Incidental Mutation 'R3934:Itgb6'
| ID |
306926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb6
|
| Ensembl Gene |
ENSMUSG00000026971 |
| Gene Name |
integrin beta 6 |
| Synonyms |
4831415H04Rik, 2210409C20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.728)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
60428636-60552987 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60441755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 685
(T685M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028348]
[ENSMUST00000059888]
[ENSMUST00000112517]
[ENSMUST00000154764]
|
| AlphaFold |
Q9Z0T9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028348
AA Change: T685M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: T685M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PSI
|
22 |
71 |
2.19e-9 |
SMART |
|
INB
|
30 |
454 |
1.84e-277 |
SMART |
|
VWA
|
132 |
365 |
1.11e-1 |
SMART |
|
internal_repeat_1
|
484 |
538 |
1.59e-8 |
PROSPERO |
|
EGF_like
|
543 |
575 |
6.15e1 |
SMART |
|
Integrin_B_tail
|
624 |
706 |
1.07e-19 |
SMART |
|
Integrin_b_cyt
|
730 |
776 |
7.82e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059888
AA Change: T685M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: T685M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PSI
|
22 |
71 |
2.19e-9 |
SMART |
|
INB
|
30 |
454 |
1.84e-277 |
SMART |
|
VWA
|
132 |
365 |
1.11e-1 |
SMART |
|
internal_repeat_1
|
484 |
538 |
1.59e-8 |
PROSPERO |
|
EGF_like
|
543 |
575 |
6.15e1 |
SMART |
|
Integrin_B_tail
|
624 |
706 |
1.07e-19 |
SMART |
|
Integrin_b_cyt
|
730 |
776 |
7.82e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112517
AA Change: T685M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: T685M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PSI
|
22 |
71 |
2.19e-9 |
SMART |
|
INB
|
30 |
454 |
1.84e-277 |
SMART |
|
VWA
|
132 |
365 |
1.11e-1 |
SMART |
|
internal_repeat_1
|
484 |
538 |
1.81e-8 |
PROSPERO |
|
EGF_like
|
543 |
575 |
6.15e1 |
SMART |
|
Integrin_B_tail
|
624 |
706 |
1.07e-19 |
SMART |
|
Integrin_b_cyt
|
730 |
759 |
2.38e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154764
AA Change: T685M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: T685M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PSI
|
22 |
71 |
2.19e-9 |
SMART |
|
INB
|
30 |
454 |
1.84e-277 |
SMART |
|
VWA
|
132 |
365 |
1.11e-1 |
SMART |
|
internal_repeat_1
|
484 |
538 |
1.62e-8 |
PROSPERO |
|
EGF_like
|
543 |
575 |
6.15e1 |
SMART |
|
Integrin_B_tail
|
624 |
706 |
1.07e-19 |
SMART |
|
Integrin_b_cyt
|
730 |
755 |
2.3e0 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
probably damaging |
Het |
|
| Other mutations in Itgb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Itgb6
|
APN |
2 |
60,450,696 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01363:Itgb6
|
APN |
2 |
60,441,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01810:Itgb6
|
APN |
2 |
60,458,329 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02026:Itgb6
|
APN |
2 |
60,458,410 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02347:Itgb6
|
APN |
2 |
60,441,756 (GRCm39) |
missense |
probably benign |
|
|
R0372:Itgb6
|
UTSW |
2 |
60,458,185 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0533:Itgb6
|
UTSW |
2 |
60,499,541 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0542:Itgb6
|
UTSW |
2 |
60,435,480 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1037:Itgb6
|
UTSW |
2 |
60,480,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Itgb6
|
UTSW |
2 |
60,483,481 (GRCm39) |
splice site |
probably null |
|
|
R1775:Itgb6
|
UTSW |
2 |
60,502,988 (GRCm39) |
nonsense |
probably null |
|
|
R1802:Itgb6
|
UTSW |
2 |
60,483,625 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1934:Itgb6
|
UTSW |
2 |
60,499,493 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2847:Itgb6
|
UTSW |
2 |
60,430,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Itgb6
|
UTSW |
2 |
60,450,706 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6255:Itgb6
|
UTSW |
2 |
60,435,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6571:Itgb6
|
UTSW |
2 |
60,458,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Itgb6
|
UTSW |
2 |
60,480,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7010:Itgb6
|
UTSW |
2 |
60,480,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Itgb6
|
UTSW |
2 |
60,464,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7259:Itgb6
|
UTSW |
2 |
60,480,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Itgb6
|
UTSW |
2 |
60,435,650 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7491:Itgb6
|
UTSW |
2 |
60,450,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7532:Itgb6
|
UTSW |
2 |
60,499,557 (GRCm39) |
missense |
probably benign |
|
|
R7861:Itgb6
|
UTSW |
2 |
60,458,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Itgb6
|
UTSW |
2 |
60,480,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8795:Itgb6
|
UTSW |
2 |
60,483,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Itgb6
|
UTSW |
2 |
60,458,324 (GRCm39) |
nonsense |
probably null |
|
|
R8933:Itgb6
|
UTSW |
2 |
60,458,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Itgb6
|
UTSW |
2 |
60,485,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9450:Itgb6
|
UTSW |
2 |
60,458,372 (GRCm39) |
missense |
probably benign |
|
|
X0018:Itgb6
|
UTSW |
2 |
60,503,010 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1088:Itgb6
|
UTSW |
2 |
60,450,555 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:Itgb6
|
UTSW |
2 |
60,441,812 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACACAGCAACAGCTTTAATG -3'
(R):5'- TTCCCATTCGACAGAATTGCC -3'
Sequencing Primer
(F):5'- CAGCAACAGCTTTAATGGGATC -3'
(R):5'- TCCCATTCGACAGAATTGCCAATTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation