Incidental Mutation 'R4601:Dlec1'
ID 345639
Institutional Source Beutler Lab
Gene Symbol Dlec1
Ensembl Gene ENSMUSG00000038060
Gene Name deleted in lung and esophageal cancer 1
Synonyms D630005C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4601 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 118931546-118977314 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 118976202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
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: ENSMUST00000127952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137047
Predicted Effect probably null
Transcript: ENSMUST00000140326
SMART Domains Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060

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 null
Transcript: ENSMUST00000165231
SMART Domains Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.5%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,827,847 (GRCm39) D555E probably damaging Het
Abca16 T G 7: 120,035,920 (GRCm39) F334L probably damaging Het
Abcc4 T A 14: 118,869,575 (GRCm39) M186L probably benign Het
Agap3 T C 5: 24,681,406 (GRCm39) L120P probably damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Aldh1a7 A T 19: 20,693,343 (GRCm39) V192D probably damaging Het
Ankrd36 A G 11: 5,520,102 (GRCm39) D59G probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cacna1e A G 1: 154,347,359 (GRCm39) V936A probably benign Het
Camkv T C 9: 107,823,295 (GRCm39) V107A probably damaging Het
Camp T C 9: 109,677,730 (GRCm39) E80G probably damaging Het
Cblif A C 19: 11,729,554 (GRCm39) D171A probably damaging Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd101 G A 3: 100,901,204 (GRCm39) T960M possibly damaging Het
Cdk18 A G 1: 132,044,657 (GRCm39) V323A possibly damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cemip T C 7: 83,600,826 (GRCm39) I932V probably damaging Het
Cep250 C A 2: 155,803,973 (GRCm39) Q28K probably benign Het
Ces2f T C 8: 105,676,596 (GRCm39) C97R probably damaging Het
Cfap126 G T 1: 170,941,627 (GRCm39) G41C possibly damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Chat T C 14: 32,146,112 (GRCm39) M354V probably benign Het
Clca4b A T 3: 144,632,945 (GRCm39) D168E possibly damaging Het
Cpxm1 T A 2: 130,235,496 (GRCm39) M499L possibly damaging Het
Dennd3 T A 15: 73,439,009 (GRCm39) W1126R probably damaging Het
Dgkb T C 12: 38,652,819 (GRCm39) S735P probably damaging Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Dph5 A G 3: 115,693,426 (GRCm39) N115D possibly damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Erich3 A T 3: 154,470,375 (GRCm39) D136V unknown Het
Exoc2 T C 13: 31,066,251 (GRCm39) N475S probably benign Het
Fam217a T C 13: 35,095,285 (GRCm39) D310G probably damaging Het
Fam53a C T 5: 33,758,007 (GRCm39) S372N probably benign Het
Fbn2 C G 18: 58,186,805 (GRCm39) G1699R probably damaging Het
Fbxo46 T C 7: 18,869,489 (GRCm39) V36A probably benign Het
Fhip1a T C 3: 85,648,487 (GRCm39) M26V probably damaging Het
G6pc1 A G 11: 101,263,567 (GRCm39) Y127C probably damaging Het
Gba2 A G 4: 43,573,810 (GRCm39) F161L probably damaging Het
Gja1 T C 10: 56,264,325 (GRCm39) L228P probably damaging Het
Gm20834 A G Y: 10,323,178 (GRCm39) V86A probably benign Het
Hmcn1 A T 1: 150,614,396 (GRCm39) C1337S probably damaging Het
Il1rl1 T A 1: 40,480,460 (GRCm39) S30T possibly damaging Het
Itgb4 A G 11: 115,896,548 (GRCm39) T1436A probably damaging Het
Itk T A 11: 46,227,342 (GRCm39) Q427L probably benign Het
Klhdc4 T C 8: 122,526,266 (GRCm39) E291G probably damaging Het
Map4 T A 9: 109,881,887 (GRCm39) S250R possibly damaging Het
Mnt T A 11: 74,727,285 (GRCm39) V57E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtcl2 T C 2: 156,881,844 (GRCm39) K736R probably benign Het
Musk A T 4: 58,301,625 (GRCm39) I128F probably damaging Het
Myh4 G A 11: 67,141,136 (GRCm39) A733T possibly damaging Het
Myo5a T A 9: 75,043,670 (GRCm39) F220I probably damaging Het
Npas3 A G 12: 54,091,361 (GRCm39) H305R probably damaging Het
Nrcam A T 12: 44,637,839 (GRCm39) Y1132F probably damaging Het
Nt5c3b A C 11: 100,323,744 (GRCm39) D189E probably benign Het
Nuf2 A G 1: 169,333,683 (GRCm39) L331P probably damaging Het
Nup214 C T 2: 31,887,977 (GRCm39) T646I probably benign Het
Or14j9 T C 17: 37,875,076 (GRCm39) N42S probably damaging Het
Pcdh18 T C 3: 49,699,174 (GRCm39) E1096G probably damaging Het
Pgm2 T A 5: 64,265,070 (GRCm39) F364I probably benign Het
Pikfyve A G 1: 65,273,421 (GRCm39) N612S probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Prkd2 G T 7: 16,577,573 (GRCm39) probably benign Het
Rnf133 T C 6: 23,649,041 (GRCm39) E296G possibly damaging Het
Sav1 A T 12: 70,031,095 (GRCm39) D142E probably benign Het
Scn3b C A 9: 40,199,719 (GRCm39) P212T probably damaging Het
Sel1l A T 12: 91,799,827 (GRCm39) probably null Het
Septin9 A G 11: 117,251,310 (GRCm39) K543E probably damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Snrpa A G 7: 26,894,958 (GRCm39) M1T probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Srpk3 A G X: 72,818,547 (GRCm39) H79R possibly damaging Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Stradb G A 1: 59,032,731 (GRCm39) S361N probably damaging Het
Sult3a2 T C 10: 33,658,083 (GRCm39) K10R probably benign Het
Susd4 A G 1: 182,686,025 (GRCm39) N192D probably damaging Het
Tcp10a T A 17: 7,593,374 (GRCm39) D32E probably benign Het
Tdpoz4 T A 3: 93,704,339 (GRCm39) V212D probably damaging Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tex55 A G 16: 38,648,380 (GRCm39) V243A probably benign Het
Traj37 T C 14: 54,418,996 (GRCm39) probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Vmn2r115 T A 17: 23,565,373 (GRCm39) L420Q probably benign Het
Wdr24 T A 17: 26,047,181 (GRCm39) probably null Het
Wdr81 T A 11: 75,336,484 (GRCm39) Q516L probably damaging Het
Zfp516 A G 18: 82,974,164 (GRCm39) T121A probably benign Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
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
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'- AAGGTTGCCTCACCCTTCAC -3'
(R):5'- GGATCAGATGAACCTCTTGGG -3'

Sequencing Primer
(F):5'- CTGAGTCACAGGCTTGGG -3'
(R):5'- GGGTTCACCTCTGGTCCTG -3'
Posted On 2015-09-25