Incidental Mutation 'R5669:Itgb8'
| ID |
442532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb8
|
| Ensembl Gene |
ENSMUSG00000025321 |
| Gene Name |
integrin beta 8 |
| Synonyms |
4832412O06Rik |
| MMRRC Submission |
043312-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5669 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
119158022-119238802 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119190628 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 225
(I225F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
| AlphaFold |
Q0VBD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026360
AA Change: I225F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: I225F
| 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: ENSMUST00000151023
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| Akap9 |
T |
A |
5: 4,050,540 (GRCm38) |
L2734* |
probably null |
Het |
| Aldh1a1 |
T |
C |
19: 20,610,920 (GRCm38) |
I25T |
probably damaging |
Het |
| Astl |
G |
T |
2: 127,347,279 (GRCm38) |
R175L |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,497,913 (GRCm38) |
C661S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,808,898 (GRCm38) |
|
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,302,013 (GRCm38) |
|
probably null |
Het |
| Cdip1 |
T |
A |
16: 4,768,815 (GRCm38) |
I149F |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,924,968 (GRCm38) |
Y607C |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,925,998 (GRCm38) |
I1256T |
unknown |
Het |
| Copb1 |
A |
G |
7: 114,237,585 (GRCm38) |
V336A |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,241,819 (GRCm38) |
D556V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,460,038 (GRCm38) |
V279A |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,797,584 (GRCm38) |
N284S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 109,145,510 (GRCm38) |
I314N |
probably benign |
Het |
| Foxa3 |
T |
C |
7: 19,014,251 (GRCm38) |
T317A |
probably benign |
Het |
| Gm14139 |
A |
G |
2: 150,192,178 (GRCm38) |
I140V |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,352 (GRCm38) |
C498S |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 79,117,496 (GRCm38) |
|
probably null |
Het |
| Igkv4-54 |
A |
G |
6: 69,631,848 (GRCm38) |
V29A |
possibly damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,622,349 (GRCm38) |
T248A |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 45,114,252 (GRCm38) |
Q130R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,111,038 (GRCm38) |
H2058R |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,476,225 (GRCm38) |
E1581V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,903,426 (GRCm38) |
N252D |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,807,431 (GRCm38) |
G335S |
probably damaging |
Het |
| Olfr1115 |
T |
C |
2: 87,252,441 (GRCm38) |
V168A |
probably benign |
Het |
| Olfr58 |
T |
C |
9: 19,783,757 (GRCm38) |
F208S |
probably benign |
Het |
| Pak7 |
G |
A |
2: 136,116,284 (GRCm38) |
P295S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,130,102 (GRCm38) |
S595T |
probably benign |
Het |
| Pepd |
T |
C |
7: 35,040,674 (GRCm38) |
V324A |
probably benign |
Het |
| Pml |
C |
T |
9: 58,247,063 (GRCm38) |
D176N |
probably benign |
Het |
| Popdc3 |
T |
A |
10: 45,316,433 (GRCm38) |
I163N |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,373,022 (GRCm38) |
T481P |
probably benign |
Het |
| Pramef12 |
T |
C |
4: 144,395,843 (GRCm38) |
I44V |
probably benign |
Het |
| Prlh |
A |
G |
1: 90,953,120 (GRCm38) |
T5A |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,012,943 (GRCm38) |
F638S |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,504,738 (GRCm38) |
L1897H |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,184,243 (GRCm38) |
T91A |
probably benign |
Het |
| Retsat |
A |
G |
6: 72,606,010 (GRCm38) |
S176G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,458,785 (GRCm38) |
L3823P |
possibly damaging |
Het |
| Rnf31 |
C |
T |
14: 55,596,704 (GRCm38) |
A653V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,147,867 (GRCm38) |
D90G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,300,387 (GRCm38) |
Y194H |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,825,439 (GRCm38) |
A556T |
probably benign |
Het |
| Serpinb1a |
A |
G |
13: 32,845,316 (GRCm38) |
L243P |
probably damaging |
Het |
| Slc39a4 |
A |
C |
15: 76,614,163 (GRCm38) |
L358R |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,681,623 (GRCm38) |
D893G |
probably damaging |
Het |
| Srgap1 |
C |
A |
10: 121,804,850 (GRCm38) |
V681L |
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,454,956 (GRCm38) |
M262K |
possibly damaging |
Het |
| Ttf2 |
T |
A |
3: 100,951,117 (GRCm38) |
K719* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,675,737 (GRCm38) |
L139* |
probably null |
Het |
|
| Other mutations in Itgb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Itgb8
|
APN |
12 |
119,189,826 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01859:Itgb8
|
APN |
12 |
119,189,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02555:Itgb8
|
APN |
12 |
119,189,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02665:Itgb8
|
APN |
12 |
119,166,865 (GRCm38) |
splice site |
probably benign |
|
|
IGL02732:Itgb8
|
APN |
12 |
119,163,353 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0090:Itgb8
|
UTSW |
12 |
119,202,563 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0245:Itgb8
|
UTSW |
12 |
119,190,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0629:Itgb8
|
UTSW |
12 |
119,202,481 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1158:Itgb8
|
UTSW |
12 |
119,202,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1355:Itgb8
|
UTSW |
12 |
119,171,003 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1370:Itgb8
|
UTSW |
12 |
119,171,003 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1604:Itgb8
|
UTSW |
12 |
119,202,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1689:Itgb8
|
UTSW |
12 |
119,170,820 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1782:Itgb8
|
UTSW |
12 |
119,192,118 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1789:Itgb8
|
UTSW |
12 |
119,202,455 (GRCm38) |
missense |
probably benign |
|
|
R2113:Itgb8
|
UTSW |
12 |
119,190,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2301:Itgb8
|
UTSW |
12 |
119,202,455 (GRCm38) |
missense |
probably benign |
|
|
R3696:Itgb8
|
UTSW |
12 |
119,177,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3797:Itgb8
|
UTSW |
12 |
119,163,469 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3911:Itgb8
|
UTSW |
12 |
119,168,005 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4904:Itgb8
|
UTSW |
12 |
119,170,871 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5391:Itgb8
|
UTSW |
12 |
119,170,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Itgb8
|
UTSW |
12 |
119,170,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5444:Itgb8
|
UTSW |
12 |
119,237,838 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5461:Itgb8
|
UTSW |
12 |
119,168,005 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5610:Itgb8
|
UTSW |
12 |
119,170,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5877:Itgb8
|
UTSW |
12 |
119,202,536 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6581:Itgb8
|
UTSW |
12 |
119,163,215 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6597:Itgb8
|
UTSW |
12 |
119,173,398 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6631:Itgb8
|
UTSW |
12 |
119,180,977 (GRCm38) |
nonsense |
probably null |
|
|
R6971:Itgb8
|
UTSW |
12 |
119,190,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7124:Itgb8
|
UTSW |
12 |
119,202,424 (GRCm38) |
nonsense |
probably null |
|
|
R7246:Itgb8
|
UTSW |
12 |
119,168,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7282:Itgb8
|
UTSW |
12 |
119,237,708 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7299:Itgb8
|
UTSW |
12 |
119,202,461 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7340:Itgb8
|
UTSW |
12 |
119,192,204 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7373:Itgb8
|
UTSW |
12 |
119,202,475 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7766:Itgb8
|
UTSW |
12 |
119,163,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7855:Itgb8
|
UTSW |
12 |
119,166,772 (GRCm38) |
missense |
probably benign |
|
|
R8195:Itgb8
|
UTSW |
12 |
119,168,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8354:Itgb8
|
UTSW |
12 |
119,170,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8454:Itgb8
|
UTSW |
12 |
119,170,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9151:Itgb8
|
UTSW |
12 |
119,166,800 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9583:Itgb8
|
UTSW |
12 |
119,189,973 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9588:Itgb8
|
UTSW |
12 |
119,177,019 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTCTTGCACCCTCAGC -3'
(R):5'- AGTGCTTCATTGACCTGTATTCATG -3'
Sequencing Primer
(F):5'- GCACCCTCAGCTACATCTG -3'
(R):5'- TCATTGACCTGTATTCATGAAACAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation