Incidental Mutation 'R1901:Dlec1'
ID 212224
Institutional Source Beutler Lab
Gene Symbol Dlec1
Ensembl Gene ENSMUSG00000038060
Gene Name deleted in lung and esophageal cancer 1
Synonyms D630005C06Rik
MMRRC Submission 039921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1901 (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 118931712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 44 (S44P)
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 damaging
Transcript: ENSMUST00000055775
AA Change: S44P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060
AA Change: S44P

DomainStartEndE-ValueType
coiled coil region 127 154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124213
Predicted Effect probably damaging
Transcript: ENSMUST00000140326
AA Change: S44P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: S44P

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 damaging
Transcript: ENSMUST00000165231
AA Change: S44P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: S44P

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: 97.3%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.5%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,945,322 (GRCm39) E466G probably damaging Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Acta1 A T 8: 124,619,900 (GRCm39) S147T probably benign Het
Adh1 G A 3: 137,994,558 (GRCm39) V293I probably benign Het
Aldh3b3 T C 19: 4,015,130 (GRCm39) Y170H probably damaging Het
Ank3 A T 10: 69,658,167 (GRCm39) T198S probably damaging Het
Ankrd12 A T 17: 66,293,698 (GRCm39) N578K possibly damaging Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Col19a1 A T 1: 24,576,078 (GRCm39) I88K unknown Het
Col1a1 G A 11: 94,837,458 (GRCm39) probably null Het
Col5a1 A G 2: 27,850,456 (GRCm39) T518A unknown Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Dock9 T C 14: 121,862,565 (GRCm39) probably null Het
Fbxl9 T C 8: 106,039,707 (GRCm39) N556S probably damaging Het
Flrt2 C A 12: 95,745,904 (GRCm39) P81T probably damaging Het
Flrt2 C T 12: 95,745,905 (GRCm39) P81L probably damaging Het
Ginm1 A G 10: 7,650,980 (GRCm39) probably null Het
Glis3 T C 19: 28,508,985 (GRCm39) N333S probably damaging Het
Glo1 T G 17: 30,815,382 (GRCm39) E144D probably benign Het
Golga1 A T 2: 38,937,792 (GRCm39) probably null Het
H2-Aa A G 17: 34,502,207 (GRCm39) I155T possibly damaging Het
Haus5 A G 7: 30,356,670 (GRCm39) S479P probably damaging Het
Il10ra A T 9: 45,167,654 (GRCm39) V299D probably benign Het
Il17re T C 6: 113,446,665 (GRCm39) V472A probably damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Inppl1 T C 7: 101,472,584 (GRCm39) E1237G possibly damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klhl35 T C 7: 99,119,427 (GRCm39) L304P probably damaging Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Med15 G T 16: 17,491,018 (GRCm39) probably benign Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Mroh1 A G 15: 76,320,249 (GRCm39) T1008A probably benign Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Mug2 C A 6: 122,048,801 (GRCm39) H856N probably benign Het
Naca T A 10: 127,879,590 (GRCm39) probably benign Het
Nagk G T 6: 83,776,336 (GRCm39) V184F probably damaging Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncor2 T A 5: 125,102,489 (GRCm39) H2089L probably benign Het
Nek6 A G 2: 38,472,458 (GRCm39) I261V probably damaging Het
Neurod2 G A 11: 98,218,558 (GRCm39) T202M probably damaging Het
Nlgn2 A G 11: 69,716,726 (GRCm39) V605A probably damaging Het
Nlrp5 A C 7: 23,123,335 (GRCm39) E732A possibly damaging Het
Nt5dc1 A T 10: 34,189,667 (GRCm39) V340D probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10x1 A T 1: 174,196,734 (GRCm39) I84L probably benign Het
Or52l1 A G 7: 104,830,079 (GRCm39) I162T possibly damaging Het
Or52z15 T C 7: 103,332,750 (GRCm39) I265T probably damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pcdhb12 T A 18: 37,570,683 (GRCm39) W610R possibly damaging Het
Pias2 T A 18: 77,185,139 (GRCm39) C66* probably null Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Prpf8 T G 11: 75,395,570 (GRCm39) V1899G probably damaging Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
R3hdm2 T C 10: 127,334,337 (GRCm39) I947T possibly damaging Het
Raet1d A G 10: 22,247,350 (GRCm39) D142G probably damaging Het
Rbbp8nl C T 2: 179,925,106 (GRCm39) R33Q probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Rptn A T 3: 93,304,017 (GRCm39) H450L possibly damaging Het
Scn11a T A 9: 119,608,102 (GRCm39) K1010* probably null Het
Slc16a10 G A 10: 39,932,602 (GRCm39) Q33* probably null Het
Slc31a1 C T 4: 62,303,842 (GRCm39) probably benign Het
Slc34a1 A T 13: 55,548,963 (GRCm39) K138* probably null Het
Slc6a18 T A 13: 73,818,162 (GRCm39) E285V probably benign Het
Slco6c1 T A 1: 97,000,707 (GRCm39) T515S probably damaging Het
Snrnp40 T A 4: 130,279,768 (GRCm39) S295T probably damaging Het
Snx4 A T 16: 33,104,808 (GRCm39) Y252F possibly damaging Het
Spata18 T A 5: 73,828,482 (GRCm39) F348I probably damaging Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tcp10b A G 17: 13,300,513 (GRCm39) K399E possibly damaging Het
Tcstv3 A G 13: 120,779,260 (GRCm39) H53R probably damaging Het
Tnrc6c A G 11: 117,613,831 (GRCm39) K823R probably damaging Het
Trim31 A G 17: 37,212,692 (GRCm39) E221G probably benign Het
Trim47 T A 11: 115,998,605 (GRCm39) Q338L probably damaging Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Usp9y A G Y: 1,303,371 (GRCm39) probably null Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vldlr T C 19: 27,218,709 (GRCm39) V147A probably damaging Het
Vmn1r115 C T 7: 20,578,198 (GRCm39) R238H probably benign Het
Vmn1r175 C A 7: 23,508,218 (GRCm39) R136S probably benign Het
Vmn1r53 A G 6: 90,201,268 (GRCm39) S19P possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp362 G T 4: 128,684,069 (GRCm39) P13T probably damaging Het
Zfp825 A G 13: 74,629,064 (GRCm39) C151R 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
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'- GTGGTGACGCTCTTCTAAAGG -3'
(R):5'- TGTACAAGTTTCGGAAGACTCG -3'

Sequencing Primer
(F):5'- CTCTTCTAAAGGAAAAGCTAGACG -3'
(R):5'- TTTCGGAAGACTCGGGCAAG -3'
Posted On 2014-06-30