Incidental Mutation 'IGL02111:Itfg2'
| ID |
280163 |
| 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: 0.126)
|
| Stock # |
IGL02111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128386407-128401873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128387344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 422
(H422R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000001561]
[ENSMUST00000120405]
[ENSMUST00000123867]
[ENSMUST00000142615]
[ENSMUST00000203374]
[ENSMUST00000204836]
[ENSMUST00000203853]
[ENSMUST00000203026]
[ENSMUST00000204223]
|
| AlphaFold |
Q91WI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001559
AA Change: H422R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: H422R
| 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: ENSMUST00000136631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142615
|
| SMART Domains |
Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
358 |
1e-139 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203374
AA Change: H390R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: H390R
| 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 |
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: ENSMUST00000203984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203195
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000204362
|
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
| Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
| Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
| Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
| Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,836,725 (GRCm39) |
T92I |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,705,045 (GRCm39) |
|
probably null |
Het |
| Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
| Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
| Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
| Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
| Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
| Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
| Tecrl |
T |
A |
5: 83,502,639 (GRCm39) |
Q70L |
probably damaging |
Het |
| Tedc2 |
A |
T |
17: 24,437,140 (GRCm39) |
|
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
| Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
| Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
| Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
| Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
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 |
|
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 |
Incidental Mutation