Incidental Mutation 'R4067:Itfg2'
| ID |
316167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itfg2
|
| Ensembl Gene |
ENSMUSG00000001518 |
| Gene Name |
integrin alpha FG-GAP repeat containing 2 |
| Synonyms |
2700050P07Rik |
| MMRRC Submission |
040853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128386407-128401873 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 128387413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000001561]
[ENSMUST00000120405]
[ENSMUST00000123867]
[ENSMUST00000142615]
[ENSMUST00000203853]
[ENSMUST00000204836]
[ENSMUST00000203026]
[ENSMUST00000203374]
[ENSMUST00000204223]
|
| AlphaFold |
Q91WI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001559
|
| SMART Domains |
Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
| 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: 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 |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
21 |
350 |
1.3e-147 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203984
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
A |
1: 151,769,150 (GRCm39) |
T121S |
possibly damaging |
Het |
| 4930503E14Rik |
T |
C |
14: 44,406,641 (GRCm39) |
E136G |
probably damaging |
Het |
| Adgrg4 |
A |
G |
X: 56,005,320 (GRCm39) |
N2527S |
probably damaging |
Het |
| Ak1 |
G |
A |
2: 32,519,593 (GRCm39) |
S7N |
probably benign |
Het |
| Aktip |
A |
C |
8: 91,852,466 (GRCm39) |
I230R |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,598,271 (GRCm39) |
I1032M |
probably damaging |
Het |
| Asb4 |
T |
A |
6: 5,423,651 (GRCm39) |
V266E |
probably damaging |
Het |
| Bace1 |
G |
A |
9: 45,765,962 (GRCm39) |
V130M |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,291,744 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
T |
C |
17: 29,040,233 (GRCm39) |
S885P |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,750,202 (GRCm39) |
I1742F |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,909,586 (GRCm39) |
I415N |
probably damaging |
Het |
| Cybc1 |
A |
T |
11: 121,115,528 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Enam |
A |
G |
5: 88,651,236 (GRCm39) |
Y840C |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,425,442 (GRCm39) |
C416S |
probably damaging |
Het |
| Fgf20 |
A |
T |
8: 40,732,896 (GRCm39) |
S181T |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,737,147 (GRCm39) |
L1295R |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm9989 |
T |
C |
3: 81,829,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc4 |
A |
T |
15: 63,765,736 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,198,772 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,643 (GRCm39) |
M114K |
probably benign |
Het |
| Il22b |
T |
C |
10: 118,126,115 (GRCm39) |
I161V |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,995,774 (GRCm39) |
Q387* |
probably null |
Het |
| Klk1 |
C |
T |
7: 43,876,968 (GRCm39) |
R24* |
probably null |
Het |
| Klra7 |
T |
C |
6: 130,208,612 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,782 (GRCm39) |
N213S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,167,185 (GRCm39) |
Y102F |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,431 (GRCm39) |
C110* |
probably null |
Het |
| Otof |
C |
T |
5: 30,556,635 (GRCm39) |
G282D |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,367 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
T |
1: 105,515,703 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
A |
1: 133,222,416 (GRCm39) |
E1001K |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Pudp |
A |
G |
18: 50,701,329 (GRCm39) |
F135L |
probably benign |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Rel |
A |
C |
11: 23,703,215 (GRCm39) |
|
probably null |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Slc30a1 |
G |
C |
1: 191,639,401 (GRCm39) |
A95P |
probably damaging |
Het |
| Slc47a2 |
T |
C |
11: 61,194,773 (GRCm39) |
T469A |
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 61,876,989 (GRCm39) |
M1L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,703 (GRCm39) |
D445V |
probably damaging |
Het |
| Slc9a7 |
C |
T |
X: 20,071,793 (GRCm39) |
G113R |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,712 (GRCm39) |
D440V |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stk26 |
A |
G |
X: 49,977,910 (GRCm39) |
E317G |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,355 (GRCm39) |
Y506* |
probably null |
Het |
| Trhde |
T |
A |
10: 114,280,585 (GRCm39) |
R848* |
probably null |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Usp24 |
C |
T |
4: 106,216,286 (GRCm39) |
T379M |
possibly damaging |
Het |
| Zfp783 |
A |
T |
6: 47,922,499 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTCATGGATCGCTCTGG -3'
(R):5'- CAACAGTCCCTGCTTGGTATATG -3'
Sequencing Primer
(F):5'- CATGGATCGCTCTGGGGTAG -3'
(R):5'- GCTTGGTATATGTCACCTTCAATCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation