Incidental Mutation 'R0030:Foxi2'
| ID |
15319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxi2
|
| Ensembl Gene |
ENSMUSG00000048377 |
| Gene Name |
forkhead box I2 |
| Synonyms |
B130055A05Rik |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
135012096-135015351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135013345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060356]
|
| AlphaFold |
Q3I5G5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060356
AA Change: T192A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053641
Gene: ENSMUSG00000048377
AA Change: T192A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
108 |
N/A |
INTRINSIC |
|
FH
|
115 |
205 |
1.29e-58 |
SMART |
|
low complexity region
|
207 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
278 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2940 |
| Coding Region Coverage |
- 1x: 78.5%
- 3x: 68.6%
- 10x: 42.5%
- 20x: 22.6%
|
| Validation Efficiency |
97% (72/74) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
C |
6: 140,583,473 (GRCm39) |
S316R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,822,456 (GRCm39) |
S1250P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,269,762 (GRCm39) |
E617* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,951,357 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,065,798 (GRCm39) |
Q691* |
probably null |
Het |
| Crip1 |
G |
A |
12: 113,116,996 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,451,663 (GRCm39) |
D4367V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,789,512 (GRCm39) |
V1514A |
possibly damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Faap24 |
A |
T |
7: 35,092,285 (GRCm39) |
F211I |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,502,237 (GRCm39) |
Y464N |
probably damaging |
Het |
| Gm7298 |
T |
A |
6: 121,751,009 (GRCm39) |
F695L |
probably benign |
Het |
| Ifnk |
T |
G |
4: 35,152,489 (GRCm39) |
V139G |
probably benign |
Het |
| Kif18a |
A |
T |
2: 109,163,663 (GRCm39) |
I671L |
probably benign |
Het |
| Lcn10 |
T |
C |
2: 25,575,093 (GRCm39) |
F154L |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Mmp23 |
G |
A |
4: 155,735,768 (GRCm39) |
R268* |
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,519,531 (GRCm39) |
D298G |
possibly damaging |
Het |
| Myh7 |
T |
A |
14: 55,229,427 (GRCm39) |
T124S |
probably benign |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,627,999 (GRCm39) |
C153* |
probably null |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
A |
G |
10: 39,952,819 (GRCm39) |
V225A |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,764 (GRCm39) |
S52P |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,397,529 (GRCm39) |
V381A |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,937,482 (GRCm39) |
K1189E |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,280,170 (GRCm39) |
H151N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,554,854 (GRCm39) |
T3544M |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,744 (GRCm39) |
H365R |
probably benign |
Het |
|
| Other mutations in Foxi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:Foxi2
|
APN |
7 |
135,013,736 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02984:Foxi2
|
UTSW |
7 |
135,012,127 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0030:Foxi2
|
UTSW |
7 |
135,013,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0121:Foxi2
|
UTSW |
7 |
135,013,640 (GRCm39) |
missense |
probably benign |
|
|
R0830:Foxi2
|
UTSW |
7 |
135,013,459 (GRCm39) |
missense |
probably benign |
|
|
R2059:Foxi2
|
UTSW |
7 |
135,012,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Foxi2
|
UTSW |
7 |
135,012,180 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3616:Foxi2
|
UTSW |
7 |
135,012,180 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4021:Foxi2
|
UTSW |
7 |
135,012,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Foxi2
|
UTSW |
7 |
135,012,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Foxi2
|
UTSW |
7 |
135,013,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:Foxi2
|
UTSW |
7 |
135,012,256 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5258:Foxi2
|
UTSW |
7 |
135,012,256 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5561:Foxi2
|
UTSW |
7 |
135,013,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Foxi2
|
UTSW |
7 |
135,013,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5667:Foxi2
|
UTSW |
7 |
135,012,668 (GRCm39) |
splice site |
probably null |
|
|
R7492:Foxi2
|
UTSW |
7 |
135,012,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8726:Foxi2
|
UTSW |
7 |
135,012,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9205:Foxi2
|
UTSW |
7 |
135,013,525 (GRCm39) |
missense |
probably benign |
|
|
R9644:Foxi2
|
UTSW |
7 |
135,013,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Foxi2
|
UTSW |
7 |
135,013,687 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Foxi2
|
UTSW |
7 |
135,012,144 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Posted On |
2012-12-17 |
Incidental Mutation