Incidental Mutation 'R9170:Dner'
| ID |
696319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dner
|
| Ensembl Gene |
ENSMUSG00000036766 |
| Gene Name |
delta/notch-like EGF repeat containing |
| Synonyms |
BET, A930026D19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84512647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 307
(C307S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
|
| AlphaFold |
Q8JZM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: C307S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: C307S
| 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 |
|
| Meta Mutation Damage Score |
0.8088 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (61/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,516 (GRCm39) |
K702E |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 75,985,069 (GRCm39) |
I162T |
|
Het |
| Agpat2 |
A |
T |
2: 26,487,230 (GRCm39) |
I101N |
possibly damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Arhgap32 |
G |
A |
9: 32,162,039 (GRCm39) |
R330H |
possibly damaging |
Het |
| Asb4 |
T |
A |
6: 5,390,775 (GRCm39) |
I56N |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,604,087 (GRCm39) |
V449M |
possibly damaging |
Het |
| Bend4 |
A |
G |
5: 67,575,080 (GRCm39) |
L267P |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,967,949 (GRCm39) |
N745K |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,554,646 (GRCm39) |
F484L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,241,648 (GRCm39) |
D1495G |
possibly damaging |
Het |
| Chrna3 |
A |
T |
9: 54,933,671 (GRCm39) |
V8D |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,966,802 (GRCm39) |
Y466C |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,841,363 (GRCm39) |
E328G |
unknown |
Het |
| Col7a1 |
A |
G |
9: 108,785,707 (GRCm39) |
Y392C |
unknown |
Het |
| Crtc3 |
A |
T |
7: 80,248,697 (GRCm39) |
N255K |
probably damaging |
Het |
| Dnaaf1 |
T |
C |
8: 120,302,195 (GRCm39) |
I32T |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,401 (GRCm39) |
K423E |
possibly damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,393 (GRCm39) |
S414P |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,624,891 (GRCm39) |
E334G |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,587,689 (GRCm39) |
N141I |
probably benign |
Het |
| Fstl1 |
T |
A |
16: 37,647,140 (GRCm39) |
V170E |
probably damaging |
Het |
| Fxn |
A |
G |
19: 24,244,687 (GRCm39) |
I151T |
probably damaging |
Het |
| Gtf3c4 |
A |
T |
2: 28,730,214 (GRCm39) |
V9E |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,132,607 (GRCm39) |
S19P |
probably damaging |
Het |
| Kank3 |
T |
G |
17: 34,037,242 (GRCm39) |
L370R |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,542,645 (GRCm39) |
Y693F |
probably benign |
Het |
| Lig4 |
C |
A |
8: 10,022,202 (GRCm39) |
W526L |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,726,437 (GRCm39) |
P45S |
probably benign |
Het |
| Ndufaf6 |
T |
C |
4: 11,070,301 (GRCm39) |
K107E |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,436,291 (GRCm39) |
L1977P |
probably damaging |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,091,850 (GRCm39) |
P160L |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,404 (GRCm39) |
F160I |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,258,962 (GRCm39) |
R1570Q |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,531,213 (GRCm39) |
A32T |
|
Het |
| Pclo |
A |
G |
5: 14,731,068 (GRCm39) |
Q64R |
|
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,341,600 (GRCm39) |
S10P |
possibly damaging |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prf1 |
A |
C |
10: 61,136,216 (GRCm39) |
D164A |
probably damaging |
Het |
| Rarres1 |
A |
G |
3: 67,386,924 (GRCm39) |
V226A |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,948,375 (GRCm39) |
L106P |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,511,326 (GRCm39) |
T338S |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc9a5 |
T |
C |
8: 106,080,139 (GRCm39) |
V94A |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,106,478 (GRCm39) |
D220G |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,485 (GRCm39) |
Q565L |
possibly damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,200 (GRCm39) |
D272G |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,355 (GRCm39) |
N427S |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tnni3 |
A |
T |
7: 4,521,376 (GRCm39) |
F209L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,745,912 (GRCm39) |
S5046C |
probably damaging |
Het |
| Tubb2a |
T |
A |
13: 34,260,628 (GRCm39) |
I24L |
probably benign |
Het |
| Uevld |
C |
A |
7: 46,587,746 (GRCm39) |
G318V |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,448,350 (GRCm39) |
S308P |
probably benign |
Het |
| Vmn1r159 |
C |
A |
7: 22,542,765 (GRCm39) |
C89F |
probably damaging |
Het |
| Wee2 |
T |
G |
6: 40,437,977 (GRCm39) |
S302A |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,666 (GRCm39) |
C144R |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,419 (GRCm39) |
S667P |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 75,874,651 (GRCm39) |
Y177N |
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,814,362 (GRCm39) |
E188K |
probably benign |
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 |
|
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 |
|
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'- GCATAGAACTTCTTATTCCAGTGAC -3'
(R):5'- TGACCTTCAGATGGAATTCTGTC -3'
Sequencing Primer
(F):5'- TCATATGGAAAACCACAACGATATG -3'
(R):5'- ACCTTCAGATGGAATTCTGTCTGGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation