Incidental Mutation 'R6631:Itgb8'
| ID |
525158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb8
|
| Ensembl Gene |
ENSMUSG00000025321 |
| Gene Name |
integrin beta 8 |
| Synonyms |
4832412O06Rik |
| MMRRC Submission |
044753-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119121757-119202537 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 119144712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 332
(L332*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026360]
|
| AlphaFold |
Q0VBD0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026360
AA Change: L332*
|
| SMART Domains |
Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: L332*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (50/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
T |
9: 15,203,326 (GRCm39) |
N159K |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,245,058 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,861,107 (GRCm39) |
D4G |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,843,618 (GRCm39) |
S153G |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,747 (GRCm39) |
D877N |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,519,405 (GRCm39) |
A257V |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,931 (GRCm39) |
H366L |
probably benign |
Het |
| Cyp2c37 |
C |
T |
19: 39,998,287 (GRCm39) |
S393L |
probably damaging |
Het |
| Defb8 |
T |
A |
8: 19,495,950 (GRCm39) |
I37L |
probably benign |
Het |
| Dennd4b |
C |
A |
3: 90,185,039 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
G |
A |
7: 140,936,115 (GRCm39) |
R223H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,961,400 (GRCm39) |
L1302P |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,021,993 (GRCm39) |
W37R |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,333,725 (GRCm39) |
N668S |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,565,107 (GRCm39) |
N250S |
probably damaging |
Het |
| H2bc12 |
T |
A |
13: 22,220,391 (GRCm39) |
V112E |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,956 (GRCm39) |
P732Q |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Kctd19 |
A |
G |
8: 106,111,960 (GRCm39) |
|
probably null |
Het |
| Kif14 |
G |
A |
1: 136,443,697 (GRCm39) |
S1290N |
probably benign |
Het |
| Klk1b3 |
C |
T |
7: 43,850,888 (GRCm39) |
T140I |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,081,477 (GRCm39) |
N1305D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,813,440 (GRCm39) |
|
probably null |
Het |
| Mocos |
A |
G |
18: 24,832,988 (GRCm39) |
T818A |
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,081 (GRCm39) |
W94L |
probably benign |
Het |
| Mrc1 |
G |
A |
2: 14,243,296 (GRCm39) |
V141I |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,697,663 (GRCm39) |
T538A |
probably benign |
Het |
| Ndufs3 |
G |
A |
2: 90,732,744 (GRCm39) |
T114M |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,621 (GRCm39) |
C320R |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,185 (GRCm39) |
Q232L |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,138,844 (GRCm39) |
A158S |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,109 (GRCm39) |
D388E |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,712,069 (GRCm39) |
E1051G |
possibly damaging |
Het |
| Phlda2 |
T |
A |
7: 143,055,918 (GRCm39) |
I104F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Pomt2 |
C |
T |
12: 87,186,417 (GRCm39) |
|
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
T |
G |
4: 142,861,454 (GRCm39) |
Q612P |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,586,978 (GRCm39) |
R243S |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,233 (GRCm39) |
I250T |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,590,739 (GRCm39) |
C462* |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,329,969 (GRCm39) |
E682V |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,725 (GRCm39) |
D210G |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,748 (GRCm39) |
D326E |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,209,374 (GRCm39) |
E829G |
probably damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,995 (GRCm39) |
W319* |
probably null |
Het |
| Taar8c |
A |
G |
10: 23,977,701 (GRCm39) |
V37A |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,184,654 (GRCm39) |
Y753F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,222 (GRCm39) |
S3770G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,708,460 (GRCm39) |
N48S |
possibly damaging |
Het |
| Zfp558 |
C |
A |
9: 18,368,219 (GRCm39) |
G190* |
probably null |
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 |
|
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 |
|
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'- CACAGTTCTAGGTGTCCTGGATAG -3'
(R):5'- TGTTCCTTGACTGTCACAAACAAG -3'
Sequencing Primer
(F):5'- GGTGTCCTGGATAGAATATACACC -3'
(R):5'- CTTGACTGTCACAAACAAGTAAATGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation