Incidental Mutation 'R4530:Dner'
| ID |
333063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dner
|
| Ensembl Gene |
ENSMUSG00000036766 |
| Gene Name |
delta/notch-like EGF repeat containing |
| Synonyms |
BET, A930026D19Rik |
| MMRRC Submission |
041770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84560736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 136
(N136K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
[ENSMUST00000185606]
[ENSMUST00000191546]
|
| AlphaFold |
Q8JZM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: N223K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: N223K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
EGF
|
47 |
92 |
9.85e-5 |
SMART |
|
EGF
|
97 |
133 |
2.33e-6 |
SMART |
|
EGF
|
306 |
348 |
1.8e1 |
SMART |
|
EGF
|
352 |
390 |
5e-6 |
SMART |
|
EGF_CA
|
392 |
428 |
8.97e-8 |
SMART |
|
EGF
|
433 |
466 |
3.54e-6 |
SMART |
|
EGF
|
471 |
503 |
4.66e-6 |
SMART |
|
EGF_CA
|
505 |
541 |
1.61e-9 |
SMART |
|
EGF
|
546 |
579 |
9.7e-4 |
SMART |
|
EGF_CA
|
581 |
617 |
4.52e-13 |
SMART |
|
transmembrane domain
|
639 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185606
AA Change: N136K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140986
Gene: ENSMUSG00000036766
AA Change: N136K
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
10 |
46 |
1.1e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191306
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191546
AA Change: N35K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.0741 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination. [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 |
|---|
| Adcy4 |
T |
C |
14: 56,016,485 (GRCm39) |
D322G |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,850,802 (GRCm39) |
M144T |
possibly damaging |
Het |
| Arid4b |
C |
A |
13: 14,301,040 (GRCm39) |
T41N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,407,146 (GRCm39) |
Y580N |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,252 (GRCm39) |
N227D |
possibly damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,639,457 (GRCm39) |
D18G |
possibly damaging |
Het |
| Clec4e |
T |
C |
6: 123,266,733 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,584,842 (GRCm39) |
I1093T |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,811 (GRCm39) |
S249G |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,330,518 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
G |
3: 40,637,794 (GRCm39) |
C427G |
possibly damaging |
Het |
| Kif21a |
A |
C |
15: 90,852,292 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,634 (GRCm39) |
E348G |
possibly damaging |
Het |
| Or10g6 |
G |
A |
9: 39,934,589 (GRCm39) |
R300K |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,498 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or8g2b |
G |
T |
9: 39,751,379 (GRCm39) |
M216I |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,487,905 (GRCm39) |
D299G |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Prss43 |
A |
T |
9: 110,658,572 (GRCm39) |
M291L |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,186 (GRCm39) |
N338D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Stip1 |
G |
T |
19: 7,013,026 (GRCm39) |
N19K |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,842 (GRCm39) |
F301L |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,576,540 (GRCm39) |
V104L |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,147 (GRCm39) |
F938I |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,164 (GRCm39) |
|
probably benign |
Het |
| Xndc1 |
C |
A |
7: 101,727,942 (GRCm39) |
N85K |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp930 |
C |
T |
8: 69,681,483 (GRCm39) |
Q393* |
probably null |
Het |
|
| Other mutations in Dner |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Dner
|
APN |
1 |
84,361,731 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02251:Dner
|
APN |
1 |
84,361,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Dner
|
APN |
1 |
84,512,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03063:Dner
|
APN |
1 |
84,563,059 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0013:Dner
|
UTSW |
1 |
84,472,614 (GRCm39) |
splice site |
probably benign |
|
|
R0112:Dner
|
UTSW |
1 |
84,560,774 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0196:Dner
|
UTSW |
1 |
84,348,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Dner
|
UTSW |
1 |
84,423,101 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Dner
|
UTSW |
1 |
84,383,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Dner
|
UTSW |
1 |
84,563,030 (GRCm39) |
splice site |
probably benign |
|
|
R1143:Dner
|
UTSW |
1 |
84,423,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1585:Dner
|
UTSW |
1 |
84,563,177 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1636:Dner
|
UTSW |
1 |
84,563,051 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1739:Dner
|
UTSW |
1 |
84,348,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1756:Dner
|
UTSW |
1 |
84,423,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1960:Dner
|
UTSW |
1 |
84,423,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2061:Dner
|
UTSW |
1 |
84,383,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Dner
|
UTSW |
1 |
84,361,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2265:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2382:Dner
|
UTSW |
1 |
84,348,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Dner
|
UTSW |
1 |
84,560,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Dner
|
UTSW |
1 |
84,361,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4552:Dner
|
UTSW |
1 |
84,361,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Dner
|
UTSW |
1 |
84,361,537 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4593:Dner
|
UTSW |
1 |
84,673,449 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4711:Dner
|
UTSW |
1 |
84,361,618 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5102:Dner
|
UTSW |
1 |
84,383,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Dner
|
UTSW |
1 |
84,558,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5370:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6000:Dner
|
UTSW |
1 |
84,361,650 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6644:Dner
|
UTSW |
1 |
84,373,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Dner
|
UTSW |
1 |
84,472,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Dner
|
UTSW |
1 |
84,383,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Dner
|
UTSW |
1 |
84,454,123 (GRCm39) |
nonsense |
probably null |
|
|
R7056:Dner
|
UTSW |
1 |
84,558,457 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7410:Dner
|
UTSW |
1 |
84,563,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7869:Dner
|
UTSW |
1 |
84,361,602 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7938:Dner
|
UTSW |
1 |
84,673,218 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8253:Dner
|
UTSW |
1 |
84,512,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Dner
|
UTSW |
1 |
84,673,226 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9170:Dner
|
UTSW |
1 |
84,512,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Dner
|
UTSW |
1 |
84,673,193 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9763:Dner
|
UTSW |
1 |
84,361,656 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Dner
|
UTSW |
1 |
84,361,701 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Dner
|
UTSW |
1 |
84,423,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Dner
|
UTSW |
1 |
84,423,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dner
|
UTSW |
1 |
84,383,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCCACAGCTGACCAGAC -3'
(R):5'- CAGGCGACAGTGTTATTTCTGAG -3'
Sequencing Primer
(F):5'- GACCTCCCACCATGATCCTC -3'
(R):5'- GCGACAGTGTTATTTCTGAGCAAAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation