Incidental Mutation 'R2243:Foxb1'
| ID |
240732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxb1
|
| Ensembl Gene |
ENSMUSG00000059246 |
| Gene Name |
forkhead box B1 |
| Synonyms |
C43, Hfh-e5.1, TWH, Foxb1a, Foxb1b, Fkh5, Mf3 |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.614)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
69664992-69668222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69667146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 128
(Y128C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071281]
|
| AlphaFold |
Q64732 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071281
AA Change: Y128C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096197
Gene: ENSMUSG00000059246
AA Change: Y128C
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
11 |
101 |
6.75e-62 |
SMART |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180914
|
| Meta Mutation Damage Score |
0.1553 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Targeted null mutant mice show variable embryonic lethality with neural tube defects or severe posterior reduction. Survivors have high postnatal mortality, reduced growth, motor weakness, midbrain abnormalities and females have a lactational defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Foxb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Foxb1
|
APN |
9 |
69,667,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Foxb1
|
APN |
9 |
69,666,550 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02153:Foxb1
|
APN |
9 |
69,666,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4514001:Foxb1
|
UTSW |
9 |
69,667,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Foxb1
|
UTSW |
9 |
69,666,844 (GRCm39) |
missense |
probably benign |
|
|
R1618:Foxb1
|
UTSW |
9 |
69,667,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1624:Foxb1
|
UTSW |
9 |
69,666,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1665:Foxb1
|
UTSW |
9 |
69,667,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Foxb1
|
UTSW |
9 |
69,667,383 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4913:Foxb1
|
UTSW |
9 |
69,666,859 (GRCm39) |
missense |
probably benign |
|
|
R4925:Foxb1
|
UTSW |
9 |
69,667,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Foxb1
|
UTSW |
9 |
69,667,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Foxb1
|
UTSW |
9 |
69,667,528 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R7540:Foxb1
|
UTSW |
9 |
69,667,141 (GRCm39) |
nonsense |
probably null |
|
|
R9369:Foxb1
|
UTSW |
9 |
69,666,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATGGTAGTTAACTGGTTAG -3'
(R):5'- TTCATCAAGATCCCGAGGCG -3'
Sequencing Primer
(F):5'- ATAGGCAGCCGGAACCG -3'
(R):5'- GATCCCGAGGCGGCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation