Incidental Mutation 'R6581:Itgb8'
| ID |
523443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb8
|
| Ensembl Gene |
ENSMUSG00000025321 |
| Gene Name |
integrin beta 8 |
| Synonyms |
4832412O06Rik |
| MMRRC Submission |
044705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6581 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119126950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 736
(C736S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
| AlphaFold |
Q0VBD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026360
AA Change: C736S
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: C736S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| 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 |
|---|
| Aldh8a1 |
G |
A |
10: 21,256,741 (GRCm39) |
V51M |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,799,615 (GRCm39) |
I471F |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,292,226 (GRCm39) |
E37V |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,359,160 (GRCm39) |
I337F |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,258,449 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,313,999 (GRCm39) |
Y426* |
probably null |
Het |
| Gm21103 |
A |
T |
14: 17,484,809 (GRCm39) |
N78K |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,172 (GRCm39) |
V2755A |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,487,632 (GRCm39) |
E238D |
probably benign |
Het |
| Luzp1 |
A |
G |
4: 136,267,942 (GRCm39) |
E55G |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,900,574 (GRCm39) |
L589P |
probably damaging |
Het |
| Ms4a4d |
G |
A |
19: 11,532,204 (GRCm39) |
V117M |
probably damaging |
Het |
| Odad2 |
C |
T |
18: 7,129,560 (GRCm39) |
V873I |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,013 (GRCm39) |
L14P |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,032 (GRCm39) |
F126S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,428 (GRCm39) |
I59V |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,829,035 (GRCm39) |
F525S |
probably damaging |
Het |
| Smyd5 |
G |
A |
6: 85,409,005 (GRCm39) |
D7N |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,826,859 (GRCm39) |
R152L |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,192 (GRCm39) |
S559P |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
C |
A |
8: 85,782,033 (GRCm39) |
P874Q |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,143,075 (GRCm39) |
E185D |
possibly damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,489,465 (GRCm39) |
T248I |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,366 (GRCm39) |
F14L |
probably benign |
Het |
| Yaf2 |
T |
C |
15: 93,184,295 (GRCm39) |
T101A |
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 |
|
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 |
|
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'- ACACTTGCCAGTCTTCATGGC -3'
(R):5'- ACATTCTTGATCGGGTTGCTTAAAG -3'
Sequencing Primer
(F):5'- TGGCACACTCTTCAATATAATTTGTC -3'
(R):5'- ATCGGGTTGCTTAAAGTTCTTATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation