I221F |
probably benign |
Het |
Arhgap29 |
A |
G |
3: 121,805,736 (GRCm39) |
E947G |
possibly damaging |
Het |
B430218F22Rik |
A |
T |
13: 118,523,934 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
ACCCCC |
ACCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
Ccdc93 |
G |
T |
1: 121,390,849 (GRCm39) |
V274L |
possibly damaging |
Het |
Cdc25a |
A |
G |
9: 109,713,433 (GRCm39) |
D191G |
probably benign |
Het |
Cimip2a |
A |
T |
2: 25,110,578 (GRCm39) |
M129L |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,182,373 (GRCm39) |
|
probably null |
Het |
Crebzf |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
7: 90,092,479 (GRCm39) |
|
probably benign |
Het |
Csde1 |
T |
C |
3: 102,947,859 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
A |
G |
18: 80,502,003 (GRCm39) |
L177P |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,272,206 (GRCm39) |
H1003Q |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,369,494 (GRCm39) |
N604K |
probably damaging |
Het |
Fig4 |
T |
A |
10: 41,130,881 (GRCm39) |
N465Y |
possibly damaging |
Het |
Gemin7 |
G |
A |
7: 19,299,223 (GRCm39) |
S124F |
probably damaging |
Het |
Gli3 |
G |
A |
13: 15,900,765 (GRCm39) |
R1384K |
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,457 (GRCm39) |
C544Y |
probably damaging |
Het |
Grm1 |
C |
T |
10: 10,956,294 (GRCm39) |
|
probably benign |
Het |
H2-T15 |
T |
A |
17: 36,367,236 (GRCm39) |
M329L |
probably benign |
Het |
Hps4 |
C |
T |
5: 112,517,351 (GRCm39) |
T246I |
probably benign |
Het |
Ifngr2 |
A |
T |
16: 91,358,653 (GRCm39) |
E284D |
possibly damaging |
Het |
Impdh2 |
A |
G |
9: 108,441,165 (GRCm39) |
T148A |
probably benign |
Het |
Irx3 |
T |
C |
8: 92,527,763 (GRCm39) |
S36G |
probably benign |
Het |
Itga5 |
T |
A |
15: 103,259,514 (GRCm39) |
K667N |
probably benign |
Het |
Itgad |
G |
A |
7: 127,773,188 (GRCm39) |
C15Y |
probably benign |
Het |
Ly75 |
T |
G |
2: 60,213,490 (GRCm39) |
E29A |
probably benign |
Het |
Magi1 |
T |
A |
6: 93,685,180 (GRCm39) |
S506C |
probably damaging |
Het |
Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
Med23 |
T |
C |
10: 24,778,043 (GRCm39) |
L797P |
probably damaging |
Het |
Ncor1 |
G |
T |
11: 62,274,016 (GRCm39) |
P55Q |
probably damaging |
Het |
Odr4 |
A |
T |
1: 150,256,111 (GRCm39) |
N211K |
probably benign |
Het |
Ofcc1 |
T |
A |
13: 40,334,060 (GRCm39) |
I344F |
probably benign |
Het |
Or4a74 |
C |
A |
2: 89,439,667 (GRCm39) |
V260F |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,189 (GRCm39) |
M199K |
probably damaging |
Het |
Or5d35 |
A |
G |
2: 87,855,465 (GRCm39) |
Y133C |
probably damaging |
Het |
Or5k1 |
G |
A |
16: 58,618,095 (GRCm39) |
T38I |
probably damaging |
Het |
Otub2 |
C |
T |
12: 103,369,687 (GRCm39) |
|
probably benign |
Het |
Parva |
A |
G |
7: 112,143,960 (GRCm39) |
M83V |
probably benign |
Het |
Pcdha8 |
T |
A |
18: 37,126,572 (GRCm39) |
N351K |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,732 (GRCm39) |
L704* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,353,468 (GRCm39) |
L683H |
probably damaging |
Het |
Plekhn1 |
C |
T |
4: 156,308,331 (GRCm39) |
R288H |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,627,086 (GRCm39) |
N1457K |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,693,719 (GRCm39) |
S981P |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,159,648 (GRCm39) |
K1062E |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,276,007 (GRCm39) |
T498S |
probably benign |
Het |
Pus7l |
C |
T |
15: 94,427,332 (GRCm39) |
|
probably null |
Het |
Rptn |
C |
T |
3: 93,305,639 (GRCm39) |
Q991* |
probably null |
Het |
Rsu1 |
T |
G |
2: 13,229,170 (GRCm39) |
E76A |
probably damaging |
Het |
Septin11 |
T |
A |
5: 93,304,824 (GRCm39) |
F214I |
probably damaging |
Het |
Slc1a7 |
G |
T |
4: 107,869,587 (GRCm39) |
A551S |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,000,941 (GRCm39) |
Y13* |
probably null |
Het |
Slc7a14 |
T |
G |
3: 31,311,719 (GRCm39) |
L100F |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,598,932 (GRCm39) |
E1512G |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,767,883 (GRCm39) |
Q458R |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,084,906 (GRCm39) |
T1811A |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,179,667 (GRCm39) |
F624L |
probably benign |
Het |
Tfeb |
T |
G |
17: 48,070,433 (GRCm39) |
|
probably null |
Het |
Tnxb |
G |
A |
17: 34,891,126 (GRCm39) |
G490R |
probably damaging |
Het |
Tra2b |
T |
C |
16: 22,077,953 (GRCm39) |
Y32C |
probably damaging |
Het |
Trpv4 |
C |
T |
5: 114,760,708 (GRCm39) |
|
probably benign |
Het |
Uvrag |
A |
T |
7: 98,637,414 (GRCm39) |
L138* |
probably null |
Het |
Vwf |
A |
T |
6: 125,655,725 (GRCm39) |
|
probably null |
Het |
Wdr47 |
G |
A |
3: 108,526,322 (GRCm39) |
D282N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,340,290 (GRCm39) |
N844D |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,339,042 (GRCm39) |
M428V |
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,880,920 (GRCm39) |
T288I |
probably 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 |
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 |
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 |
|
Posted On |
2017-02-15 |