Incidental Mutation 'IGL02555:Itgb8'
ID |
298479 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itgb8
|
Ensembl Gene |
ENSMUSG00000025321 |
Gene Name |
integrin beta 8 |
Synonyms |
4832412O06Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02555
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119153616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 300
(V300M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
AlphaFold |
Q0VBD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026360
AA Change: V300M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026360 Gene: ENSMUSG00000025321 AA Change: V300M
Domain | Start | End | E-Value | Type |
Blast:INB
|
1 |
44 |
9e-8 |
BLAST |
PSI
|
46 |
95 |
6.65e-9 |
SMART |
INB
|
54 |
469 |
4.31e-237 |
SMART |
VWA
|
146 |
352 |
2.15e-1 |
SMART |
Blast:INB
|
494 |
532 |
9e-12 |
BLAST |
EGF
|
551 |
583 |
1.53e1 |
SMART |
transmembrane domain
|
680 |
702 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151023
|
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 is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruption of this gene either die before E11.5 as a result of circulatory abnormalities in the placenta or die within the first for days after birth and display intracerebral hemorrhaging. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
G |
A |
1: 36,740,828 (GRCm39) |
R199C |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
Begain |
A |
G |
12: 109,000,115 (GRCm39) |
S219P |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
F13b |
T |
C |
1: 139,444,924 (GRCm39) |
C525R |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,734,152 (GRCm39) |
I417M |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
Prox2 |
C |
T |
12: 85,142,034 (GRCm39) |
W56* |
probably null |
Het |
Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
probably damaging |
Het |
|
Other mutations in Itgb8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Itgb8
|
APN |
12 |
119,153,561 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01859:Itgb8
|
APN |
12 |
119,153,680 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02665:Itgb8
|
APN |
12 |
119,130,600 (GRCm39) |
splice site |
probably benign |
|
IGL02732:Itgb8
|
APN |
12 |
119,127,088 (GRCm39) |
missense |
probably benign |
0.09 |
R0090:Itgb8
|
UTSW |
12 |
119,166,298 (GRCm39) |
missense |
probably benign |
0.00 |
R0245:Itgb8
|
UTSW |
12 |
119,154,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Itgb8
|
UTSW |
12 |
119,166,216 (GRCm39) |
missense |
probably benign |
0.38 |
R1158:Itgb8
|
UTSW |
12 |
119,166,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Itgb8
|
UTSW |
12 |
119,134,738 (GRCm39) |
missense |
probably benign |
0.03 |
R1370:Itgb8
|
UTSW |
12 |
119,134,738 (GRCm39) |
missense |
probably benign |
0.03 |
R1604:Itgb8
|
UTSW |
12 |
119,166,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R1689:Itgb8
|
UTSW |
12 |
119,134,555 (GRCm39) |
missense |
probably benign |
0.38 |
R1782:Itgb8
|
UTSW |
12 |
119,155,853 (GRCm39) |
missense |
probably damaging |
0.99 |
R1789:Itgb8
|
UTSW |
12 |
119,166,190 (GRCm39) |
missense |
probably benign |
|
R2113:Itgb8
|
UTSW |
12 |
119,154,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R2301:Itgb8
|
UTSW |
12 |
119,166,190 (GRCm39) |
missense |
probably benign |
|
R3696:Itgb8
|
UTSW |
12 |
119,140,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R3797:Itgb8
|
UTSW |
12 |
119,127,204 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3911:Itgb8
|
UTSW |
12 |
119,131,740 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4904:Itgb8
|
UTSW |
12 |
119,134,606 (GRCm39) |
missense |
probably benign |
0.00 |
R5391:Itgb8
|
UTSW |
12 |
119,134,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Itgb8
|
UTSW |
12 |
119,134,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R5444:Itgb8
|
UTSW |
12 |
119,201,573 (GRCm39) |
utr 5 prime |
probably benign |
|
R5461:Itgb8
|
UTSW |
12 |
119,131,740 (GRCm39) |
missense |
probably benign |
0.28 |
R5610:Itgb8
|
UTSW |
12 |
119,134,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5669:Itgb8
|
UTSW |
12 |
119,154,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5877:Itgb8
|
UTSW |
12 |
119,166,271 (GRCm39) |
missense |
probably benign |
0.37 |
R6581:Itgb8
|
UTSW |
12 |
119,126,950 (GRCm39) |
missense |
probably benign |
0.41 |
R6597:Itgb8
|
UTSW |
12 |
119,137,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6631:Itgb8
|
UTSW |
12 |
119,144,712 (GRCm39) |
nonsense |
probably null |
|
R6971:Itgb8
|
UTSW |
12 |
119,154,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Itgb8
|
UTSW |
12 |
119,166,159 (GRCm39) |
nonsense |
probably null |
|
R7246:Itgb8
|
UTSW |
12 |
119,131,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R7282:Itgb8
|
UTSW |
12 |
119,201,443 (GRCm39) |
missense |
probably benign |
0.00 |
R7299:Itgb8
|
UTSW |
12 |
119,166,196 (GRCm39) |
missense |
probably benign |
0.00 |
R7340:Itgb8
|
UTSW |
12 |
119,155,939 (GRCm39) |
missense |
probably benign |
0.45 |
R7373:Itgb8
|
UTSW |
12 |
119,166,210 (GRCm39) |
missense |
probably benign |
0.01 |
R7766:Itgb8
|
UTSW |
12 |
119,127,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Itgb8
|
UTSW |
12 |
119,130,507 (GRCm39) |
missense |
probably benign |
|
R8195:Itgb8
|
UTSW |
12 |
119,131,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Itgb8
|
UTSW |
12 |
119,134,513 (GRCm39) |
missense |
probably benign |
0.01 |
R8454:Itgb8
|
UTSW |
12 |
119,134,513 (GRCm39) |
missense |
probably benign |
0.01 |
R9151:Itgb8
|
UTSW |
12 |
119,130,535 (GRCm39) |
missense |
probably benign |
0.30 |
R9583:Itgb8
|
UTSW |
12 |
119,153,708 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9588:Itgb8
|
UTSW |
12 |
119,140,754 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-04-16 |