Incidental Mutation 'R4500:Duxf4'
| ID |
331790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duxf4
|
| Ensembl Gene |
ENSMUSG00000075045 |
| Gene Name |
double homeobox family member 4 |
| Synonyms |
Gm4981, Duxf4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58070670-58072482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58071528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 229
(A229T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099726]
[ENSMUST00000174056]
[ENSMUST00000176875]
|
| AlphaFold |
Q3ULJ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099726
AA Change: A229T
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097314
Gene: ENSMUSG00000075045
AA Change: A229T
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
5 |
67 |
1.13e-11 |
SMART |
|
internal_repeat_1
|
86 |
173 |
1.27e-12 |
PROSPERO |
|
internal_repeat_1
|
177 |
264 |
1.27e-12 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174056
|
| SMART Domains |
Protein: ENSMUSP00000133909
Gene: ENSMUSG00000075046
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
2 |
58 |
9.45e-5 |
SMART |
|
HOX
|
90 |
152 |
8.78e-23 |
SMART |
|
internal_repeat_1
|
172 |
207 |
1.03e-13 |
PROSPERO |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
264 |
299 |
1.03e-13 |
PROSPERO |
|
low complexity region
|
303 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176875
|
| SMART Domains |
Protein: ENSMUSP00000145004
Gene: ENSMUSG00000075046
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
18 |
80 |
1.7e-13 |
SMART |
|
HOX
|
112 |
174 |
1.6e-23 |
SMART |
|
internal_repeat_1
|
194 |
371 |
2.07e-48 |
PROSPERO |
|
low complexity region
|
416 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
468 |
645 |
2.07e-48 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
probably damaging |
Het |
|
| Other mutations in Duxf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Duxf4
|
APN |
10 |
58,072,211 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
IGL03267:Duxf4
|
APN |
10 |
58,071,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0021:Duxf4
|
UTSW |
10 |
58,071,385 (GRCm39) |
missense |
probably benign |
|
|
R0582:Duxf4
|
UTSW |
10 |
58,071,508 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1857:Duxf4
|
UTSW |
10 |
58,071,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Duxf4
|
UTSW |
10 |
58,071,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Duxf4
|
UTSW |
10 |
58,071,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1984:Duxf4
|
UTSW |
10 |
58,071,785 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2115:Duxf4
|
UTSW |
10 |
58,072,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2197:Duxf4
|
UTSW |
10 |
58,072,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3014:Duxf4
|
UTSW |
10 |
58,071,356 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3412:Duxf4
|
UTSW |
10 |
58,072,175 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3983:Duxf4
|
UTSW |
10 |
58,071,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4939:Duxf4
|
UTSW |
10 |
58,071,425 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5460:Duxf4
|
UTSW |
10 |
58,071,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6228:Duxf4
|
UTSW |
10 |
58,071,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8282:Duxf4
|
UTSW |
10 |
58,072,148 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9051:Duxf4
|
UTSW |
10 |
58,071,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Duxf4
|
UTSW |
10 |
58,071,378 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Duxf4
|
UTSW |
10 |
58,071,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGTCAGGGAGTCAGAGC -3'
(R):5'- AAAGAGCATGTGCCAGACC -3'
Sequencing Primer
(F):5'- TACTGTCAGGGAGTCAGAGCATATC -3'
(R):5'- AGCATGTGCCAGACCCTTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation