Incidental Mutation 'R9723:Il1rap'
ID |
730954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il1rap
|
Ensembl Gene |
ENSMUSG00000022514 |
Gene Name |
interleukin 1 receptor accessory protein |
Synonyms |
IL-1RAcP, 6430709H04Rik, IL-1R AcP |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9723 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 26442907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
AlphaFold |
Q61730 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023156
AA Change: M1K
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
32 |
132 |
1.21e-2 |
SMART |
IG
|
145 |
232 |
4.04e0 |
SMART |
IG
|
251 |
350 |
1.46e-5 |
SMART |
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
TIR
|
404 |
549 |
5.29e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000096129
AA Change: M1K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
32 |
132 |
1.21e-2 |
SMART |
IG
|
145 |
232 |
4.04e0 |
SMART |
IG
|
251 |
350 |
1.46e-5 |
SMART |
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
TIR
|
404 |
547 |
1.38e-25 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166294
AA Change: M1K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
32 |
132 |
1.21e-2 |
SMART |
IG
|
145 |
232 |
4.04e0 |
SMART |
IG
|
251 |
350 |
1.46e-5 |
SMART |
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
TIR
|
404 |
547 |
1.38e-25 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174171
AA Change: M1K
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133904 Gene: ENSMUSG00000022514 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
32 |
132 |
1.21e-2 |
SMART |
IG
|
145 |
232 |
4.04e0 |
SMART |
Blast:IG
|
251 |
312 |
1e-28 |
BLAST |
low complexity region
|
316 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174202
AA Change: M1K
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: M1K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
32 |
132 |
1.21e-2 |
SMART |
IG
|
145 |
232 |
4.04e0 |
SMART |
IG
|
251 |
350 |
1.46e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009] PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
G |
A |
1: 75,156,366 (GRCm39) |
R133W |
probably benign |
Het |
Abcc3 |
T |
A |
11: 94,250,725 (GRCm39) |
T877S |
probably benign |
Het |
Alb |
A |
T |
5: 90,611,962 (GRCm39) |
K130N |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,385,283 (GRCm39) |
S560N |
probably benign |
Het |
Angel2 |
T |
G |
1: 190,671,342 (GRCm39) |
L234R |
probably damaging |
Het |
Catip |
C |
T |
1: 74,403,745 (GRCm39) |
T154I |
probably benign |
Het |
Ccdc163 |
C |
T |
4: 116,569,595 (GRCm39) |
Q102* |
probably null |
Het |
Cep250 |
A |
G |
2: 155,823,337 (GRCm39) |
E997G |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,677,463 (GRCm39) |
I183T |
possibly damaging |
Het |
Commd8 |
A |
G |
5: 72,318,309 (GRCm39) |
V158A |
possibly damaging |
Het |
Cyp2b9 |
C |
T |
7: 25,909,596 (GRCm39) |
Q455* |
probably null |
Het |
D5Ertd579e |
G |
T |
5: 36,772,284 (GRCm39) |
H704N |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 30,987,946 (GRCm39) |
T3491A |
probably damaging |
Het |
Dnai1 |
T |
G |
4: 41,603,302 (GRCm39) |
F195C |
possibly damaging |
Het |
Dock7 |
A |
G |
4: 98,908,270 (GRCm39) |
V620A |
|
Het |
Dock7 |
A |
T |
4: 98,960,660 (GRCm39) |
D289E |
|
Het |
Dpys |
T |
A |
15: 39,691,509 (GRCm39) |
E271V |
probably damaging |
Het |
Elovl3 |
T |
C |
19: 46,123,155 (GRCm39) |
Y244H |
probably damaging |
Het |
Enam |
G |
A |
5: 88,652,241 (GRCm39) |
G1250E |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,229,170 (GRCm39) |
T1774M |
probably benign |
Het |
Fasl |
T |
C |
1: 161,615,535 (GRCm39) |
K107R |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,202,119 (GRCm39) |
C1251* |
probably null |
Het |
Fn1 |
G |
T |
1: 71,663,369 (GRCm39) |
Q1040K |
possibly damaging |
Het |
Frem3 |
C |
T |
8: 81,341,352 (GRCm39) |
S1215L |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,214,388 (GRCm39) |
D135E |
possibly damaging |
Het |
Gabpb1 |
C |
T |
2: 126,488,648 (GRCm39) |
V240I |
probably benign |
Het |
Galnt12 |
C |
G |
4: 47,119,541 (GRCm39) |
Y452* |
probably null |
Het |
Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,750,448 (GRCm39) |
P541L |
unknown |
Het |
Gm12789 |
T |
A |
4: 101,846,083 (GRCm39) |
W115R |
possibly damaging |
Het |
Gm8126 |
T |
C |
14: 43,119,141 (GRCm39) |
|
probably null |
Het |
Gpr179 |
A |
T |
11: 97,225,546 (GRCm39) |
L2203H |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,879,906 (GRCm39) |
K20E |
probably damaging |
Het |
Hapln3 |
A |
T |
7: 78,771,736 (GRCm39) |
V51E |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,626,257 (GRCm39) |
*464W |
probably null |
Het |
Il1r1 |
A |
C |
1: 40,332,721 (GRCm39) |
I137L |
probably benign |
Het |
Lgi2 |
A |
G |
5: 52,695,843 (GRCm39) |
L372P |
probably damaging |
Het |
Lrrc46 |
A |
G |
11: 96,925,773 (GRCm39) |
S230P |
possibly damaging |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mapk8ip3 |
C |
A |
17: 25,132,585 (GRCm39) |
W339L |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,969,008 (GRCm39) |
M459K |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,775,512 (GRCm39) |
D659E |
probably benign |
Het |
Npat |
T |
A |
9: 53,473,746 (GRCm39) |
S513T |
probably benign |
Het |
Npat |
T |
G |
9: 53,481,861 (GRCm39) |
L1190V |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,343,649 (GRCm39) |
I448T |
probably benign |
Het |
Omd |
T |
C |
13: 49,743,838 (GRCm39) |
F296S |
probably damaging |
Het |
Oprm1 |
A |
G |
10: 6,788,514 (GRCm39) |
N423S |
possibly damaging |
Het |
Oxtr |
G |
A |
6: 112,466,304 (GRCm39) |
T152I |
probably benign |
Het |
Pak2 |
A |
T |
16: 31,852,650 (GRCm39) |
V297E |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
Pet100 |
G |
A |
8: 3,672,374 (GRCm39) |
M20I |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,306,875 (GRCm39) |
S505P |
probably benign |
Het |
Plin5 |
G |
A |
17: 56,423,290 (GRCm39) |
A90V |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,551,026 (GRCm39) |
T526A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,058,700 (GRCm39) |
H84R |
probably damaging |
Het |
Pramel7 |
C |
T |
2: 87,320,019 (GRCm39) |
V425I |
possibly damaging |
Het |
Rad51d |
A |
T |
11: 82,781,162 (GRCm39) |
|
probably null |
Het |
Rbp3 |
T |
C |
14: 33,677,474 (GRCm39) |
M474T |
possibly damaging |
Het |
Rcan3 |
A |
G |
4: 135,152,680 (GRCm39) |
S14P |
probably benign |
Het |
Rps6ka4 |
A |
T |
19: 6,816,663 (GRCm39) |
V140E |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,101,464 (GRCm39) |
S692L |
possibly damaging |
Het |
Sgk1 |
A |
T |
10: 21,872,239 (GRCm39) |
I272F |
probably damaging |
Het |
Skor1 |
A |
G |
9: 63,053,714 (GRCm39) |
V85A |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,059,827 (GRCm39) |
D909V |
probably damaging |
Het |
Slc25a18 |
C |
A |
6: 120,770,489 (GRCm39) |
A283E |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,772,103 (GRCm39) |
L411P |
possibly damaging |
Het |
Spata13 |
T |
C |
14: 60,928,498 (GRCm39) |
S19P |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,885,848 (GRCm39) |
H42L |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,298,103 (GRCm39) |
D698E |
probably benign |
Het |
Syngap1 |
G |
A |
17: 27,189,510 (GRCm39) |
R1305H |
possibly damaging |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Trappc9 |
A |
G |
15: 72,461,963 (GRCm39) |
Y1101H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,625,061 (GRCm39) |
K535E |
probably damaging |
Het |
Usp14 |
G |
T |
18: 10,009,993 (GRCm39) |
Q185K |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,935,536 (GRCm39) |
Y413* |
probably null |
Het |
Uvssa |
G |
A |
5: 33,547,382 (GRCm39) |
|
probably null |
Het |
Vmn1r177 |
A |
T |
7: 23,565,774 (GRCm39) |
L34Q |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,151,671 (GRCm39) |
L277P |
probably damaging |
Het |
Zc2hc1b |
T |
A |
10: 13,044,497 (GRCm39) |
L55F |
probably damaging |
Het |
Zfp345 |
A |
C |
2: 150,314,189 (GRCm39) |
Y449* |
probably null |
Het |
|
Other mutations in Il1rap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Il1rap
|
APN |
16 |
26,541,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL00976:Il1rap
|
APN |
16 |
26,517,589 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01075:Il1rap
|
APN |
16 |
26,498,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01665:Il1rap
|
APN |
16 |
26,541,463 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01962:Il1rap
|
APN |
16 |
26,529,318 (GRCm39) |
nonsense |
probably null |
|
IGL02101:Il1rap
|
APN |
16 |
26,442,932 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02411:Il1rap
|
APN |
16 |
26,529,366 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03132:Il1rap
|
APN |
16 |
26,498,869 (GRCm39) |
missense |
probably damaging |
1.00 |
bacchus
|
UTSW |
16 |
26,529,382 (GRCm39) |
critical splice donor site |
probably null |
|
I1329:Il1rap
|
UTSW |
16 |
26,511,600 (GRCm39) |
missense |
probably benign |
0.07 |
LCD18:Il1rap
|
UTSW |
16 |
26,450,343 (GRCm39) |
intron |
probably benign |
|
PIT1430001:Il1rap
|
UTSW |
16 |
26,529,343 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0302:Il1rap
|
UTSW |
16 |
26,511,544 (GRCm39) |
missense |
probably benign |
0.02 |
R0454:Il1rap
|
UTSW |
16 |
26,517,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Il1rap
|
UTSW |
16 |
26,511,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Il1rap
|
UTSW |
16 |
26,519,855 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0765:Il1rap
|
UTSW |
16 |
26,529,382 (GRCm39) |
critical splice donor site |
probably null |
|
R1552:Il1rap
|
UTSW |
16 |
26,541,184 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1801:Il1rap
|
UTSW |
16 |
26,517,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Il1rap
|
UTSW |
16 |
26,541,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R1942:Il1rap
|
UTSW |
16 |
26,541,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R1996:Il1rap
|
UTSW |
16 |
26,541,243 (GRCm39) |
missense |
probably benign |
0.06 |
R2118:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R3104:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
R3105:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
R3106:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
R3891:Il1rap
|
UTSW |
16 |
26,495,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R4133:Il1rap
|
UTSW |
16 |
26,541,636 (GRCm39) |
missense |
probably benign |
0.34 |
R4409:Il1rap
|
UTSW |
16 |
26,531,015 (GRCm39) |
splice site |
probably null |
|
R4610:Il1rap
|
UTSW |
16 |
26,533,526 (GRCm39) |
missense |
probably benign |
0.11 |
R4755:Il1rap
|
UTSW |
16 |
26,541,532 (GRCm39) |
missense |
probably benign |
0.20 |
R4776:Il1rap
|
UTSW |
16 |
26,511,549 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4793:Il1rap
|
UTSW |
16 |
26,513,984 (GRCm39) |
missense |
probably benign |
0.09 |
R4811:Il1rap
|
UTSW |
16 |
26,519,988 (GRCm39) |
critical splice donor site |
probably null |
|
R4834:Il1rap
|
UTSW |
16 |
26,495,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Il1rap
|
UTSW |
16 |
26,442,949 (GRCm39) |
missense |
probably benign |
0.01 |
R5744:Il1rap
|
UTSW |
16 |
26,498,974 (GRCm39) |
missense |
probably benign |
0.01 |
R6108:Il1rap
|
UTSW |
16 |
26,541,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Il1rap
|
UTSW |
16 |
26,530,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R6233:Il1rap
|
UTSW |
16 |
26,529,256 (GRCm39) |
missense |
probably benign |
0.24 |
R6246:Il1rap
|
UTSW |
16 |
26,533,631 (GRCm39) |
missense |
probably benign |
|
R6249:Il1rap
|
UTSW |
16 |
26,511,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6254:Il1rap
|
UTSW |
16 |
26,514,020 (GRCm39) |
missense |
probably benign |
|
R6748:Il1rap
|
UTSW |
16 |
26,541,106 (GRCm39) |
missense |
probably benign |
0.02 |
R7151:Il1rap
|
UTSW |
16 |
26,530,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Il1rap
|
UTSW |
16 |
26,541,658 (GRCm39) |
missense |
probably benign |
|
R7818:Il1rap
|
UTSW |
16 |
26,517,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Il1rap
|
UTSW |
16 |
26,541,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7863:Il1rap
|
UTSW |
16 |
26,495,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Il1rap
|
UTSW |
16 |
26,520,001 (GRCm39) |
missense |
probably benign |
|
R8559:Il1rap
|
UTSW |
16 |
26,530,884 (GRCm39) |
missense |
probably benign |
0.29 |
R8934:Il1rap
|
UTSW |
16 |
26,495,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R8986:Il1rap
|
UTSW |
16 |
26,533,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R9261:Il1rap
|
UTSW |
16 |
26,541,724 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9286:Il1rap
|
UTSW |
16 |
26,517,604 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9326:Il1rap
|
UTSW |
16 |
26,495,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R9408:Il1rap
|
UTSW |
16 |
26,533,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9493:Il1rap
|
UTSW |
16 |
26,541,702 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Il1rap
|
UTSW |
16 |
26,519,897 (GRCm39) |
missense |
probably benign |
0.20 |
X0028:Il1rap
|
UTSW |
16 |
26,495,714 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Il1rap
|
UTSW |
16 |
26,541,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCAGGTCAGAAAATCCAG -3'
(R):5'- CAGACACTTGATTCTATGCAACTAC -3'
Sequencing Primer
(F):5'- GCCAGACCACTTTTTAGTCAAGGG -3'
(R):5'- CAGAATTCTGTGGAACAAAACCAAC -3'
|
Posted On |
2022-10-06 |