Incidental Mutation 'IGL01482:Itgb2l'
| ID |
88651 |
| 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: 0.078)
|
| Stock # |
IGL01482
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96239948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 17
(L17Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113795]
[ENSMUST00000131567]
|
| AlphaFold |
Q3UV74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000161
AA Change: L17Q
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: L17Q
| 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: L17Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: L17Q
| 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: 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
AA Change: L17Q
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: L17Q
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
T |
1: 120,099,201 (GRCm39) |
D98V |
probably benign |
Het |
| Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
| Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
| Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
| Dennd2a |
T |
C |
6: 39,457,243 (GRCm39) |
H733R |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
| Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
| Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
| Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
| Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,357,340 (GRCm39) |
S711P |
probably damaging |
Het |
| Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
| Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,346 (GRCm39) |
V340A |
probably benign |
Het |
| Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
| Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,857,639 (GRCm39) |
N66S |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
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 |
|
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 |
2013-11-18 |
Incidental Mutation