Incidental Mutation 'R3014:Duxf4'
| ID |
257606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Duxf4
|
| Ensembl Gene |
ENSMUSG00000075045 |
| Gene Name |
double homeobox family member 4 |
| Synonyms |
Gm4981, Duxf4 |
| MMRRC Submission |
040535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58070670-58072482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58071356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 286
(T286I)
|
| 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: T286I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097314
Gene: ENSMUSG00000075045
AA Change: T286I
| 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: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
| Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,288 (GRCm39) |
D662V |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,002,768 (GRCm39) |
V245E |
probably damaging |
Het |
| Hmces |
T |
G |
6: 87,894,823 (GRCm39) |
D62E |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kng1 |
C |
T |
16: 22,898,120 (GRCm39) |
H507Y |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
| Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
| Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
| Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
| Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
| Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
| Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
| Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
| Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
| Sv2a |
G |
A |
3: 96,096,751 (GRCm39) |
W416* |
probably null |
Het |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
| Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
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 |
|
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 |
|
R4500:Duxf4
|
UTSW |
10 |
58,071,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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'- CCATCCTTATAGTTAGCAAGACACC -3'
(R):5'- TCAACCTTGTGCAGAGAGTCC -3'
Sequencing Primer
(F):5'- ACACCTTGCATTTCGGGAAG -3'
(R):5'- TTCCCAAGTGGCACAGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation