Incidental Mutation 'R2301:Itgb8'
| ID |
244430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb8
|
| Ensembl Gene |
ENSMUSG00000025321 |
| Gene Name |
integrin beta 8 |
| Synonyms |
4832412O06Rik |
| MMRRC Submission |
040300-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2301 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119166190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 114
(I114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
| AlphaFold |
Q0VBD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026360
AA Change: I114V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: I114V
| 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: ENSMUST00000137804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151023
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
| Chst13 |
A |
T |
6: 90,295,271 (GRCm39) |
S47R |
probably damaging |
Het |
| Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,369 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
| Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
| Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
| Polk |
T |
C |
13: 96,620,652 (GRCm39) |
E516G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
| Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,729,926 (GRCm39) |
N375S |
probably benign |
Het |
| Tti2 |
T |
C |
8: 31,645,823 (GRCm39) |
V379A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTAGCTACAAACATGACAGGG -3'
(R):5'- AAGGTTTCTTAAGTTGTCACAGAGG -3'
Sequencing Primer
(F):5'- GACAAGATCTGAGCTCAGTAGACTTC -3'
(R):5'- TTCAGGTGGATCAGGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation