Incidental Mutation 'IGL02088:Itfg2'
ID |
279315 |
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 # |
IGL02088
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
128386407-128401873 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128388569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 306
(V306A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000001561]
[ENSMUST00000120405]
[ENSMUST00000123867]
[ENSMUST00000142615]
[ENSMUST00000203374]
[ENSMUST00000204836]
[ENSMUST00000204223]
[ENSMUST00000203026]
[ENSMUST00000203853]
|
AlphaFold |
Q91WI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001559
AA Change: V338A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000001559 Gene: ENSMUSG00000001518 AA Change: V338A
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 |
probably benign
Transcript: ENSMUST00000123867
|
SMART Domains |
Protein: ENSMUSP00000122558 Gene: ENSMUSG00000001520
Domain | Start | End | E-Value | Type |
Pfam:Asp_protease
|
105 |
218 |
4.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142615
AA Change: V338A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000145111 Gene: ENSMUSG00000001518 AA Change: V338A
Domain | Start | End | E-Value | Type |
Pfam:Itfg2
|
49 |
358 |
1e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203374
AA Change: V306A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000145323 Gene: ENSMUSG00000001518 AA Change: V306A
Domain | Start | End | E-Value | Type |
Pfam:Itfg2
|
21 |
350 |
1.3e-147 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203195
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204223
|
SMART Domains |
Protein: ENSMUSP00000145012 Gene: ENSMUSG00000108011
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
low complexity region
|
190 |
201 |
N/A |
INTRINSIC |
|
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: 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: ENSMUST00000147155
|
SMART Domains |
Protein: ENSMUSP00000122305 Gene: ENSMUSG00000001520
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Itfg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |