Incidental Mutation 'R5806:Naip1'
ID |
448540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naip1
|
Ensembl Gene |
ENSMUSG00000021640 |
Gene Name |
NLR family, apoptosis inhibitory protein 1 |
Synonyms |
Naip, Birc1a, D13Lsd1 |
MMRRC Submission |
043392-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5806 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100544272-100589372 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
C to T
at 100581243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022142]
[ENSMUST00000221727]
[ENSMUST00000221943]
[ENSMUST00000222155]
|
AlphaFold |
Q9QWK5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022142
AA Change: M1I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022142 Gene: ENSMUSG00000021640 AA Change: M1I
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
AA Change: M1I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221943
AA Change: M1I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222155
AA Change: M1I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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 |
A930011G23Rik |
A |
G |
5: 99,388,731 (GRCm39) |
M216T |
probably benign |
Het |
Abhd4 |
A |
G |
14: 54,499,147 (GRCm39) |
N36D |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,405,005 (GRCm39) |
|
probably null |
Het |
Btd |
A |
G |
14: 31,389,469 (GRCm39) |
T397A |
probably benign |
Het |
Ccbe1 |
T |
A |
18: 66,209,426 (GRCm39) |
K205* |
probably null |
Het |
Clspn |
A |
G |
4: 126,479,899 (GRCm39) |
K1081E |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,445 (GRCm39) |
S1548P |
possibly damaging |
Het |
Coq8b |
T |
A |
7: 26,950,050 (GRCm39) |
Y376* |
probably null |
Het |
Cpxm1 |
C |
A |
2: 130,239,393 (GRCm39) |
A12S |
probably damaging |
Het |
Cttn |
T |
C |
7: 144,015,005 (GRCm39) |
T68A |
probably damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,728,504 (GRCm39) |
|
probably null |
Het |
Ddx46 |
A |
G |
13: 55,811,150 (GRCm39) |
Q582R |
possibly damaging |
Het |
Ddx55 |
A |
G |
5: 124,697,262 (GRCm39) |
E208G |
probably damaging |
Het |
Dnaaf4 |
T |
C |
9: 72,869,336 (GRCm39) |
L182P |
probably benign |
Het |
Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,903,420 (GRCm39) |
L393* |
probably null |
Het |
Ern1 |
G |
C |
11: 106,289,531 (GRCm39) |
S924C |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,098,596 (GRCm39) |
I1249T |
probably damaging |
Het |
Fgfbp3 |
T |
G |
19: 36,895,949 (GRCm39) |
D223A |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,936,794 (GRCm39) |
L313P |
probably damaging |
Het |
Galnt17 |
A |
G |
5: 130,906,657 (GRCm39) |
Y504H |
probably damaging |
Het |
Gjb5 |
A |
G |
4: 127,249,718 (GRCm39) |
I142T |
probably benign |
Het |
Gvin1 |
T |
C |
7: 105,757,413 (GRCm39) |
D2352G |
probably benign |
Het |
H2-M2 |
G |
A |
17: 37,792,617 (GRCm39) |
T218I |
probably damaging |
Het |
Hal |
A |
G |
10: 93,326,846 (GRCm39) |
T161A |
probably damaging |
Het |
Helb |
G |
A |
10: 119,928,424 (GRCm39) |
R806C |
probably damaging |
Het |
Ift80 |
T |
A |
3: 68,857,809 (GRCm39) |
I279F |
probably benign |
Het |
Itln1 |
A |
T |
1: 171,358,720 (GRCm39) |
I149N |
possibly damaging |
Het |
Kcnt2 |
A |
C |
1: 140,437,234 (GRCm39) |
T556P |
probably damaging |
Het |
Klk1b22 |
A |
T |
7: 43,765,301 (GRCm39) |
E84D |
possibly damaging |
Het |
Krt78 |
A |
G |
15: 101,858,937 (GRCm39) |
L305P |
probably damaging |
Het |
Lzts2 |
T |
C |
19: 45,014,806 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,265,680 (GRCm39) |
L6843P |
probably damaging |
Het |
Magi2 |
C |
A |
5: 20,856,202 (GRCm39) |
H841Q |
probably benign |
Het |
Mdm1 |
A |
T |
10: 118,002,563 (GRCm39) |
H628L |
probably benign |
Het |
Med23 |
A |
G |
10: 24,783,119 (GRCm39) |
D734G |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,354,849 (GRCm39) |
W9R |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,306,334 (GRCm39) |
H576R |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,416,572 (GRCm39) |
T3173A |
possibly damaging |
Het |
Mx1 |
A |
T |
16: 97,255,351 (GRCm39) |
V234E |
possibly damaging |
Het |
Myh2 |
T |
C |
11: 67,072,141 (GRCm39) |
L623P |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,158,117 (GRCm39) |
V337E |
probably damaging |
Het |
Nit2 |
G |
A |
16: 56,982,056 (GRCm39) |
T64M |
possibly damaging |
Het |
Or1e34 |
A |
T |
11: 73,778,373 (GRCm39) |
M275K |
probably damaging |
Het |
Or4c103 |
T |
C |
2: 88,513,495 (GRCm39) |
N194D |
probably damaging |
Het |
Or6e1 |
A |
T |
14: 54,520,264 (GRCm39) |
F29L |
probably benign |
Het |
Otub2 |
A |
G |
12: 103,369,656 (GRCm39) |
E245G |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,178,548 (GRCm39) |
K524R |
probably damaging |
Het |
Pih1d2 |
C |
T |
9: 50,529,750 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
T |
A |
12: 32,254,952 (GRCm39) |
D345V |
possibly damaging |
Het |
Plekhg4 |
A |
T |
8: 106,105,542 (GRCm39) |
Q669L |
possibly damaging |
Het |
Prlr |
A |
T |
15: 10,319,290 (GRCm39) |
Y73F |
probably damaging |
Het |
Ptk6 |
T |
C |
2: 180,841,523 (GRCm39) |
I129V |
possibly damaging |
Het |
Ranbp3 |
A |
T |
17: 57,017,717 (GRCm39) |
T458S |
probably benign |
Het |
Ren1 |
T |
A |
1: 133,283,249 (GRCm39) |
Y128* |
probably null |
Het |
Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
Rnf222 |
T |
C |
11: 68,783,789 (GRCm39) |
S119P |
possibly damaging |
Het |
Rrbp1 |
T |
A |
2: 143,805,251 (GRCm39) |
E1007V |
probably benign |
Het |
Septin11 |
G |
A |
5: 93,315,437 (GRCm39) |
E389K |
probably benign |
Het |
Setbp1 |
A |
G |
18: 78,899,697 (GRCm39) |
|
probably null |
Het |
Slc25a54 |
T |
C |
3: 108,987,894 (GRCm39) |
S12P |
probably benign |
Het |
Slc26a5 |
A |
C |
5: 22,028,561 (GRCm39) |
F336V |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,198,114 (GRCm39) |
T254A |
probably damaging |
Het |
Smcr8 |
G |
T |
11: 60,671,208 (GRCm39) |
|
probably null |
Het |
Srcap |
A |
T |
7: 127,158,335 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
T |
5: 137,296,179 (GRCm39) |
I509N |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,108,243 (GRCm39) |
H99Q |
probably benign |
Het |
Tmem40 |
A |
G |
6: 115,713,373 (GRCm39) |
V76A |
probably benign |
Het |
Tnni3k |
A |
T |
3: 154,533,248 (GRCm39) |
S740T |
possibly damaging |
Het |
Top3a |
A |
G |
11: 60,667,746 (GRCm39) |
|
probably null |
Het |
Tpd52l2 |
C |
A |
2: 181,144,680 (GRCm39) |
T109K |
probably damaging |
Het |
Tsnaxip1 |
C |
A |
8: 106,564,128 (GRCm39) |
D109E |
possibly damaging |
Het |
Uty |
G |
T |
Y: 1,170,921 (GRCm39) |
D313E |
probably damaging |
Het |
Zfp143 |
A |
T |
7: 109,685,442 (GRCm39) |
K423* |
probably null |
Het |
Zfp407 |
C |
T |
18: 84,576,739 (GRCm39) |
G1458D |
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 |
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'- GTTTGGCTTCACTGCGCATC -3'
(R):5'- TCGAGTCAGAACATGAAACCCG -3'
Sequencing Primer
(F):5'- CTGCGCATCTGTGAGTTAAAACC -3'
(R):5'- CATGAGTGTGTCCATGTAGTAGTCAG -3'
|
Posted On |
2016-12-15 |