Incidental Mutation 'R6644:Dner'
ID |
525974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dner
|
Ensembl Gene |
ENSMUSG00000036766 |
Gene Name |
delta/notch-like EGF repeat containing |
Synonyms |
BET, A930026D19Rik |
MMRRC Submission |
044765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6644 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84373428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 588
(N588S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
|
AlphaFold |
Q8JZM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: N588S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042927 Gene: ENSMUSG00000036766 AA Change: N588S
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 |
noncoding transcript
Transcript: ENSMUST00000191700
|
Meta Mutation Damage Score |
0.0658 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
Abhd14a |
T |
C |
9: 106,321,472 (GRCm39) |
Y10C |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
Garin2 |
T |
A |
12: 78,762,060 (GRCm39) |
D241E |
probably damaging |
Het |
Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
Stx5a |
A |
T |
19: 8,732,612 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
Trim34a |
T |
C |
7: 103,910,244 (GRCm39) |
Y349H |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,858,671 (GRCm39) |
Y834C |
possibly damaging |
Het |
Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
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 |
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 |
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'- GGTGACTGAAATGGTCCCTCTG -3'
(R):5'- ATAAATAGGAGACTGGGCTCCATG -3'
Sequencing Primer
(F):5'- GAAATGGTCCCTCTGAGCCTTG -3'
(R):5'- CCATGACTGGAAGATTGTGATCGC -3'
|
Posted On |
2018-06-22 |