Incidental Mutation 'R5521:Dlec1'
| ID |
484482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlec1
|
| Ensembl Gene |
ENSMUSG00000038060 |
| Gene Name |
deleted in lung and esophageal cancer 1 |
| Synonyms |
D630005C06Rik |
| MMRRC Submission |
043080-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5521 (G1)
|
| Quality Score |
136 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118931546-118977314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118972469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 1458
(Q1458P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010795]
[ENSMUST00000140326]
[ENSMUST00000165231]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010795
|
| SMART Domains |
Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
38 |
291 |
6.7e-90 |
PFAM |
|
Pfam:Thiolase_C
|
298 |
421 |
3e-53 |
PFAM |
|
Pfam:ACP_syn_III_C
|
329 |
420 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137047
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140326
AA Change: Q1458P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: Q1458P
| 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 |
possibly damaging
Transcript: ENSMUST00000165231
AA Change: Q1458P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: Q1458P
| 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 |
0.0910 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
| Validation Efficiency |
94% (72/77) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
| Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
| Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
| Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
| Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
| Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
| Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
| Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
| Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
| Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
| Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
| Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
| Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
| Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
| Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
| Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
| Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
| Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
| Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
| Zfp780b |
C |
A |
7: 27,674,173 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R7019:Dlec1
|
UTSW |
9 |
118,941,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TTCATGAGCTTGGATAAGGAGG -3'
(R):5'- CAGAATTCCAAGTAGCCACTGC -3'
Sequencing Primer
(F):5'- AGGTGAGCCTTCCCACCTG -3'
(R):5'- TGCCCAGTGACAGGTGCTG -3'
|
| Posted On |
2017-07-21 |
Incidental Mutation