Incidental Mutation 'IGL02483:Itgbl1'
ID |
295335 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itgbl1
|
Ensembl Gene |
ENSMUSG00000032925 |
Gene Name |
integrin, beta-like 1 |
Synonyms |
with EGF-like repeat domains, B930011D01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02483
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 124065155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
AlphaFold |
Q8VDV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049681
|
SMART Domains |
Protein: ENSMUSP00000059019 Gene: ENSMUSG00000032925
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
internal_repeat_1
|
62 |
164 |
7.9e-12 |
PROSPERO |
EGF_like
|
184 |
217 |
6.95e1 |
SMART |
EGF
|
275 |
311 |
2.25e1 |
SMART |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
Pfam:EGF_2
|
368 |
398 |
3.6e-8 |
PFAM |
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
low complexity region
|
448 |
456 |
N/A |
INTRINSIC |
Blast:EGF_like
|
457 |
486 |
4e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132026
|
SMART Domains |
Protein: ENSMUSP00000115455 Gene: ENSMUSG00000032925
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
22 |
50 |
3.54e-8 |
PROSPERO |
internal_repeat_1
|
23 |
87 |
7.45e-14 |
PROSPERO |
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
EGF
|
151 |
187 |
2.25e1 |
SMART |
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
Pfam:EGF_2
|
239 |
274 |
1.5e-7 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
low complexity region
|
324 |
332 |
N/A |
INTRINSIC |
internal_repeat_2
|
334 |
362 |
3.54e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142161
|
SMART Domains |
Protein: ENSMUSP00000121659 Gene: ENSMUSG00000032925
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
PDB:4G1E|B
|
59 |
171 |
1e-17 |
PDB |
Blast:EGF_like
|
90 |
127 |
5e-15 |
BLAST |
low complexity region
|
178 |
192 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
G |
8: 84,451,882 (GRCm39) |
I512L |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
Cyp2c39 |
T |
A |
19: 39,525,231 (GRCm39) |
I178N |
probably damaging |
Het |
Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,635,990 (GRCm39) |
V54A |
possibly damaging |
Het |
Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
Kdr |
C |
T |
5: 76,096,954 (GRCm39) |
|
probably null |
Het |
Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
|
Other mutations in Itgbl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Itgbl1
|
APN |
14 |
124,083,844 (GRCm39) |
splice site |
probably benign |
|
IGL01290:Itgbl1
|
APN |
14 |
124,204,137 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01618:Itgbl1
|
APN |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02024:Itgbl1
|
APN |
14 |
124,094,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Itgbl1
|
APN |
14 |
124,081,338 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02215:Itgbl1
|
APN |
14 |
124,209,553 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02400:Itgbl1
|
APN |
14 |
124,083,938 (GRCm39) |
missense |
probably damaging |
1.00 |
BB002:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
BB012:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
H8441:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R0137:Itgbl1
|
UTSW |
14 |
124,078,098 (GRCm39) |
critical splice donor site |
probably null |
|
R0193:Itgbl1
|
UTSW |
14 |
124,083,958 (GRCm39) |
missense |
probably benign |
0.09 |
R0355:Itgbl1
|
UTSW |
14 |
124,077,997 (GRCm39) |
nonsense |
probably null |
|
R0598:Itgbl1
|
UTSW |
14 |
124,094,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0662:Itgbl1
|
UTSW |
14 |
124,065,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Itgbl1
|
UTSW |
14 |
124,065,259 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1385:Itgbl1
|
UTSW |
14 |
123,898,923 (GRCm39) |
splice site |
probably null |
|
R1957:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3842:Itgbl1
|
UTSW |
14 |
124,077,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4434:Itgbl1
|
UTSW |
14 |
124,209,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Itgbl1
|
UTSW |
14 |
124,078,080 (GRCm39) |
missense |
probably damaging |
0.97 |
R4696:Itgbl1
|
UTSW |
14 |
124,204,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Itgbl1
|
UTSW |
14 |
124,210,780 (GRCm39) |
missense |
probably benign |
0.12 |
R5087:Itgbl1
|
UTSW |
14 |
124,204,151 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5747:Itgbl1
|
UTSW |
14 |
124,209,576 (GRCm39) |
nonsense |
probably null |
|
R6020:Itgbl1
|
UTSW |
14 |
124,083,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R6169:Itgbl1
|
UTSW |
14 |
123,897,790 (GRCm39) |
missense |
probably benign |
0.17 |
R6758:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
R7213:Itgbl1
|
UTSW |
14 |
124,210,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Itgbl1
|
UTSW |
14 |
124,081,316 (GRCm39) |
missense |
probably damaging |
0.96 |
R7378:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
R7461:Itgbl1
|
UTSW |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7664:Itgbl1
|
UTSW |
14 |
124,083,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R7841:Itgbl1
|
UTSW |
14 |
124,209,645 (GRCm39) |
critical splice donor site |
probably null |
|
R7925:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8115:Itgbl1
|
UTSW |
14 |
124,094,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Itgbl1
|
UTSW |
14 |
124,065,246 (GRCm39) |
missense |
probably benign |
0.00 |
R8778:Itgbl1
|
UTSW |
14 |
124,078,075 (GRCm39) |
missense |
probably benign |
0.01 |
R8978:Itgbl1
|
UTSW |
14 |
124,209,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Itgbl1
|
UTSW |
14 |
124,094,970 (GRCm39) |
missense |
probably benign |
|
V1024:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Itgbl1
|
UTSW |
14 |
123,898,717 (GRCm39) |
missense |
probably benign |
0.01 |
X0017:Itgbl1
|
UTSW |
14 |
124,209,623 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Itgbl1
|
UTSW |
14 |
124,192,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |