Incidental Mutation 'R9617:Naip1'
ID |
726540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naip1
|
Ensembl Gene |
ENSMUSG00000021640 |
Gene Name |
NLR family, apoptosis inhibitory protein 1 |
Synonyms |
Naip, Birc1a, D13Lsd1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9617 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100544272-100589372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100569821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 271
(N271S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022142]
[ENSMUST00000221727]
[ENSMUST00000221943]
[ENSMUST00000222155]
|
AlphaFold |
Q9QWK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022142
AA Change: N271S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000022142 Gene: ENSMUSG00000021640 AA Change: N271S
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
AA Change: N271S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221943
AA Change: N271S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222155
AA Change: N271S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
C |
T |
3: 68,777,402 (GRCm39) |
P121L |
probably damaging |
Het |
4930442H23Rik |
C |
T |
10: 81,018,976 (GRCm39) |
V16I |
unknown |
Het |
4930444P10Rik |
T |
C |
1: 16,139,051 (GRCm39) |
M97V |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,797,353 (GRCm39) |
|
probably null |
Het |
Abhd5 |
T |
C |
9: 122,197,035 (GRCm39) |
I74T |
probably benign |
Het |
Ankle2 |
T |
A |
5: 110,399,409 (GRCm39) |
F590I |
probably damaging |
Het |
C2cd6 |
T |
C |
1: 59,097,848 (GRCm39) |
S414G |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Cep295nl |
G |
T |
11: 118,224,000 (GRCm39) |
H281Q |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,639,164 (GRCm39) |
E670G |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,090,718 (GRCm39) |
V90E |
possibly damaging |
Het |
Cnksr3 |
A |
C |
10: 7,079,021 (GRCm39) |
|
probably null |
Het |
Cntrl |
T |
A |
2: 35,035,077 (GRCm39) |
F901L |
probably benign |
Het |
Coch |
T |
A |
12: 51,645,034 (GRCm39) |
M196K |
probably damaging |
Het |
Crygd |
T |
C |
1: 65,102,369 (GRCm39) |
N34S |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,962 (GRCm39) |
I511N |
probably benign |
Het |
Dhx30 |
C |
T |
9: 109,926,186 (GRCm39) |
A142T |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,087,284 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 49,998,228 (GRCm39) |
D776G |
probably damaging |
Het |
Dnm3 |
C |
T |
1: 162,149,354 (GRCm39) |
G197D |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,824,190 (GRCm39) |
H91R |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,596,258 (GRCm39) |
M844V |
probably damaging |
Het |
Erc1 |
T |
C |
6: 119,773,902 (GRCm39) |
E351G |
probably benign |
Het |
Etfbkmt |
G |
A |
6: 149,045,744 (GRCm39) |
G33R |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,738 (GRCm39) |
I503T |
probably benign |
Het |
Gm6370 |
A |
T |
5: 146,429,993 (GRCm39) |
Q143L |
probably benign |
Het |
Gnas |
T |
C |
2: 174,141,988 (GRCm39) |
V719A |
possibly damaging |
Het |
H13 |
C |
A |
2: 152,530,873 (GRCm39) |
D219E |
probably damaging |
Het |
Hhatl |
G |
A |
9: 121,618,191 (GRCm39) |
T188I |
possibly damaging |
Het |
Ifi27l2b |
C |
T |
12: 103,422,683 (GRCm39) |
A45T |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,103,874 (GRCm39) |
C585R |
possibly damaging |
Het |
Limk2 |
A |
G |
11: 3,297,715 (GRCm39) |
S473P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,267,169 (GRCm39) |
G1620S |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,346,490 (GRCm39) |
T271A |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,476,871 (GRCm39) |
S759P |
possibly damaging |
Het |
Mybphl |
G |
T |
3: 108,282,952 (GRCm39) |
V247F |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,682,815 (GRCm39) |
V1120D |
probably benign |
Het |
Napepld |
C |
T |
5: 21,875,561 (GRCm39) |
V328I |
probably damaging |
Het |
Nucb1 |
A |
G |
7: 45,148,159 (GRCm39) |
V218A |
probably benign |
Het |
Nup107 |
A |
T |
10: 117,593,238 (GRCm39) |
D813E |
probably benign |
Het |
Or14j3 |
T |
A |
17: 37,901,053 (GRCm39) |
K64* |
probably null |
Het |
Or5g29 |
T |
A |
2: 85,421,279 (GRCm39) |
Y132N |
probably damaging |
Het |
Or6c35 |
A |
T |
10: 129,168,794 (GRCm39) |
T15S |
probably damaging |
Het |
Or8g52 |
A |
G |
9: 39,630,678 (GRCm39) |
S52G |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,602 (GRCm39) |
I289T |
probably benign |
Het |
Parg |
A |
G |
14: 31,960,569 (GRCm39) |
I600V |
probably benign |
Het |
Patj |
T |
C |
4: 98,393,991 (GRCm39) |
F975L |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,218 (GRCm39) |
T3A |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,248,108 (GRCm39) |
E464G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,800,341 (GRCm39) |
V3034D |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,447,944 (GRCm39) |
E869G |
probably damaging |
Het |
Plek |
T |
A |
11: 16,945,311 (GRCm39) |
L29F |
possibly damaging |
Het |
Prelp |
A |
G |
1: 133,842,416 (GRCm39) |
L243P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,621,930 (GRCm39) |
D231E |
probably benign |
Het |
Riok1 |
A |
G |
13: 38,244,016 (GRCm39) |
E514G |
probably benign |
Het |
Rmdn2 |
T |
C |
17: 79,928,790 (GRCm39) |
M14T |
probably benign |
Het |
Rorb |
G |
A |
19: 18,939,499 (GRCm39) |
Q228* |
probably null |
Het |
Scmh1 |
T |
A |
4: 120,340,827 (GRCm39) |
M171K |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,392,809 (GRCm39) |
L261P |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,971,652 (GRCm39) |
N263I |
probably benign |
Het |
Slc11a1 |
G |
T |
1: 74,419,041 (GRCm39) |
A162S |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,384,685 (GRCm39) |
V305A |
probably damaging |
Het |
Snph |
A |
T |
2: 151,435,422 (GRCm39) |
V502E |
probably damaging |
Het |
Sost |
G |
T |
11: 101,854,892 (GRCm39) |
A139E |
possibly damaging |
Het |
Srp54a |
A |
T |
12: 55,136,061 (GRCm39) |
E25D |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,636,940 (GRCm39) |
C213S |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,807,180 (GRCm39) |
Y4* |
probably null |
Het |
Tmem63c |
T |
G |
12: 87,103,361 (GRCm39) |
I45S |
probably benign |
Het |
Ttbk1 |
C |
T |
17: 46,757,998 (GRCm39) |
G879S |
probably damaging |
Het |
Ugt1a7c |
A |
G |
1: 88,022,952 (GRCm39) |
H37R |
probably damaging |
Het |
Vmn1r236 |
T |
C |
17: 21,507,053 (GRCm39) |
L57P |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,192,453 (GRCm39) |
E675V |
unknown |
Het |
Wnt10b |
T |
C |
15: 98,674,609 (GRCm39) |
T43A |
probably damaging |
Het |
Wnt8a |
C |
A |
18: 34,680,163 (GRCm39) |
T176K |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,080,452 (GRCm39) |
C161S |
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 |
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 |
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'- GAAGAATCACTTGTCTCTCCCC -3'
(R):5'- ACCTACAGGAGCACATGCATG -3'
Sequencing Primer
(F):5'- GATGCTCAGCCTGAAAGCACTG -3'
(R):5'- GTGCAAGCACACAGACACAC -3'
|
Posted On |
2022-10-06 |