Incidental Mutation 'R1476:Naip1'
ID |
164093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naip1
|
Ensembl Gene |
ENSMUSG00000021640 |
Gene Name |
NLR family, apoptosis inhibitory protein 1 |
Synonyms |
Naip, Birc1a, D13Lsd1 |
MMRRC Submission |
039529-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1476 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
100544272-100589372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100563378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 596
(S596G)
|
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: S596G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022142 Gene: ENSMUSG00000021640 AA Change: S596G
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: S596G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
95% (80/84) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,528 (GRCm39) |
|
probably benign |
Het |
A730015C16Rik |
G |
A |
4: 108,705,205 (GRCm39) |
V40M |
probably damaging |
Het |
Abcg2 |
A |
G |
6: 58,655,322 (GRCm39) |
D419G |
probably benign |
Het |
Adamts17 |
A |
C |
7: 66,725,091 (GRCm39) |
E777A |
probably damaging |
Het |
Ak1 |
A |
G |
2: 32,523,478 (GRCm39) |
K166R |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,293,300 (GRCm39) |
K711R |
probably damaging |
Het |
Ate1 |
A |
T |
7: 130,020,301 (GRCm39) |
|
probably null |
Het |
Atp5f1a |
A |
G |
18: 77,869,625 (GRCm39) |
H519R |
probably benign |
Het |
Best1 |
G |
T |
19: 9,967,853 (GRCm39) |
Y284* |
probably null |
Het |
C2cd6 |
A |
G |
1: 59,115,887 (GRCm39) |
|
probably benign |
Het |
Casz1 |
G |
T |
4: 149,030,628 (GRCm39) |
V1216L |
probably benign |
Het |
Cdc42bpg |
A |
G |
19: 6,363,812 (GRCm39) |
D493G |
probably damaging |
Het |
Ces2f |
A |
G |
8: 105,679,134 (GRCm39) |
D317G |
possibly damaging |
Het |
Chst15 |
A |
T |
7: 131,872,002 (GRCm39) |
M93K |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 115,828,750 (GRCm39) |
L58P |
probably damaging |
Het |
Crip3 |
T |
C |
17: 46,741,702 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,380,794 (GRCm39) |
E2117K |
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,478,564 (GRCm39) |
D212G |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,434,220 (GRCm39) |
K546R |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,480,931 (GRCm39) |
I308T |
probably benign |
Het |
Cxcl9 |
T |
A |
5: 92,472,972 (GRCm39) |
D75V |
probably damaging |
Het |
Dcdc5 |
C |
T |
2: 106,188,977 (GRCm39) |
|
noncoding transcript |
Het |
Defa30 |
C |
A |
8: 21,624,752 (GRCm39) |
T25K |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,967,672 (GRCm39) |
H239Q |
possibly damaging |
Het |
Dpp4 |
A |
G |
2: 62,178,245 (GRCm39) |
V629A |
possibly damaging |
Het |
Fam83a |
T |
C |
15: 57,873,341 (GRCm39) |
M390T |
probably benign |
Het |
Fem1c |
A |
G |
18: 46,657,552 (GRCm39) |
L54P |
probably damaging |
Het |
Fntb |
T |
A |
12: 76,957,007 (GRCm39) |
M282K |
probably benign |
Het |
Galnt2l |
A |
G |
8: 122,996,323 (GRCm39) |
|
probably benign |
Het |
Gm11099 |
G |
A |
2: 58,749,482 (GRCm39) |
|
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,980,705 (GRCm39) |
S602P |
probably benign |
Het |
Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
Gm7853 |
C |
A |
14: 35,811,540 (GRCm39) |
|
noncoding transcript |
Het |
Gsta2 |
A |
T |
9: 78,249,147 (GRCm39) |
C18S |
probably benign |
Het |
H1f8 |
T |
C |
6: 115,924,701 (GRCm39) |
V69A |
possibly damaging |
Het |
Hecw1 |
T |
C |
13: 14,480,671 (GRCm39) |
E465G |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,415,548 (GRCm39) |
D4841G |
probably damaging |
Het |
Hus1b |
A |
G |
13: 31,130,984 (GRCm39) |
V225A |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,693,387 (GRCm39) |
M137L |
probably benign |
Het |
Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mga |
T |
A |
2: 119,772,156 (GRCm39) |
V1672E |
probably damaging |
Het |
Mios |
T |
C |
6: 8,234,237 (GRCm39) |
S803P |
probably benign |
Het |
Mrtfa |
T |
C |
15: 80,902,409 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
T |
3: 153,569,021 (GRCm39) |
Y851N |
probably damaging |
Het |
Mybl1 |
A |
C |
1: 9,742,886 (GRCm39) |
|
probably null |
Het |
Myo5c |
A |
G |
9: 75,183,221 (GRCm39) |
Y865C |
probably damaging |
Het |
Nek5 |
G |
T |
8: 22,586,747 (GRCm39) |
Q355K |
possibly damaging |
Het |
Nphp3 |
G |
T |
9: 103,903,126 (GRCm39) |
R701L |
possibly damaging |
Het |
Or52n2 |
A |
T |
7: 104,542,444 (GRCm39) |
Y130* |
probably null |
Het |
Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
Or5m10 |
T |
A |
2: 85,717,592 (GRCm39) |
Y149* |
probably null |
Het |
Or5t9 |
T |
C |
2: 86,659,542 (GRCm39) |
S149P |
probably benign |
Het |
Or9g4 |
T |
A |
2: 85,505,262 (GRCm39) |
T78S |
possibly damaging |
Het |
Palm |
A |
G |
10: 79,651,021 (GRCm39) |
N149D |
possibly damaging |
Het |
Pot1b |
T |
C |
17: 55,960,451 (GRCm39) |
I626M |
possibly damaging |
Het |
Ptprt |
T |
A |
2: 161,769,404 (GRCm39) |
D487V |
probably damaging |
Het |
Qpct |
A |
G |
17: 79,378,201 (GRCm39) |
I124V |
probably benign |
Het |
Rbm12b1 |
T |
A |
4: 12,145,817 (GRCm39) |
D596E |
possibly damaging |
Het |
Rnf157 |
A |
G |
11: 116,245,585 (GRCm39) |
C277R |
probably damaging |
Het |
Rnf169 |
A |
G |
7: 99,574,535 (GRCm39) |
S687P |
possibly damaging |
Het |
Sfxn1 |
T |
A |
13: 54,246,469 (GRCm39) |
|
probably null |
Het |
Slc6a21 |
T |
C |
7: 44,922,052 (GRCm39) |
V649A |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,577,126 (GRCm39) |
T1120S |
probably damaging |
Het |
Spem2 |
A |
T |
11: 69,708,896 (GRCm39) |
M58K |
probably benign |
Het |
Sprr2k |
T |
A |
3: 92,340,703 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,440,334 (GRCm39) |
|
probably null |
Het |
Sv2b |
A |
T |
7: 74,769,791 (GRCm39) |
F584I |
possibly damaging |
Het |
Tkfc |
A |
T |
19: 10,572,690 (GRCm39) |
M317K |
probably null |
Het |
Tnni3k |
C |
T |
3: 154,735,942 (GRCm39) |
G134S |
probably benign |
Het |
Ttn |
C |
T |
2: 76,570,124 (GRCm39) |
R26923H |
probably damaging |
Het |
Tuba3b |
T |
C |
6: 145,564,179 (GRCm39) |
V75A |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 103,149,784 (GRCm39) |
L2626P |
probably damaging |
Het |
Usp24 |
A |
T |
4: 106,219,130 (GRCm39) |
I491F |
probably damaging |
Het |
V1ra8 |
A |
T |
6: 90,180,132 (GRCm39) |
I112F |
probably damaging |
Het |
Vmn1r29 |
T |
G |
6: 58,284,663 (GRCm39) |
F128V |
probably benign |
Het |
Wdr87-ps |
A |
G |
7: 29,234,315 (GRCm39) |
|
noncoding transcript |
Het |
Zfp157 |
T |
A |
5: 138,453,357 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCAGTCAGTACATACTGCTGCC -3'
(R):5'- TAGTTCCATCACACCAGACCAGGG -3'
Sequencing Primer
(F):5'- TACTGCTGCCACGAAGAG -3'
(R):5'- TGTCTGAGCAGCATCATCCAG -3'
|
Posted On |
2014-03-28 |