Incidental Mutation 'R1539:Dlec1'
ID 171568
Institutional Source Beutler Lab
Gene Symbol Dlec1
Ensembl Gene ENSMUSG00000038060
Gene Name deleted in lung and esophageal cancer 1
Synonyms D630005C06Rik
MMRRC Submission 039578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1539 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 118931546-118977314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118956518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 731 (S731P)
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 noncoding transcript
Transcript: ENSMUST00000124213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138736
Predicted Effect probably benign
Transcript: ENSMUST00000140326
AA Change: S731P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: S731P

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 noncoding transcript
Transcript: ENSMUST00000148611
Predicted Effect probably benign
Transcript: ENSMUST00000165231
AA Change: S731P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: S731P

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.0%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,652,097 (GRCm39) probably null Het
Adh7 A C 3: 137,929,716 (GRCm39) T131P possibly damaging Het
Agxt G A 1: 93,065,701 (GRCm39) G190D probably damaging Het
AI182371 A G 2: 34,978,815 (GRCm39) I193T probably damaging Het
Akna T A 4: 63,297,547 (GRCm39) T836S probably benign Het
Alox12 T C 11: 70,144,069 (GRCm39) probably null Het
Anapc2 C A 2: 25,163,075 (GRCm39) T104K probably benign Het
Ank1 T C 8: 23,583,935 (GRCm39) L346P probably damaging Het
Ankfn1 A T 11: 89,332,217 (GRCm39) I443N probably damaging Het
Arhgef17 G A 7: 100,539,680 (GRCm39) T1066I probably damaging Het
Atg2a C A 19: 6,296,801 (GRCm39) probably null Het
Bpifb5 T A 2: 154,065,776 (GRCm39) H24Q probably benign Het
Brd9 A G 13: 74,092,862 (GRCm39) E283G probably damaging Het
Cadm2 C A 16: 66,581,727 (GRCm39) V184F probably damaging Het
Casr A G 16: 36,315,499 (GRCm39) V857A probably benign Het
Ccdc18 A T 5: 108,339,843 (GRCm39) Q796L probably damaging Het
Cep290 T C 10: 100,332,690 (GRCm39) V263A probably benign Het
Clec10a A T 11: 70,060,645 (GRCm39) N167Y probably damaging Het
Cog1 A G 11: 113,543,058 (GRCm39) I189V possibly damaging Het
Commd2 A G 3: 57,554,269 (GRCm39) I144T probably benign Het
Cse1l A G 2: 166,768,292 (GRCm39) T197A probably benign Het
Csmd3 A T 15: 47,683,794 (GRCm39) S1783R probably benign Het
Cxxc1 T C 18: 74,352,278 (GRCm39) V334A possibly damaging Het
Dennd2d A G 3: 106,394,236 (GRCm39) I39V probably benign Het
Dgkz G A 2: 91,768,405 (GRCm39) P734S probably damaging Het
Diaph3 T C 14: 86,893,916 (GRCm39) D31G probably damaging Het
Dmac2l G A 12: 69,787,845 (GRCm39) D94N probably benign Het
Dnah11 T C 12: 117,894,991 (GRCm39) R3619G probably benign Het
Doc2b A G 11: 75,662,783 (GRCm39) L405P probably damaging Het
Dock3 A T 9: 106,829,563 (GRCm39) I1117N probably damaging Het
Dock3 G A 9: 106,874,112 (GRCm39) A453V probably benign Het
Ece2 T A 16: 20,461,263 (GRCm39) I474N probably damaging Het
Etv4 A T 11: 101,662,513 (GRCm39) probably null Het
Fam171b A T 2: 83,710,442 (GRCm39) M705L probably benign Het
Frem2 T C 3: 53,561,631 (GRCm39) K959E probably benign Het
Fyn T C 10: 39,408,066 (GRCm39) M251T possibly damaging Het
Galnt13 G A 2: 54,747,869 (GRCm39) G250E probably damaging Het
Ggh T C 4: 20,054,204 (GRCm39) probably null Het
Glcci1 A G 6: 8,591,620 (GRCm39) E222G probably damaging Het
Gm1968 G A 16: 29,777,659 (GRCm39) noncoding transcript Het
Gm3604 T A 13: 62,519,414 (GRCm39) I52F possibly damaging Het
Gm43302 T C 5: 105,422,635 (GRCm39) I466V probably benign Het
Gm9789 T C 16: 88,955,034 (GRCm39) S48P unknown Het
Gpat3 A T 5: 101,031,254 (GRCm39) Y136F probably benign Het
Gpr171 T C 3: 59,005,142 (GRCm39) D211G possibly damaging Het
Grep1 T A 17: 23,936,118 (GRCm39) probably benign Het
Hs3st1 T C 5: 39,771,791 (GRCm39) K284R probably benign Het
Htr2a C T 14: 74,882,608 (GRCm39) A198V possibly damaging Het
Ice1 C A 13: 70,754,023 (GRCm39) D688Y probably damaging Het
Jade1 T C 3: 41,559,431 (GRCm39) M504T probably benign Het
Lrp1 T C 10: 127,420,250 (GRCm39) probably null Het
Lsr A T 7: 30,671,517 (GRCm39) I72N possibly damaging Het
Magel2 G A 7: 62,028,557 (GRCm39) R487H possibly damaging Het
Mertk A G 2: 128,624,446 (GRCm39) D619G probably benign Het
Myo1b A T 1: 51,838,722 (GRCm39) V245E probably damaging Het
Myrip T A 9: 120,253,689 (GRCm39) L254Q probably benign Het
Nav3 A G 10: 109,603,031 (GRCm39) S1173P probably damaging Het
Ncoa7 T C 10: 30,647,725 (GRCm39) Y17C probably damaging Het
Ncor2 T C 5: 125,187,003 (GRCm39) E7G probably benign Het
Ninl A G 2: 150,817,867 (GRCm39) V99A probably damaging Het
Noct G T 3: 51,155,333 (GRCm39) E34* probably null Het
Notch1 A T 2: 26,362,125 (GRCm39) Y1043* probably null Het
Or10v1 T C 19: 11,873,855 (GRCm39) S157P possibly damaging Het
Or13a21 T A 7: 139,999,326 (GRCm39) Y120F probably benign Het
Or2d3 A G 7: 106,490,483 (GRCm39) Y278H probably damaging Het
Or6c88 G A 10: 129,406,640 (GRCm39) G39R probably damaging Het
Pde7b C A 10: 20,355,432 (GRCm39) R104L possibly damaging Het
Pkn1 C A 8: 84,396,966 (GRCm39) R890L possibly damaging Het
Podn A T 4: 107,878,764 (GRCm39) Y368N probably damaging Het
Polr1b G A 2: 128,960,019 (GRCm39) probably null Het
Ppp1r3c A T 19: 36,711,361 (GRCm39) F136L probably benign Het
Ppp2ca T A 11: 52,011,800 (GRCm39) F260Y probably damaging Het
Prss39 A G 1: 34,537,616 (GRCm39) S27G possibly damaging Het
Ptch1 A G 13: 63,689,101 (GRCm39) V340A probably benign Het
Ranbp17 T C 11: 33,247,394 (GRCm39) I246V probably damaging Het
Rilpl1 T A 5: 124,653,618 (GRCm39) D181V probably damaging Het
Sdk1 T A 5: 142,080,354 (GRCm39) V1282D probably damaging Het
Sh3rf2 T C 18: 42,282,887 (GRCm39) S514P probably damaging Het
Slc35f2 A T 9: 53,716,992 (GRCm39) I252F possibly damaging Het
Slc7a1 A G 5: 148,272,403 (GRCm39) Y425H possibly damaging Het
Spaca4 G T 7: 45,374,984 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,863,733 (GRCm39) S294P possibly damaging Het
Ssh1 T G 5: 114,090,064 (GRCm39) T342P probably damaging Het
Stk10 T A 11: 32,483,440 (GRCm39) S13T possibly damaging Het
Tbx1 G T 16: 18,402,843 (GRCm39) D214E probably benign Het
Tdp1 A G 12: 99,878,571 (GRCm39) E453G probably damaging Het
Tlr1 T C 5: 65,084,319 (GRCm39) Y86C probably damaging Het
Tmem241 A T 18: 12,176,297 (GRCm39) C124S possibly damaging Het
Trp63 A G 16: 25,703,599 (GRCm39) M516V probably benign Het
Ttc28 T C 5: 111,248,677 (GRCm39) V210A possibly damaging Het
Tut1 C T 19: 8,942,850 (GRCm39) R646W probably benign Het
Ubald1 C T 16: 4,694,261 (GRCm39) E49K possibly damaging Het
Usp28 T C 9: 48,949,096 (GRCm39) Y897H probably benign Het
Vmn2r27 A C 6: 124,168,730 (GRCm39) F800C probably damaging Het
Vmn2r83 T A 10: 79,327,759 (GRCm39) M789K probably damaging Het
Vwa8 A G 14: 79,300,002 (GRCm39) D945G probably benign Het
Wdhd1 T A 14: 47,482,507 (GRCm39) K947N possibly damaging Het
Wdr12 A T 1: 60,123,007 (GRCm39) probably null Het
Xrra1 A T 7: 99,520,564 (GRCm39) E57V 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
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
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'- TAGGTAAGGGAGACTCGCTGCTAC -3'
(R):5'- ACCTAACTCCAGCATCGCTTGGAC -3'

Sequencing Primer
(F):5'- TCTCCAAAGGGCACAGTG -3'
(R):5'- CATCGCTTGGACCAGCC -3'
Posted On 2014-04-13