Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Dlec1'

484409

Institutional Source

Beutler Lab

Gene Symbol

Dlec1

Ensembl Gene

ENSMUSG00000038060

Gene Name

deleted in lung and esophageal cancer 1

Synonyms

D630005C06Rik

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6056 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

118931546-118977314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118950991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 519 (R519L)

Ref Sequence

ENSEMBL: ENSMUSP00000128874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055775] [ENSMUST00000140326] [ENSMUST00000165231]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055775
AA Change: R519L

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060
AA Change: R519L

Domain	Start	End	E-Value	Type
coiled coil region	127	154	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137047

Predicted Effect

probably damaging
Transcript: ENSMUST00000140326
AA Change: R519L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: R519L

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

probably damaging
Transcript: ENSMUST00000165231
AA Change: R519L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: R519L

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,115 (GRCm39)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,184,464 (GRCm39)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,508,123 (GRCm39)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,963 (GRCm39)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,748,132 (GRCm39)	K376R	probably benign	Het
Anxa5	A	G	3: 36,504,840 (GRCm39)	S241P	probably damaging	Het
Aox3	A	T	1: 58,209,018 (GRCm39)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,358,473 (GRCm39)	M415T	probably benign	Het
Aspa	T	A	11: 73,199,578 (GRCm39)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,438,782 (GRCm39)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,853,528 (GRCm39)	V719E	possibly damaging	Het
Bltp2	C	A	11: 78,162,210 (GRCm39)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,033,574 (GRCm39)	V1017G	probably damaging	Het
Chrna4	G	T	2: 180,671,235 (GRCm39)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,677,765 (GRCm39)	V329D	probably damaging	Het
Chst14	T	C	2: 118,758,214 (GRCm39)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,077,772 (GRCm39)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,380,263 (GRCm39)	S343A	probably benign	Het
Dapl1	C	A	2: 59,315,057 (GRCm39)	A2E	probably damaging	Het
Dmgdh	T	A	13: 93,845,251 (GRCm39)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,888,834 (GRCm39)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,892,191 (GRCm39)	T3661P	probably benign	Het
Dnah3	A	G	7: 119,629,254 (GRCm39)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 152,062,583 (GRCm39)		probably benign	Het
Dot1l	A	G	10: 80,621,929 (GRCm39)	E527G	probably damaging	Het
Drc7	T	C	8: 95,801,679 (GRCm39)	L680P	probably damaging	Het
Dysf	T	C	6: 84,083,844 (GRCm39)	Y742H	probably benign	Het
Ece1	A	G	4: 137,688,958 (GRCm39)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,081,533 (GRCm39)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,215,760 (GRCm39)	T247M	probably damaging	Het
Exoc2	T	C	13: 31,084,812 (GRCm39)	K383R	probably benign	Het
Fam227b	A	T	2: 125,962,972 (GRCm39)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,816,017 (GRCm39)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,892,338 (GRCm39)		probably benign	Het
Hgfac	T	A	5: 35,198,973 (GRCm39)	C11*	probably null	Het
Hmcn1	C	A	1: 150,539,660 (GRCm39)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,416,521 (GRCm39)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,649,120 (GRCm39)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,297,860 (GRCm39)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,077,577 (GRCm39)	S59P	probably benign	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kif1a	T	C	1: 92,952,370 (GRCm39)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,583,004 (GRCm39)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,388,484 (GRCm39)	Q2314K	unknown	Het
LTO1	G	T	7: 144,469,023 (GRCm39)	V17L	possibly damaging	Het
Lurap1	G	T	4: 115,994,599 (GRCm39)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,713,874 (GRCm39)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 120,242,341 (GRCm39)	L894V	probably benign	Het
Mefv	G	A	16: 3,525,906 (GRCm39)	S787F	possibly damaging	Het
Miip	T	A	4: 147,946,792 (GRCm39)	I289F	probably damaging	Het
Mogat2	T	A	7: 98,872,720 (GRCm39)	I155F	possibly damaging	Het
Mpp3	C	A	11: 101,902,515 (GRCm39)		probably null	Het
Mrrf	A	G	2: 36,067,233 (GRCm39)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,535,619 (GRCm39)	P485L	probably damaging	Het
Mtor	G	A	4: 148,621,892 (GRCm39)	R1896K	probably benign	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Nebl	A	G	2: 17,455,045 (GRCm39)	V112A	probably benign	Het
Nmnat2	G	A	1: 152,950,480 (GRCm39)	W55*	probably null	Het
Nprl3	A	G	11: 32,217,432 (GRCm39)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,421,445 (GRCm39)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,819,383 (GRCm39)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,876,165 (GRCm39)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,712,570 (GRCm39)	E884G	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Phf12	A	G	11: 77,900,341 (GRCm39)	T146A	probably benign	Het
Polr3k	C	G	2: 181,506,281 (GRCm39)	N10K	probably damaging	Het
Prickle4	C	A	17: 48,001,135 (GRCm39)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,709,398 (GRCm39)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,160 (GRCm39)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm39)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,444,335 (GRCm39)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,544,143 (GRCm39)	R136L	probably damaging	Het
Scube2	A	T	7: 109,432,220 (GRCm39)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,007,452 (GRCm39)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 107,869,458 (GRCm39)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,705,832 (GRCm39)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,362,560 (GRCm39)	I62T	probably benign	Het
Sowaha	G	A	11: 53,369,914 (GRCm39)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,886,794 (GRCm39)	N869S	probably benign	Het
Stx18	C	A	5: 38,263,908 (GRCm39)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,646,430 (GRCm39)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,275,624 (GRCm39)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm39)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,951,475 (GRCm39)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,801,603 (GRCm39)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,714,479 (GRCm39)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,244,552 (GRCm39)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,512,994 (GRCm39)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,139,797 (GRCm39)		probably null	Het
Uggt2	C	T	14: 119,273,381 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,102,021 (GRCm39)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,785,687 (GRCm39)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,976,680 (GRCm39)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,487,806 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,973,277 (GRCm39)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,553,178 (GRCm39)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,737,018 (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
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
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'- AGCAGGGTCCATTTGGAGTG -3'
(R):5'- TGACCGGAAGCATGCTATC -3'

Posted On

2017-07-14