Incidental Mutation 'IGL02858:Itgb2l'
ID |
362046 |
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 # |
IGL02858
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96223850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 730
(W730R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113794]
[ENSMUST00000113795]
[ENSMUST00000131567]
[ENSMUST00000136292]
|
AlphaFold |
Q3UV74 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000161
AA Change: W730R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000000161 Gene: ENSMUSG00000000157 AA Change: W730R
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: ENSMUST00000113773
|
SMART Domains |
Protein: ENSMUSP00000109403 Gene: ENSMUSG00000000157
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 benign
Transcript: ENSMUST00000131567
|
SMART Domains |
Protein: ENSMUSP00000114497 Gene: ENSMUSG00000000157
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,596,599 (GRCm39) |
V126A |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,119,130 (GRCm39) |
Y3546H |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap45 |
C |
A |
10: 79,853,768 (GRCm39) |
T94N |
probably benign |
Het |
Arid1b |
T |
C |
17: 5,392,166 (GRCm39) |
S1899P |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 79,980,601 (GRCm39) |
V2E |
probably damaging |
Het |
Calr |
A |
T |
8: 85,571,528 (GRCm39) |
V155E |
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,619,422 (GRCm39) |
|
probably benign |
Het |
Chl1 |
A |
T |
6: 103,618,949 (GRCm39) |
L6F |
probably damaging |
Het |
Chrnb1 |
C |
T |
11: 69,675,935 (GRCm39) |
V436I |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,506,204 (GRCm39) |
E292G |
unknown |
Het |
Ddx56 |
A |
G |
11: 6,217,667 (GRCm39) |
L18P |
probably damaging |
Het |
Dhx36 |
A |
C |
3: 62,384,797 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,453,358 (GRCm39) |
R4376S |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,185,582 (GRCm39) |
D113V |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,512,118 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
A |
4: 98,833,442 (GRCm39) |
K1920* |
probably null |
Het |
Dysf |
A |
G |
6: 84,076,471 (GRCm39) |
D628G |
probably benign |
Het |
Exoc3l2 |
A |
G |
7: 19,229,109 (GRCm39) |
I176V |
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
Fzd4 |
C |
T |
7: 89,057,162 (GRCm39) |
T403M |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,288 (GRCm39) |
N162K |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,924 (GRCm39) |
K132* |
probably null |
Het |
Jmjd8 |
T |
C |
17: 26,049,134 (GRCm39) |
F230S |
probably damaging |
Het |
Krt72 |
G |
A |
15: 101,690,556 (GRCm39) |
T232M |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,740,540 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
C |
2: 31,900,384 (GRCm39) |
|
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,690,507 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
A |
G |
9: 19,831,747 (GRCm39) |
M81V |
probably damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,469 (GRCm39) |
Q24R |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,822 (GRCm39) |
Y113C |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
Sall3 |
G |
T |
18: 81,012,728 (GRCm39) |
A1236E |
probably damaging |
Het |
Sipa1 |
T |
C |
19: 5,705,736 (GRCm39) |
T411A |
probably damaging |
Het |
Thsd7a |
T |
G |
6: 12,500,994 (GRCm39) |
D471A |
probably benign |
Het |
Tm2d1 |
T |
A |
4: 98,263,192 (GRCm39) |
E100D |
probably damaging |
Het |
Tmcc1 |
A |
G |
6: 116,110,849 (GRCm39) |
V148A |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,986,518 (GRCm39) |
Y19* |
probably null |
Het |
Ubr3 |
A |
G |
2: 69,783,203 (GRCm39) |
Y713C |
probably damaging |
Het |
Uevld |
A |
G |
7: 46,605,377 (GRCm39) |
V39A |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,484,003 (GRCm39) |
H732Q |
probably damaging |
Het |
Zfp629 |
A |
T |
7: 127,209,484 (GRCm39) |
F775Y |
probably damaging |
Het |
|
Other mutations in Itgb2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Itgb2l
|
APN |
16 |
96,227,950 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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 |
2015-12-18 |