Incidental Mutation 'R8365:Foxn3'
| ID |
646151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxn3
|
| Ensembl Gene |
ENSMUSG00000033713 |
| Gene Name |
forkhead box N3 |
| Synonyms |
Ches1l, Ches1, 5430426H20Rik, HTLFL1 |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
99156337-99529841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99307727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 204
(K204E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046859]
[ENSMUST00000085108]
[ENSMUST00000177269]
[ENSMUST00000177451]
|
| AlphaFold |
Q499D0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046859
AA Change: K204E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036035
Gene: ENSMUSG00000033713
AA Change: K204E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
FH
|
112 |
204 |
2.48e-51 |
SMART |
|
low complexity region
|
308 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085108
AA Change: K204E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082189
Gene: ENSMUSG00000033713
AA Change: K204E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
FH
|
112 |
204 |
2.48e-51 |
SMART |
|
low complexity region
|
308 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177269
|
| SMART Domains |
Protein: ENSMUSP00000135814
Gene: ENSMUSG00000033713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
FH
|
112 |
191 |
8.41e-40 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177451
AA Change: K204E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135082
Gene: ENSMUSG00000033713
AA Change: K204E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
FH
|
112 |
204 |
2.48e-51 |
SMART |
|
low complexity region
|
308 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Hypomorphic homozygous knockout affects the expression of osteogenic genes and leads to craniofacial abnormalities and reduces pre- and postnatal survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
probably damaging |
Het |
|
| Other mutations in Foxn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Foxn3
|
APN |
12 |
99,162,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0521:Foxn3
|
UTSW |
12 |
99,175,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:Foxn3
|
UTSW |
12 |
99,162,815 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4094:Foxn3
|
UTSW |
12 |
99,162,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4095:Foxn3
|
UTSW |
12 |
99,162,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Foxn3
|
UTSW |
12 |
99,162,687 (GRCm39) |
nonsense |
probably null |
|
|
R6207:Foxn3
|
UTSW |
12 |
99,162,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Foxn3
|
UTSW |
12 |
99,354,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Foxn3
|
UTSW |
12 |
99,354,952 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6379:Foxn3
|
UTSW |
12 |
99,162,537 (GRCm39) |
missense |
probably benign |
|
|
R7443:Foxn3
|
UTSW |
12 |
99,355,038 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7741:Foxn3
|
UTSW |
12 |
99,162,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Foxn3
|
UTSW |
12 |
99,355,161 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R8390:Foxn3
|
UTSW |
12 |
99,355,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8811:Foxn3
|
UTSW |
12 |
99,162,951 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9085:Foxn3
|
UTSW |
12 |
99,355,095 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9581:Foxn3
|
UTSW |
12 |
99,163,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9594:Foxn3
|
UTSW |
12 |
99,359,294 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Foxn3
|
UTSW |
12 |
99,354,856 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTGCCTCCTCATCAGAC -3'
(R):5'- GTCAGCCTGAGAAATCATTAGC -3'
Sequencing Primer
(F):5'- ATGTGCCTCCTCATCAGACTTAATTC -3'
(R):5'- CAGCCTGAGAAATCATTAGCAAATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation