Incidental Mutation 'R7019:Dlec1'
| ID |
545514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlec1
|
| Ensembl Gene |
ENSMUSG00000038060 |
| Gene Name |
deleted in lung and esophageal cancer 1 |
| Synonyms |
D630005C06Rik |
| MMRRC Submission |
045120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118931546-118977314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118941490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 292
(P292L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055775]
[ENSMUST00000140326]
[ENSMUST00000165231]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055775
AA Change: P292L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060
AA Change: P292L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
127 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140326
AA Change: P292L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: P292L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
127 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165231
AA Change: P292L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: P292L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
127 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1354 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1116 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,436,395 (GRCm39) |
K414* |
probably null |
Het |
| Aco1 |
T |
A |
4: 40,186,376 (GRCm39) |
I596N |
probably damaging |
Het |
| Adgre1 |
A |
C |
17: 57,717,945 (GRCm39) |
D319A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,916,340 (GRCm39) |
V445A |
probably benign |
Het |
| Btd |
A |
C |
14: 31,389,062 (GRCm39) |
Q261P |
probably damaging |
Het |
| Btd |
G |
T |
14: 31,389,063 (GRCm39) |
Q261H |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,075,164 (GRCm39) |
Y176F |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,636,431 (GRCm39) |
S287G |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,283,495 (GRCm39) |
T12S |
probably benign |
Het |
| Cnga4 |
G |
T |
7: 105,055,036 (GRCm39) |
A104S |
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,947 (GRCm39) |
L306F |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,445,196 (GRCm39) |
D36G |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,262,856 (GRCm39) |
D681N |
|
Het |
| Cspg4b |
C |
T |
13: 113,488,284 (GRCm39) |
T102I |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,597,223 (GRCm39) |
M75V |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,260 (GRCm39) |
L149P |
probably damaging |
Het |
| D630045J12Rik |
T |
G |
6: 38,171,570 (GRCm39) |
E866A |
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,966,817 (GRCm39) |
E402A |
possibly damaging |
Het |
| Egf |
T |
C |
3: 129,511,713 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,564,321 (GRCm39) |
Q15R |
possibly damaging |
Het |
| Esyt3 |
A |
G |
9: 99,197,338 (GRCm39) |
F831L |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fut7 |
A |
G |
2: 25,315,792 (GRCm39) |
D350G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,511,446 (GRCm39) |
E466D |
probably damaging |
Het |
| Glrp1 |
A |
T |
1: 88,430,890 (GRCm39) |
M160K |
unknown |
Het |
| Gngt1 |
T |
C |
6: 3,994,088 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,507,508 (GRCm39) |
V7E |
possibly damaging |
Het |
| Idh3b |
A |
T |
2: 130,122,886 (GRCm39) |
V301D |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,791,524 (GRCm39) |
C385G |
probably benign |
Het |
| Ilvbl |
T |
A |
10: 78,414,920 (GRCm39) |
L261Q |
probably damaging |
Het |
| Irx6 |
T |
A |
8: 93,405,362 (GRCm39) |
L410Q |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itih5 |
C |
A |
2: 10,195,138 (GRCm39) |
R177S |
probably damaging |
Het |
| Klra3 |
C |
T |
6: 130,304,087 (GRCm39) |
G202R |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,311,851 (GRCm39) |
V103A |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,475 (GRCm39) |
S2145P |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,869,428 (GRCm39) |
R477G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,379,581 (GRCm39) |
L653F |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,617,852 (GRCm39) |
|
probably null |
Het |
| Myrip |
T |
G |
9: 120,251,573 (GRCm39) |
L232R |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,885,999 (GRCm39) |
H126L |
probably benign |
Het |
| Or4n5 |
A |
T |
14: 50,133,124 (GRCm39) |
I45N |
probably damaging |
Het |
| Or5p50 |
G |
T |
7: 107,422,365 (GRCm39) |
L104I |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,290,098 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,546,056 (GRCm39) |
N377K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
C |
16: 15,587,830 (GRCm39) |
I2572L |
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,357,476 (GRCm39) |
D322E |
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,941,574 (GRCm39) |
I332T |
probably damaging |
Het |
| Rab8a |
T |
C |
8: 72,915,227 (GRCm39) |
F9L |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,057,241 (GRCm39) |
K165N |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
| Rsad2 |
T |
A |
12: 26,506,418 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tymp |
A |
T |
15: 89,260,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r104 |
A |
G |
7: 20,268,491 (GRCm39) |
M244V |
probably benign |
Het |
| Vmn1r232 |
G |
A |
17: 21,133,547 (GRCm39) |
T351M |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,784,172 (GRCm39) |
Y101H |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,078,089 (GRCm39) |
L123P |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,134,488 (GRCm39) |
N331D |
probably damaging |
Het |
| Wdr47 |
C |
T |
3: 108,521,671 (GRCm39) |
Q89* |
probably null |
Het |
| Zcchc4 |
A |
T |
5: 52,941,375 (GRCm39) |
T57S |
probably benign |
Het |
|
| Other mutations in Dlec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01106:Dlec1
|
APN |
9 |
118,931,853 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01137:Dlec1
|
APN |
9 |
118,966,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01338:Dlec1
|
APN |
9 |
118,949,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01652:Dlec1
|
APN |
9 |
118,972,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01923:Dlec1
|
APN |
9 |
118,957,182 (GRCm39) |
splice site |
probably null |
|
|
IGL02186:Dlec1
|
APN |
9 |
118,972,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02597:Dlec1
|
APN |
9 |
118,963,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02667:Dlec1
|
APN |
9 |
118,956,534 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02718:Dlec1
|
APN |
9 |
118,966,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02731:Dlec1
|
APN |
9 |
118,976,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02831:Dlec1
|
APN |
9 |
118,972,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Dlec1
|
APN |
9 |
118,952,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
I2288:Dlec1
|
UTSW |
9 |
118,972,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Dlec1
|
UTSW |
9 |
118,934,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Dlec1
|
UTSW |
9 |
118,971,934 (GRCm39) |
missense |
probably benign |
|
|
R0554:Dlec1
|
UTSW |
9 |
118,944,070 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0611:Dlec1
|
UTSW |
9 |
118,941,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1344:Dlec1
|
UTSW |
9 |
118,959,085 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1467:Dlec1
|
UTSW |
9 |
118,971,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Dlec1
|
UTSW |
9 |
118,971,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Dlec1
|
UTSW |
9 |
118,957,071 (GRCm39) |
splice site |
probably benign |
|
|
R1539:Dlec1
|
UTSW |
9 |
118,956,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Dlec1
|
UTSW |
9 |
118,975,075 (GRCm39) |
splice site |
probably null |
|
|
R1809:Dlec1
|
UTSW |
9 |
118,965,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1830:Dlec1
|
UTSW |
9 |
118,967,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1901:Dlec1
|
UTSW |
9 |
118,931,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2060:Dlec1
|
UTSW |
9 |
118,941,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Dlec1
|
UTSW |
9 |
118,950,912 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2237:Dlec1
|
UTSW |
9 |
118,967,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2983:Dlec1
|
UTSW |
9 |
118,975,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3117:Dlec1
|
UTSW |
9 |
118,972,971 (GRCm39) |
splice site |
probably null |
|
|
R3816:Dlec1
|
UTSW |
9 |
118,953,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Dlec1
|
UTSW |
9 |
118,972,129 (GRCm39) |
splice site |
probably benign |
|
|
R3965:Dlec1
|
UTSW |
9 |
118,957,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4023:Dlec1
|
UTSW |
9 |
118,966,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4024:Dlec1
|
UTSW |
9 |
118,966,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4026:Dlec1
|
UTSW |
9 |
118,966,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4272:Dlec1
|
UTSW |
9 |
118,972,231 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4545:Dlec1
|
UTSW |
9 |
118,957,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4546:Dlec1
|
UTSW |
9 |
118,957,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4601:Dlec1
|
UTSW |
9 |
118,976,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4695:Dlec1
|
UTSW |
9 |
118,972,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Dlec1
|
UTSW |
9 |
118,975,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5321:Dlec1
|
UTSW |
9 |
118,941,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5521:Dlec1
|
UTSW |
9 |
118,972,469 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5650:Dlec1
|
UTSW |
9 |
118,972,662 (GRCm39) |
nonsense |
probably null |
|
|
R5825:Dlec1
|
UTSW |
9 |
118,972,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Dlec1
|
UTSW |
9 |
118,955,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6056:Dlec1
|
UTSW |
9 |
118,950,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6111:Dlec1
|
UTSW |
9 |
118,931,692 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6156:Dlec1
|
UTSW |
9 |
118,939,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6160:Dlec1
|
UTSW |
9 |
118,972,387 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6195:Dlec1
|
UTSW |
9 |
118,966,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6364:Dlec1
|
UTSW |
9 |
118,950,939 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6480:Dlec1
|
UTSW |
9 |
118,976,758 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6808:Dlec1
|
UTSW |
9 |
118,955,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6813:Dlec1
|
UTSW |
9 |
118,941,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7048:Dlec1
|
UTSW |
9 |
118,972,472 (GRCm39) |
splice site |
probably null |
|
|
R7187:Dlec1
|
UTSW |
9 |
118,941,214 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7230:Dlec1
|
UTSW |
9 |
118,953,606 (GRCm39) |
splice site |
probably null |
|
|
R7585:Dlec1
|
UTSW |
9 |
118,971,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8342:Dlec1
|
UTSW |
9 |
118,968,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8480:Dlec1
|
UTSW |
9 |
118,972,335 (GRCm39) |
splice site |
probably null |
|
|
R8481:Dlec1
|
UTSW |
9 |
118,972,335 (GRCm39) |
splice site |
probably null |
|
|
R8485:Dlec1
|
UTSW |
9 |
118,957,659 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8520:Dlec1
|
UTSW |
9 |
118,941,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8556:Dlec1
|
UTSW |
9 |
118,955,289 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8755:Dlec1
|
UTSW |
9 |
118,967,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Dlec1
|
UTSW |
9 |
118,941,650 (GRCm39) |
missense |
probably benign |
|
|
R8813:Dlec1
|
UTSW |
9 |
118,956,498 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8983:Dlec1
|
UTSW |
9 |
118,957,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Dlec1
|
UTSW |
9 |
118,950,985 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9085:Dlec1
|
UTSW |
9 |
118,953,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Dlec1
|
UTSW |
9 |
118,941,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9467:Dlec1
|
UTSW |
9 |
118,971,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Dlec1
|
UTSW |
9 |
118,956,533 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Dlec1
|
UTSW |
9 |
118,967,854 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Dlec1
|
UTSW |
9 |
118,976,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Dlec1
|
UTSW |
9 |
118,963,541 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCATCTCGAAGGCCAAAG -3'
(R):5'- AGGGATGCTCTTCTCTCTGG -3'
Sequencing Primer
(F):5'- GACCACAGATTCTGTCAAGGTTAG -3'
(R):5'- TCTCTGGCTTGCTCAAAGGGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation