Incidental Mutation 'R9588:Itgb8'
ID |
722903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb8
|
Ensembl Gene |
ENSMUSG00000025321 |
Gene Name |
integrin beta 8 |
Synonyms |
4832412O06Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9588 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 119140754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 374
(N374K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
AlphaFold |
Q0VBD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026360
AA Change: N374K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000026360 Gene: ENSMUSG00000025321 AA Change: N374K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
T |
C |
2: 158,468,328 (GRCm39) |
F153L |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,528,342 (GRCm39) |
K491E |
possibly damaging |
Het |
Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
Bcat1 |
T |
C |
6: 144,950,126 (GRCm39) |
N424S |
probably benign |
Het |
Ccdc61 |
A |
G |
7: 18,644,266 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,733,770 (GRCm39) |
S586P |
possibly damaging |
Het |
Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
Cops5 |
C |
A |
1: 10,108,222 (GRCm39) |
R5L |
unknown |
Het |
Cpne2 |
C |
A |
8: 95,286,781 (GRCm39) |
P369Q |
possibly damaging |
Het |
Cyp3a25 |
G |
T |
5: 145,921,699 (GRCm39) |
Q412K |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,622,785 (GRCm39) |
V612A |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,783 (GRCm39) |
D426G |
probably benign |
Het |
Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
T |
13: 31,992,587 (GRCm39) |
H466L |
unknown |
Het |
Hsf2bp |
A |
G |
17: 32,241,810 (GRCm39) |
L78P |
probably damaging |
Het |
Ikbkb |
G |
A |
8: 23,151,410 (GRCm39) |
A738V |
unknown |
Het |
Kif16b |
T |
A |
2: 142,553,804 (GRCm39) |
Q998L |
possibly damaging |
Het |
Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
Mmp1a |
C |
T |
9: 7,467,225 (GRCm39) |
T267I |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,978,130 (GRCm39) |
D1299E |
probably benign |
Het |
Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
Or14c39 |
T |
A |
7: 86,343,948 (GRCm39) |
C95S |
probably damaging |
Het |
Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,564 (GRCm39) |
D339G |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,100,870 (GRCm39) |
D160E |
probably benign |
Het |
Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,121,025 (GRCm39) |
N1078S |
probably damaging |
Het |
Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
Spata17 |
T |
C |
1: 186,849,471 (GRCm39) |
K255E |
possibly damaging |
Het |
Surf4 |
C |
A |
2: 26,823,622 (GRCm39) |
|
probably benign |
Het |
Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
Thsd7b |
T |
G |
1: 130,108,223 (GRCm39) |
C1313G |
probably damaging |
Het |
Trmt44 |
A |
T |
5: 35,727,256 (GRCm39) |
C320S |
probably damaging |
Het |
Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
Vit |
T |
A |
17: 78,930,079 (GRCm39) |
I348N |
probably damaging |
Het |
Vmn1r184 |
T |
A |
7: 25,966,347 (GRCm39) |
M31K |
probably null |
Het |
Vmn2r81 |
A |
G |
10: 79,129,205 (GRCm39) |
T699A |
possibly damaging |
Het |
Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
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 |
IGL02555:Itgb8
|
APN |
12 |
119,153,616 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGCTAGTCTGTGGTCCATCC -3'
(R):5'- AACACTGATACTTCTCTTAGCTTGC -3'
Sequencing Primer
(F):5'- CAGCAGTGCTGCTTTGTA -3'
(R):5'- GTCATATCATGCACCCGA -3'
|
Posted On |
2022-08-09 |