Incidental Mutation 'IGL01651:Foxi3'
| ID |
102840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxi3
|
| Ensembl Gene |
ENSMUSG00000055874 |
| Gene Name |
forkhead box I3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
70933590-70938050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70933975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 154
(V154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069634]
[ENSMUST00000163089]
|
| AlphaFold |
E0CZH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069634
AA Change: V128A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065664
Gene: ENSMUSG00000055874
AA Change: V128A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
FH
|
127 |
217 |
3.32e-61 |
SMART |
|
low complexity region
|
219 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163089
AA Change: V154A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125380
Gene: ENSMUSG00000055874
AA Change: V154A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
137 |
N/A |
INTRINSIC |
|
FH
|
153 |
243 |
3.32e-61 |
SMART |
|
low complexity region
|
245 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice start dying after E9.5. Those born die neonatally, lack a mouth and whiskers, and show branchial arch-derived skeletal defects, including a reduced mandible, total absence of inner, middle and external ear structures, and increased cranial neural crest cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
| Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
| Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
| Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
| Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
| Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
| Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
| Other mutations in Foxi3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Foxi3
|
APN |
6 |
70,937,729 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0362:Foxi3
|
UTSW |
6 |
70,933,612 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0528:Foxi3
|
UTSW |
6 |
70,934,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Foxi3
|
UTSW |
6 |
70,937,794 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3619:Foxi3
|
UTSW |
6 |
70,934,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Foxi3
|
UTSW |
6 |
70,933,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4926:Foxi3
|
UTSW |
6 |
70,933,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Foxi3
|
UTSW |
6 |
70,937,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Foxi3
|
UTSW |
6 |
70,937,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7110:Foxi3
|
UTSW |
6 |
70,937,730 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7341:Foxi3
|
UTSW |
6 |
70,937,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7923:Foxi3
|
UTSW |
6 |
70,937,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8176:Foxi3
|
UTSW |
6 |
70,934,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Foxi3
|
UTSW |
6 |
70,937,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9044:Foxi3
|
UTSW |
6 |
70,934,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9044:Foxi3
|
UTSW |
6 |
70,933,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Foxi3
|
UTSW |
6 |
70,937,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF007:Foxi3
|
UTSW |
6 |
70,937,845 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1176:Foxi3
|
UTSW |
6 |
70,933,782 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2014-01-21 |
Incidental Mutation