Incidental Mutation 'RF021:Diexf'
| ID |
603860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Diexf
|
| Ensembl Gene |
ENSMUSG00000016181 |
| Gene Name |
digestive organ expansion factor homolog (zebrafish) |
| Synonyms |
AA408296 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
RF021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
193091104-193130272 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 193120666 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 248
(F248L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000193460]
[ENSMUST00000195291]
[ENSMUST00000195848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085555
AA Change: F248L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: F248L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
224 |
N/A |
INTRINSIC |
|
Pfam:UTP25
|
288 |
763 |
6.1e-200 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193460
|
| SMART Domains |
Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1253
|
1 |
205 |
6.8e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195291
AA Change: F248L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: F248L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
224 |
N/A |
INTRINSIC |
|
Pfam:DUF1253
|
325 |
634 |
6.9e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195848
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,050,748 (GRCm38) |
|
probably benign |
Het |
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,913,569 (GRCm38) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,425,234 (GRCm38) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,778,312 (GRCm38) |
H79R |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,182,629 (GRCm38) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,642,473 (GRCm38) |
V224A |
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,259,338 (GRCm38) |
A515V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 27,035,360 (GRCm38) |
F402S |
possibly damaging |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,485,832 (GRCm38) |
|
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,777,907 (GRCm38) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,573 (GRCm38) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,874,773 (GRCm38) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,694,940 (GRCm38) |
|
probably benign |
Het |
| Gm6614 |
A |
T |
6: 142,008,714 (GRCm38) |
V31E |
probably damaging |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,364,324 (GRCm38) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,392,392 (GRCm38) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 112,941,688 (GRCm38) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,035,507 (GRCm38) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,803,865 (GRCm38) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,978,239 (GRCm38) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,870,830 (GRCm38) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,586,357 (GRCm38) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,710,608 (GRCm38) |
T912A |
probably damaging |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 93,018,295 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 93,018,269 (GRCm38) |
|
probably benign |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,981,676 (GRCm38) |
|
probably null |
Het |
| Med12l |
T |
C |
3: 59,073,290 (GRCm38) |
F359S |
probably benign |
Het |
| Mut |
A |
G |
17: 40,951,758 (GRCm38) |
I444V |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,149,109 (GRCm38) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,421,756 (GRCm38) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 94,476,888 (GRCm38) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,772,309 (GRCm38) |
D190G |
probably damaging |
Het |
| Olfr229 |
A |
T |
9: 39,910,045 (GRCm38) |
M81L |
probably benign |
Het |
| Olfr769 |
A |
T |
10: 129,112,342 (GRCm38) |
F28I |
probably damaging |
Het |
| Pramef25 |
C |
G |
4: 143,948,908 (GRCm38) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,808,756 (GRCm38) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 156,096,106 (GRCm38) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 31,227,841 (GRCm38) |
H660Y |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,630,997 (GRCm38) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 139,212,250 (GRCm38) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 24,050,423 (GRCm38) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 30,224,346 (GRCm38) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,203 (GRCm38) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm38) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,783,234 (GRCm38) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,144,203 (GRCm38) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,748,634 (GRCm38) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,335,316 (GRCm38) |
|
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,438,209 (GRCm38) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,711,587 (GRCm38) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,781,236 (GRCm38) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,302,652 (GRCm38) |
N63K |
possibly damaging |
Het |
|
| Other mutations in Diexf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Diexf
|
APN |
1 |
193,115,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01700:Diexf
|
APN |
1 |
193,118,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02076:Diexf
|
APN |
1 |
193,130,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02121:Diexf
|
APN |
1 |
193,118,278 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02666:Diexf
|
APN |
1 |
193,107,596 (GRCm38) |
nonsense |
probably null |
|
|
IGL02997:Diexf
|
APN |
1 |
193,120,584 (GRCm38) |
missense |
probably benign |
0.34 |
|
3-1:Diexf
|
UTSW |
1 |
193,118,280 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0099:Diexf
|
UTSW |
1 |
193,128,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0395:Diexf
|
UTSW |
1 |
193,123,676 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0502:Diexf
|
UTSW |
1 |
193,114,828 (GRCm38) |
splice site |
probably benign |
|
|
R0973:Diexf
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0973:Diexf
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0974:Diexf
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1815:Diexf
|
UTSW |
1 |
193,118,283 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1930:Diexf
|
UTSW |
1 |
193,118,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1931:Diexf
|
UTSW |
1 |
193,118,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Diexf
|
UTSW |
1 |
193,122,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2847:Diexf
|
UTSW |
1 |
193,128,451 (GRCm38) |
missense |
probably benign |
0.41 |
|
R2848:Diexf
|
UTSW |
1 |
193,128,451 (GRCm38) |
missense |
probably benign |
0.41 |
|
R3412:Diexf
|
UTSW |
1 |
193,128,502 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3414:Diexf
|
UTSW |
1 |
193,128,502 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4471:Diexf
|
UTSW |
1 |
193,130,137 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4627:Diexf
|
UTSW |
1 |
193,107,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4644:Diexf
|
UTSW |
1 |
193,128,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4761:Diexf
|
UTSW |
1 |
193,113,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4791:Diexf
|
UTSW |
1 |
193,128,267 (GRCm38) |
missense |
probably benign |
|
|
R4793:Diexf
|
UTSW |
1 |
193,113,808 (GRCm38) |
missense |
probably null |
0.56 |
|
R4858:Diexf
|
UTSW |
1 |
193,113,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4944:Diexf
|
UTSW |
1 |
193,114,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5162:Diexf
|
UTSW |
1 |
193,113,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5347:Diexf
|
UTSW |
1 |
193,128,379 (GRCm38) |
missense |
probably benign |
|
|
R5837:Diexf
|
UTSW |
1 |
193,118,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6113:Diexf
|
UTSW |
1 |
193,129,502 (GRCm38) |
missense |
probably null |
0.01 |
|
R6455:Diexf
|
UTSW |
1 |
193,128,376 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6563:Diexf
|
UTSW |
1 |
193,118,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6636:Diexf
|
UTSW |
1 |
193,113,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7018:Diexf
|
UTSW |
1 |
193,114,855 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7037:Diexf
|
UTSW |
1 |
193,120,723 (GRCm38) |
splice site |
probably null |
|
|
R8027:Diexf
|
UTSW |
1 |
193,118,222 (GRCm38) |
missense |
probably benign |
|
|
R8042:Diexf
|
UTSW |
1 |
193,114,672 (GRCm38) |
missense |
|
|
|
R8092:Diexf
|
UTSW |
1 |
193,120,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8243:Diexf
|
UTSW |
1 |
193,114,629 (GRCm38) |
missense |
probably benign |
|
|
R8691:Diexf
|
UTSW |
1 |
193,113,802 (GRCm38) |
missense |
probably benign |
0.41 |
|
R9485:Diexf
|
UTSW |
1 |
193,130,233 (GRCm38) |
unclassified |
probably benign |
|
|
X0050:Diexf
|
UTSW |
1 |
193,123,732 (GRCm38) |
missense |
probably benign |
0.23 |
|
Z1177:Diexf
|
UTSW |
1 |
193,114,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGCGGACTTCTTCTCC -3'
(R):5'- TGTAACTGTTGTCTGGACCCTC -3'
Sequencing Primer
(F):5'- AGTCCTCTCAGGGTAGAACAGGTC -3'
(R):5'- CCCTCTTGCCTGTGTGAGAGAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation