Incidental Mutation 'R8485:Dlec1'
ID 657687
Institutional Source Beutler Lab
Gene Symbol Dlec1
Ensembl Gene ENSMUSG00000038060
Gene Name deleted in lung and esophageal cancer 1
Synonyms D630005C06Rik
MMRRC Submission 067928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8485 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118931546-118977314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118957659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 881 (V881G)
Ref Sequence ENSEMBL: ENSMUSP00000128874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055775] [ENSMUST00000140326] [ENSMUST00000165231]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000055775
SMART Domains Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060

DomainStartEndE-ValueType
coiled coil region 127 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140326
AA Change: V881G

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: V881G

DomainStartEndE-ValueType
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: V881G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: V881G

DomainStartEndE-ValueType
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 0.3734 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 A G 3: 97,066,302 (GRCm39) probably benign Het
Adamts16 T C 13: 70,886,794 (GRCm39) T999A possibly damaging Het
Adgrb1 A C 15: 74,420,153 (GRCm39) T829P probably damaging Het
Ankrd12 C T 17: 66,290,711 (GRCm39) S1574N probably benign Het
Ankrd2 G A 19: 42,030,384 (GRCm39) probably null Het
Ano3 T A 2: 110,498,200 (GRCm39) probably null Het
Arhgap18 T C 10: 26,722,104 (GRCm39) I25T probably benign Het
Armc3 T C 2: 19,297,945 (GRCm39) F572S probably damaging Het
Aspdh G T 7: 44,117,093 (GRCm39) G165W probably damaging Het
Btnl10 G T 11: 58,811,142 (GRCm39) R155L possibly damaging Het
Cacng7 A G 7: 3,414,541 (GRCm39) E168G probably benign Het
Cadps G A 14: 12,439,872 (GRCm38) T1215M probably damaging Het
Cbfa2t3 C A 8: 123,357,517 (GRCm39) G598C probably damaging Het
Cdh15 T C 8: 123,584,105 (GRCm39) S69P probably damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Dnah7c A C 1: 46,719,952 (GRCm39) D2801A probably benign Het
Efhc1 T C 1: 21,030,460 (GRCm39) M131T possibly damaging Het
Ercc2 G A 7: 19,122,165 (GRCm39) V386I possibly damaging Het
Exoc4 T A 6: 33,898,436 (GRCm39) I885N probably damaging Het
Fbxl22 C T 9: 66,421,849 (GRCm39) probably null Het
Flii G T 11: 60,607,063 (GRCm39) A971E probably benign Het
Fnip2 T A 3: 79,388,844 (GRCm39) E599V probably benign Het
Glb1l2 G A 9: 26,679,036 (GRCm39) L453F probably benign Het
Gm49368 C T 7: 127,711,611 (GRCm39) P624L probably damaging Het
Gpa33 T A 1: 165,992,261 (GRCm39) D268E probably benign Het
Gpi1 A T 7: 33,918,677 (GRCm39) probably null Het
Iqgap2 T C 13: 95,796,659 (GRCm39) N1165S probably damaging Het
Irag2 A T 6: 145,117,400 (GRCm39) N379I probably damaging Het
Kctd2 G T 11: 115,320,434 (GRCm39) probably benign Het
L1td1 C T 4: 98,625,911 (GRCm39) A702V probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Mycbpap A G 11: 94,402,534 (GRCm39) L267P probably damaging Het
Mycbpap T C 11: 94,405,359 (GRCm39) R57G probably benign Het
Myo1b A C 1: 51,818,760 (GRCm39) L505R probably damaging Het
Nfatc2 A C 2: 168,432,012 (GRCm39) F34V probably damaging Het
Nphs1 A G 7: 30,165,598 (GRCm39) N655S probably damaging Het
Nsd2 A T 5: 34,040,189 (GRCm39) I909F probably damaging Het
Or10ag60 A T 2: 87,438,601 (GRCm39) M290L probably benign Het
Or8b37 T A 9: 37,959,253 (GRCm39) M245K probably benign Het
Pak2 G A 16: 31,871,083 (GRCm39) A33V probably benign Het
Phb1 A G 11: 95,566,055 (GRCm39) D113G probably benign Het
Pkhd1 T A 1: 20,593,257 (GRCm39) I1619F probably damaging Het
Pkhd1l1 A G 15: 44,423,796 (GRCm39) I3113V probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Prrc2b T A 2: 32,102,105 (GRCm39) M726K possibly damaging Het
Rai14 A G 15: 10,575,122 (GRCm39) L612P probably damaging Het
Rapgef1 T C 2: 29,600,186 (GRCm39) S598P probably damaging Het
Rdm1 G A 11: 101,518,816 (GRCm39) V8I probably benign Het
Rrbp1 A G 2: 143,796,933 (GRCm39) F1148L probably benign Het
Slc12a2 T C 18: 58,074,218 (GRCm39) probably null Het
Slc7a8 T A 14: 54,962,264 (GRCm39) T457S probably benign Het
Stk32a T A 18: 43,376,075 (GRCm39) M48K possibly damaging Het
Svil T C 18: 5,064,566 (GRCm39) S642P probably benign Het
Taok3 G A 5: 117,389,142 (GRCm39) V516M possibly damaging Het
Ugdh T C 5: 65,584,902 (GRCm39) I7V possibly damaging Het
Zc3h11a T A 1: 133,553,633 (GRCm39) S504C possibly damaging Het
Zfp512 C T 5: 31,637,401 (GRCm39) R497W probably damaging Het
Other mutations in Dlec1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTGGTAATGCCTGGAGAG -3'
(R):5'- GGCTGCTTCTAAGGAGAACC -3'

Sequencing Primer
(F):5'- GGTTAGGACCCAGTCACTTC -3'
(R):5'- CTGCATCCAGTGTTTGAAAAGG -3'
Posted On 2021-01-18