Incidental Mutation 'R5202:Itgb1'
| ID |
400901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb1
|
| Ensembl Gene |
ENSMUSG00000025809 |
| Gene Name |
integrin beta 1 (fibronectin receptor beta) |
| Synonyms |
Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik |
| MMRRC Submission |
042777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129446491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 383
(I383F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
| AlphaFold |
P09055 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090006
AA Change: I383F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: I383F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PSI
|
26 |
76 |
3.01e-7 |
SMART |
|
INB
|
34 |
464 |
2e-298 |
SMART |
|
VWA
|
142 |
372 |
1.45e0 |
SMART |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
599 |
630 |
8.8e-8 |
PFAM |
|
Integrin_B_tail
|
640 |
728 |
4.58e-37 |
SMART |
|
transmembrane domain
|
729 |
751 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
752 |
798 |
3.43e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124826
|
| SMART Domains |
Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:3VI4|D
|
21 |
51 |
2e-16 |
PDB |
|
Blast:PSI
|
26 |
51 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149116
|
| SMART Domains |
Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_B_tail
|
1 |
39 |
1.9e-12 |
PFAM |
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
63 |
109 |
8.77e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [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 |
|---|
| 4932414N04Rik |
A |
T |
2: 68,562,308 (GRCm39) |
M312L |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,745,305 (GRCm39) |
D640Y |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,094,599 (GRCm39) |
Y384C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,737 (GRCm39) |
E289G |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,869 (GRCm39) |
R198S |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,819,042 (GRCm39) |
S109* |
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,668,891 (GRCm39) |
S569G |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,296 (GRCm39) |
I89N |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Csde1 |
T |
G |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Csf2rb |
T |
G |
15: 78,233,257 (GRCm39) |
S855A |
possibly damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,389,812 (GRCm39) |
D472E |
probably damaging |
Het |
| Cyp4f18 |
C |
A |
8: 72,762,940 (GRCm39) |
R49L |
probably benign |
Het |
| Daam1 |
G |
T |
12: 71,991,048 (GRCm39) |
V221L |
unknown |
Het |
| Dbr1 |
T |
G |
9: 99,465,944 (GRCm39) |
D507E |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,706,627 (GRCm39) |
M188V |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,660,990 (GRCm39) |
L1688* |
probably null |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| E2f3 |
G |
A |
13: 30,102,619 (GRCm39) |
T91I |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,853 (GRCm39) |
V157E |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,394,770 (GRCm39) |
T157S |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,458,767 (GRCm39) |
V2034A |
probably benign |
Het |
| Fzd10 |
T |
C |
5: 128,679,180 (GRCm39) |
V300A |
possibly damaging |
Het |
| Gbf1 |
A |
T |
19: 46,256,893 (GRCm39) |
M778L |
probably benign |
Het |
| Gm17472 |
T |
A |
6: 42,958,068 (GRCm39) |
N112K |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,424,330 (GRCm39) |
K845R |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,736,001 (GRCm39) |
S541T |
probably benign |
Het |
| Igkv4-68 |
G |
A |
6: 69,281,926 (GRCm39) |
R82C |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,033 (GRCm39) |
K210* |
probably null |
Het |
| Limch1 |
C |
G |
5: 67,150,516 (GRCm39) |
D163E |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,826,363 (GRCm39) |
D188E |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,310 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
T |
C |
9: 110,473,734 (GRCm39) |
E28G |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,064,116 (GRCm39) |
E201G |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,323,583 (GRCm39) |
H1330Y |
probably damaging |
Het |
| Nudt14 |
A |
G |
12: 112,898,648 (GRCm39) |
S151P |
probably damaging |
Het |
| Or14c45 |
C |
A |
7: 86,176,324 (GRCm39) |
R120S |
probably damaging |
Het |
| Or2ag2 |
T |
A |
7: 106,485,803 (GRCm39) |
T74S |
possibly damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,514 (GRCm39) |
F28L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,163 (GRCm39) |
D51G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,414,583 (GRCm39) |
F80I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,617,565 (GRCm39) |
S1007R |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,485,121 (GRCm39) |
Y196H |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,380,298 (GRCm39) |
D1371V |
probably damaging |
Het |
| Slc48a1 |
A |
T |
15: 97,688,581 (GRCm39) |
I140F |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,944,879 (GRCm39) |
V882A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,774,212 (GRCm39) |
G88W |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,189,455 (GRCm39) |
V427A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,463 (GRCm39) |
D69G |
probably benign |
Het |
| Tie1 |
C |
T |
4: 118,337,707 (GRCm39) |
V463I |
probably benign |
Het |
| Tmem150c |
G |
T |
5: 100,227,813 (GRCm39) |
H217N |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,866,252 (GRCm39) |
G1080R |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,727,011 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Itgb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Itgb1
|
APN |
8 |
129,440,399 (GRCm39) |
splice site |
probably benign |
|
|
IGL01407:Itgb1
|
APN |
8 |
129,449,315 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03025:Itgb1
|
APN |
8 |
129,449,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Drystacked
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Jumble
|
UTSW |
8 |
129,440,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Itgb1
|
UTSW |
8 |
129,436,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0244:Itgb1
|
UTSW |
8 |
129,444,166 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Itgb1
|
UTSW |
8 |
129,452,648 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0606:Itgb1
|
UTSW |
8 |
129,448,853 (GRCm39) |
unclassified |
probably benign |
|
|
R0657:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0865:Itgb1
|
UTSW |
8 |
129,436,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1052:Itgb1
|
UTSW |
8 |
129,439,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Itgb1
|
UTSW |
8 |
129,444,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1589:Itgb1
|
UTSW |
8 |
129,431,940 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1589:Itgb1
|
UTSW |
8 |
129,431,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1614:Itgb1
|
UTSW |
8 |
129,446,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Itgb1
|
UTSW |
8 |
129,458,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Itgb1
|
UTSW |
8 |
129,452,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Itgb1
|
UTSW |
8 |
129,446,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3786:Itgb1
|
UTSW |
8 |
129,439,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Itgb1
|
UTSW |
8 |
129,440,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Itgb1
|
UTSW |
8 |
129,443,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Itgb1
|
UTSW |
8 |
129,446,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Itgb1
|
UTSW |
8 |
129,442,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Itgb1
|
UTSW |
8 |
129,453,549 (GRCm39) |
splice site |
probably null |
|
|
R5935:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
nonsense |
probably null |
|
|
R6156:Itgb1
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6160:Itgb1
|
UTSW |
8 |
129,446,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6248:Itgb1
|
UTSW |
8 |
129,448,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6812:Itgb1
|
UTSW |
8 |
129,431,891 (GRCm39) |
splice site |
probably null |
|
|
R6869:Itgb1
|
UTSW |
8 |
129,446,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7249:Itgb1
|
UTSW |
8 |
129,446,885 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7496:Itgb1
|
UTSW |
8 |
129,446,786 (GRCm39) |
missense |
probably benign |
|
|
R7679:Itgb1
|
UTSW |
8 |
129,446,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Itgb1
|
UTSW |
8 |
129,453,499 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7800:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8015:Itgb1
|
UTSW |
8 |
129,448,882 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8687:Itgb1
|
UTSW |
8 |
129,442,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Itgb1
|
UTSW |
8 |
129,439,887 (GRCm39) |
intron |
probably benign |
|
|
R8979:Itgb1
|
UTSW |
8 |
129,448,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9243:Itgb1
|
UTSW |
8 |
129,433,587 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9389:Itgb1
|
UTSW |
8 |
129,433,637 (GRCm39) |
missense |
probably benign |
|
|
R9398:Itgb1
|
UTSW |
8 |
129,452,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Itgb1
|
UTSW |
8 |
129,439,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCATAATCAGGCCTTTGTG -3'
(R):5'- GGTTTCAGACTCCTTATTTGGAC -3'
Sequencing Primer
(F):5'- TGGCCTCGAACTCAGAAATCTACATG -3'
(R):5'- GCTAGTGCTTTAACTGCTAAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation