Incidental Mutation 'R3619:Foxi3'
| ID |
268557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxi3
|
| Ensembl Gene |
ENSMUSG00000055874 |
| Gene Name |
forkhead box I3 |
| Synonyms |
|
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
70933590-70938050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70934047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 178
(L178P)
|
| 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: L152P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065664
Gene: ENSMUSG00000055874
AA Change: L152P
| 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: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125380
Gene: ENSMUSG00000055874
AA Change: L178P
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
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 |
|
IGL01651:Foxi3
|
APN |
6 |
70,933,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCGTATACTCGCAGCCC -3'
(R):5'- TCTCAGGACCTATAAGTGCGCG -3'
Sequencing Primer
(F):5'- TACCTGTGGCTCAATGGGC -3'
(R):5'- ACCTATAAGTGCGCGGCTTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation