Incidental Mutation 'IGL00952:Itgb2l'
ID |
29174 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itgb2l
|
Ensembl Gene |
ENSMUSG00000000157 |
Gene Name |
integrin beta 2-like |
Synonyms |
pactolus, 5033406G21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL00952
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96227950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 518
(G518S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113794]
[ENSMUST00000113795]
[ENSMUST00000131567]
[ENSMUST00000136292]
|
AlphaFold |
Q3UV74 |
PDB Structure |
PACTOLUS I-DOMAIN: FUNCTIONAL SWITCHING OF THE ROSSMANN FOLD [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000161
AA Change: G518S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000000161 Gene: ENSMUSG00000000157 AA Change: G518S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113773
AA Change: G518S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109403 Gene: ENSMUSG00000000157 AA Change: G518S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113794
|
SMART Domains |
Protein: ENSMUSP00000109425 Gene: ENSMUSG00000000159
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
31 |
127 |
9.63e-6 |
SMART |
IG
|
134 |
221 |
2.64e0 |
SMART |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113795
|
SMART Domains |
Protein: ENSMUSP00000109426 Gene: ENSMUSG00000000159
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
31 |
125 |
4.74e-5 |
SMART |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131567
AA Change: G518S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114497 Gene: ENSMUSG00000000157 AA Change: G518S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136292
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display normal leukocyte development and normal neutrophil recruitment to inflamed tissues. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
Coro6 |
A |
T |
11: 77,359,291 (GRCm39) |
D288V |
probably damaging |
Het |
Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,596,977 (GRCm39) |
V681A |
probably damaging |
Het |
Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
Rsph14 |
T |
C |
10: 74,865,601 (GRCm39) |
D112G |
probably benign |
Het |
Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
Tas1r2 |
T |
C |
4: 139,382,563 (GRCm39) |
M67T |
probably benign |
Het |
Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
Ttc16 |
T |
C |
2: 32,660,259 (GRCm39) |
D183G |
probably damaging |
Het |
|
Other mutations in Itgb2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01482:Itgb2l
|
APN |
16 |
96,239,948 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01767:Itgb2l
|
APN |
16 |
96,231,775 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02056:Itgb2l
|
APN |
16 |
96,228,889 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02072:Itgb2l
|
APN |
16 |
96,231,808 (GRCm39) |
missense |
probably benign |
|
IGL02858:Itgb2l
|
APN |
16 |
96,223,850 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0011:Itgb2l
|
UTSW |
16 |
96,228,861 (GRCm39) |
splice site |
probably benign |
|
R0153:Itgb2l
|
UTSW |
16 |
96,238,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0270:Itgb2l
|
UTSW |
16 |
96,224,130 (GRCm39) |
unclassified |
probably benign |
|
R0496:Itgb2l
|
UTSW |
16 |
96,235,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0627:Itgb2l
|
UTSW |
16 |
96,224,111 (GRCm39) |
unclassified |
probably benign |
|
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1509:Itgb2l
|
UTSW |
16 |
96,228,049 (GRCm39) |
missense |
probably benign |
0.28 |
R1792:Itgb2l
|
UTSW |
16 |
96,226,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Itgb2l
|
UTSW |
16 |
96,228,135 (GRCm39) |
missense |
probably benign |
0.17 |
R2210:Itgb2l
|
UTSW |
16 |
96,227,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3160:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R3162:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R3836:Itgb2l
|
UTSW |
16 |
96,227,367 (GRCm39) |
missense |
probably benign |
|
R4131:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R4132:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R4254:Itgb2l
|
UTSW |
16 |
96,231,777 (GRCm39) |
missense |
probably benign |
0.00 |
R4854:Itgb2l
|
UTSW |
16 |
96,227,317 (GRCm39) |
nonsense |
probably null |
|
R4893:Itgb2l
|
UTSW |
16 |
96,229,021 (GRCm39) |
missense |
probably benign |
0.12 |
R4931:Itgb2l
|
UTSW |
16 |
96,238,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5039:Itgb2l
|
UTSW |
16 |
96,226,205 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5055:Itgb2l
|
UTSW |
16 |
96,229,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R5960:Itgb2l
|
UTSW |
16 |
96,227,459 (GRCm39) |
missense |
probably benign |
0.00 |
R6412:Itgb2l
|
UTSW |
16 |
96,228,929 (GRCm39) |
missense |
probably benign |
0.04 |
R6966:Itgb2l
|
UTSW |
16 |
96,231,843 (GRCm39) |
missense |
probably benign |
0.02 |
R7149:Itgb2l
|
UTSW |
16 |
96,234,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Itgb2l
|
UTSW |
16 |
96,230,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Itgb2l
|
UTSW |
16 |
96,227,996 (GRCm39) |
nonsense |
probably null |
|
R7482:Itgb2l
|
UTSW |
16 |
96,228,033 (GRCm39) |
missense |
probably benign |
0.01 |
R7570:Itgb2l
|
UTSW |
16 |
96,227,439 (GRCm39) |
missense |
probably benign |
0.00 |
R7743:Itgb2l
|
UTSW |
16 |
96,238,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Itgb2l
|
UTSW |
16 |
96,228,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Itgb2l
|
UTSW |
16 |
96,233,857 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Itgb2l
|
UTSW |
16 |
96,236,876 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Itgb2l
|
UTSW |
16 |
96,238,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |