Incidental Mutation 'IGL02337:Itfg2'
| ID |
288894 |
| 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 # |
IGL02337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128386407-128401873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128390533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 184
(D184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000001561]
[ENSMUST00000120405]
[ENSMUST00000142615]
[ENSMUST00000203026]
[ENSMUST00000203374]
[ENSMUST00000203853]
[ENSMUST00000204836]
|
| AlphaFold |
Q91WI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001559
AA Change: D216G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
382 |
1e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001561
|
| SMART Domains |
Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
88 |
203 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120405
|
| SMART Domains |
Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
88 |
202 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142615
AA Change: D216G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
358 |
1e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203026
|
| SMART Domains |
Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
130 |
3.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203374
AA Change: D184G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: D184G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
21 |
350 |
1.3e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203853
|
| SMART Domains |
Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
85 |
3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204836
|
| SMART Domains |
Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
28 |
141 |
8.9e-6 |
PFAM |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
| Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
| Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
| Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
| Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
| Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
| Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
| Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
| Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
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 |
|
IGL02611:Itfg2
|
APN |
6 |
128,401,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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