Incidental Mutation 'R5391:Itgb8'
ID |
425868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb8
|
Ensembl Gene |
ENSMUSG00000025321 |
Gene Name |
integrin beta 8 |
Synonyms |
4832412O06Rik |
MMRRC Submission |
042963-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5391 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 119134476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 530
(C530W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
AlphaFold |
Q0VBD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026360
AA Change: C530W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026360 Gene: ENSMUSG00000025321 AA Change: C530W
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,855,481 (GRCm39) |
M38I |
probably null |
Het |
Actl7a |
A |
G |
4: 56,743,661 (GRCm39) |
T63A |
probably benign |
Het |
Amfr |
G |
A |
8: 94,702,676 (GRCm39) |
P497S |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,325,352 (GRCm39) |
I122V |
probably damaging |
Het |
Asap1 |
G |
T |
15: 63,965,901 (GRCm39) |
T1011K |
possibly damaging |
Het |
Cbfa2t3 |
G |
A |
8: 123,360,134 (GRCm39) |
R506* |
probably null |
Het |
Ccs |
C |
G |
19: 4,883,510 (GRCm39) |
C96S |
probably benign |
Het |
Cpt1a |
A |
G |
19: 3,399,260 (GRCm39) |
D20G |
probably damaging |
Het |
Ctdspl2 |
G |
A |
2: 121,834,629 (GRCm39) |
|
probably null |
Het |
Dhx57 |
T |
C |
17: 80,582,510 (GRCm39) |
Y365C |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,689,299 (GRCm39) |
M38I |
probably benign |
Het |
Dnajc6 |
T |
C |
4: 101,485,355 (GRCm39) |
|
probably null |
Het |
Elac2 |
A |
G |
11: 64,885,120 (GRCm39) |
S450G |
probably benign |
Het |
Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,269,404 (GRCm39) |
N803S |
probably benign |
Het |
Itgb4 |
T |
A |
11: 115,875,894 (GRCm39) |
M477K |
probably benign |
Het |
Krt78 |
C |
A |
15: 101,860,263 (GRCm39) |
E218* |
probably null |
Het |
Lpar1 |
A |
G |
4: 58,486,902 (GRCm39) |
L105P |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
Mov10 |
G |
A |
3: 104,709,849 (GRCm39) |
H346Y |
probably benign |
Het |
Nfia |
A |
G |
4: 97,671,538 (GRCm39) |
I83V |
probably damaging |
Het |
Or5b101 |
G |
T |
19: 13,005,150 (GRCm39) |
A181E |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,808 (GRCm39) |
Y33C |
probably damaging |
Het |
Pcdhgb6 |
T |
G |
18: 37,875,640 (GRCm39) |
I116S |
probably damaging |
Het |
Pdcd6ip |
G |
T |
9: 113,520,586 (GRCm39) |
Q133K |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
Pik3cd |
A |
T |
4: 149,743,588 (GRCm39) |
V207E |
probably damaging |
Het |
Ptov1 |
T |
C |
7: 44,513,008 (GRCm39) |
Q397R |
probably damaging |
Het |
Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
Rasl12 |
G |
T |
9: 65,305,949 (GRCm39) |
A35S |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,330,044 (GRCm39) |
V657A |
possibly damaging |
Het |
Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
Tbce |
T |
C |
13: 14,180,550 (GRCm39) |
I293M |
probably damaging |
Het |
Tektl1 |
G |
A |
10: 78,588,688 (GRCm39) |
Q41* |
probably null |
Het |
Tmem176a |
T |
C |
6: 48,821,630 (GRCm39) |
L204P |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,193,358 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
T |
1: 74,029,568 (GRCm39) |
|
probably null |
Het |
Usf3 |
T |
A |
16: 44,037,826 (GRCm39) |
S769T |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,192,491 (GRCm39) |
T23A |
probably null |
Het |
Vps26a |
A |
G |
10: 62,292,526 (GRCm39) |
*328Q |
probably null |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,316,906 (GRCm39) |
I729K |
unknown |
Het |
Zbtb44 |
A |
G |
9: 30,964,601 (GRCm39) |
|
probably null |
Het |
Zfp800 |
A |
T |
6: 28,242,992 (GRCm39) |
S658T |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
Zfp935 |
G |
T |
13: 62,602,632 (GRCm39) |
Y189* |
probably null |
Het |
Zkscan1 |
T |
A |
5: 138,095,363 (GRCm39) |
H203Q |
probably benign |
Het |
Zkscan14 |
T |
C |
5: 145,132,604 (GRCm39) |
D309G |
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 |
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 |
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'- TGGGTTAAGTGGCAGTACCTC -3'
(R):5'- CACATACACAGAAGCTGCAGTTG -3'
Sequencing Primer
(F):5'- GGTTAAGTGGCAGTACCTCATCAC -3'
(R):5'- TTGCCAGTGTGAGAACCAC -3'
|
Posted On |
2016-08-04 |