Incidental Mutation 'R5370:Dner'
| ID |
429587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dner
|
| Ensembl Gene |
ENSMUSG00000036766 |
| Gene Name |
delta/notch-like EGF repeat containing |
| Synonyms |
BET, A930026D19Rik |
| MMRRC Submission |
042947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5370 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
CGCTGCTGCTGCTGCTGCTGCTGCTGC to CGCTGCTGCTGCTGCTGCTGCTGC
at 84563270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
[ENSMUST00000185606]
[ENSMUST00000191546]
|
| AlphaFold |
Q8JZM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049126
|
| SMART Domains |
Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
| 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 benign
Transcript: ENSMUST00000185606
|
| SMART Domains |
Protein: ENSMUSP00000140986
Gene: ENSMUSG00000036766
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
10 |
46 |
1.1e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191546
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
| Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
| Clec4g |
C |
A |
8: 3,768,344 (GRCm39) |
R129L |
probably benign |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,243,470 (GRCm39) |
C167S |
probably damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,329 (GRCm39) |
M191L |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,148,433 (GRCm39) |
D735G |
possibly damaging |
Het |
| Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
| Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,734,339 (GRCm39) |
I382L |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
| Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
| Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
possibly damaging |
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 |
|
|
R4530:Dner
|
UTSW |
1 |
84,560,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCTTGCATTAAAACCGCTGG -3'
(R):5'- TATGTGTGTTAAGAGAGCAGAGCTG -3'
Sequencing Primer
(F):5'- GCTTGCATTAAAACCGCTGGAATTG -3'
(R):5'- GGTAACAGGCAGCTCATTTCC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation