Incidental Mutation 'IGL02611:Itfg2'
| ID |
300469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itfg2
|
| Ensembl Gene |
ENSMUSG00000001518 |
| Gene Name |
integrin alpha FG-GAP repeat containing 2 |
| Synonyms |
2700050P07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL02611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128386407-128401873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128401688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 30
(N30I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000142615]
[ENSMUST00000203026]
[ENSMUST00000203374]
[ENSMUST00000203853]
|
| AlphaFold |
Q91WI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001559
AA Change: N30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: N30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
382 |
1e-158 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133994
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142615
AA Change: N30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
AA Change: N30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
358 |
1e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203026
AA Change: N30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518
AA Change: N30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
130 |
3.9e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203374
AA Change: N30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: N30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
21 |
350 |
1.3e-147 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203853
AA Change: N30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518
AA Change: N30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
85 |
3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204467
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal B cell differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chac1 |
T |
A |
2: 119,183,934 (GRCm39) |
Y179N |
probably damaging |
Het |
| Cyp2c37 |
T |
G |
19: 39,982,309 (GRCm39) |
F103L |
probably benign |
Het |
| Dmp1 |
A |
T |
5: 104,360,380 (GRCm39) |
D352V |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,963,075 (GRCm39) |
I443T |
probably benign |
Het |
| Furin |
G |
A |
7: 80,041,526 (GRCm39) |
A544V |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,411,450 (GRCm39) |
M260T |
probably damaging |
Het |
| Gm17654 |
G |
A |
14: 43,816,462 (GRCm39) |
T47I |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,333,941 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,950,128 (GRCm39) |
L1977H |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,551 (GRCm39) |
F779L |
possibly damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,010,080 (GRCm39) |
Y1160C |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,701 (GRCm39) |
S401I |
probably damaging |
Het |
| Or2ag1b |
G |
T |
7: 106,287,996 (GRCm39) |
T314K |
probably benign |
Het |
| Or52n20 |
A |
T |
7: 104,320,614 (GRCm39) |
D235V |
possibly damaging |
Het |
| Pcdh8 |
C |
T |
14: 80,005,107 (GRCm39) |
V876I |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,647 (GRCm39) |
S633P |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,716 (GRCm39) |
R239Q |
probably benign |
Het |
| St18 |
T |
A |
1: 6,839,114 (GRCm39) |
|
probably benign |
Het |
| Syt2 |
G |
A |
1: 134,669,620 (GRCm39) |
C87Y |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,131,967 (GRCm39) |
T2300A |
probably damaging |
Het |
|
| Other mutations in Itfg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Itfg2
|
APN |
6 |
128,388,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02111:Itfg2
|
APN |
6 |
128,387,344 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02337:Itfg2
|
APN |
6 |
128,390,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
pocket
|
UTSW |
6 |
128,388,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sponge
|
UTSW |
6 |
128,393,279 (GRCm39) |
intron |
probably benign |
|
|
teatotaler
|
UTSW |
6 |
128,388,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Itfg2
|
UTSW |
6 |
128,390,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1462:Itfg2
|
UTSW |
6 |
128,401,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Itfg2
|
UTSW |
6 |
128,401,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2960:Itfg2
|
UTSW |
6 |
128,390,515 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3110:Itfg2
|
UTSW |
6 |
128,388,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Itfg2
|
UTSW |
6 |
128,388,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Itfg2
|
UTSW |
6 |
128,387,413 (GRCm39) |
intron |
probably benign |
|
|
R4866:Itfg2
|
UTSW |
6 |
128,393,279 (GRCm39) |
intron |
probably benign |
|
|
R4900:Itfg2
|
UTSW |
6 |
128,393,279 (GRCm39) |
intron |
probably benign |
|
|
R6623:Itfg2
|
UTSW |
6 |
128,388,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Itfg2
|
UTSW |
6 |
128,388,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Itfg2
|
UTSW |
6 |
128,393,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Itfg2
|
UTSW |
6 |
128,387,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7660:Itfg2
|
UTSW |
6 |
128,401,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7884:Itfg2
|
UTSW |
6 |
128,393,344 (GRCm39) |
intron |
probably benign |
|
|
R8750:Itfg2
|
UTSW |
6 |
128,389,755 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8862:Itfg2
|
UTSW |
6 |
128,394,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Itfg2
|
UTSW |
6 |
128,401,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Itfg2
|
UTSW |
6 |
128,389,950 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation