Incidental Mutation 'R1355:Itgb8'
ID |
156293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb8
|
Ensembl Gene |
ENSMUSG00000025321 |
Gene Name |
integrin beta 8 |
Synonyms |
4832412O06Rik |
MMRRC Submission |
039420-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1355 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119134738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 443
(G443E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
AlphaFold |
Q0VBD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026360
AA Change: G443E
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000026360 Gene: ENSMUSG00000025321 AA Change: G443E
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 |
|
Meta Mutation Damage Score |
0.0739 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
Garin5a |
A |
G |
7: 44,146,115 (GRCm39) |
K2E |
possibly damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
A |
T |
10: 29,023,318 (GRCm39) |
T222S |
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
Uckl1 |
G |
T |
2: 181,215,169 (GRCm39) |
T213K |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGTCATCACACTGTGGACAC -3'
(R):5'- AGCTGGAGAATAAGTCCTGAGCCTC -3'
Sequencing Primer
(F):5'- ACACTGTGGACACTTGGGG -3'
(R):5'- CATGGTGATTTACAGGCCATTAGC -3'
|
Posted On |
2014-02-11 |