Mutagenetix > Incidental Mutations

Incidental Mutation 'R8520:Dlec1'

658599

Institutional Source

Beutler Lab

Gene Symbol

Dlec1

Ensembl Gene

ENSMUSG00000038060

Gene Name

deleted in lung and esophageal cancer 1

Synonyms

D630005C06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119102478-119148246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119112209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 276 (S276P)

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 benign
Transcript: ENSMUST00000055775
AA Change: S276P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060
AA Change: S276P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140326
AA Change: S276P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: S276P

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 benign
Transcript: ENSMUST00000165231
AA Change: S276P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: S276P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124		probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,170	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862	M9T	probably benign	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	Het

Other mutations in Dlec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Dlec1	APN	9	119102785	missense	probably benign	0.11
IGL01137:Dlec1	APN	9	119137311	missense	probably damaging	1.00
IGL01338:Dlec1	APN	9	119120911	missense	probably damaging	1.00
IGL01652:Dlec1	APN	9	119143907	missense	probably benign	0.01
IGL01923:Dlec1	APN	9	119128114	splice site	probably null
IGL02186:Dlec1	APN	9	119143627	missense	probably benign	0.00
IGL02597:Dlec1	APN	9	119134536	missense	probably damaging	0.99
IGL02667:Dlec1	APN	9	119127466	missense	probably benign	0.23
IGL02718:Dlec1	APN	9	119137286	missense	probably benign	0.01
IGL02731:Dlec1	APN	9	119147120	missense	probably benign	0.00
IGL02831:Dlec1	APN	9	119143915	missense	probably damaging	1.00
IGL03390:Dlec1	APN	9	119123220	missense	probably benign	0.00
I2288:Dlec1	UTSW	9	119143601	missense	probably damaging	1.00
R0109:Dlec1	UTSW	9	119105824	missense	probably damaging	1.00
R0144:Dlec1	UTSW	9	119142866	missense	probably benign
R0554:Dlec1	UTSW	9	119115002	missense	probably benign	0.44
R0611:Dlec1	UTSW	9	119112099	missense	probably benign	0.01
R1344:Dlec1	UTSW	9	119130017	missense	probably benign	0.09
R1467:Dlec1	UTSW	9	119142578	missense	probably damaging	1.00
R1467:Dlec1	UTSW	9	119128003	splice site	probably benign
R1467:Dlec1	UTSW	9	119142578	missense	probably damaging	1.00
R1539:Dlec1	UTSW	9	119127450	missense	probably benign	0.00
R1768:Dlec1	UTSW	9	119146007	splice site	probably null
R1809:Dlec1	UTSW	9	119136699	missense	probably benign	0.00
R1830:Dlec1	UTSW	9	119138790	missense	probably benign	0.00
R1901:Dlec1	UTSW	9	119102644	missense	probably damaging	0.99
R2060:Dlec1	UTSW	9	119112086	missense	probably damaging	1.00
R2092:Dlec1	UTSW	9	119121844	missense	possibly damaging	0.87
R2237:Dlec1	UTSW	9	119138191	critical splice donor site	probably null
R2983:Dlec1	UTSW	9	119146173	missense	probably benign	0.00
R3117:Dlec1	UTSW	9	119143903	splice site	probably null
R3816:Dlec1	UTSW	9	119124843	missense	probably damaging	1.00
R3826:Dlec1	UTSW	9	119143061	splice site	probably benign
R3965:Dlec1	UTSW	9	119128581	missense	probably benign	0.01
R4023:Dlec1	UTSW	9	119137340	missense	probably damaging	0.98
R4024:Dlec1	UTSW	9	119137340	missense	probably damaging	0.98
R4026:Dlec1	UTSW	9	119137340	missense	probably damaging	0.98
R4272:Dlec1	UTSW	9	119143163	missense	probably damaging	0.98
R4545:Dlec1	UTSW	9	119128078	missense	probably damaging	0.99
R4546:Dlec1	UTSW	9	119128078	missense	probably damaging	0.99
R4601:Dlec1	UTSW	9	119147134	critical splice donor site	probably null
R4695:Dlec1	UTSW	9	119143153	missense	probably benign	0.00
R4996:Dlec1	UTSW	9	119146050	missense	probably damaging	1.00
R5321:Dlec1	UTSW	9	119112601	missense	probably benign	0.02
R5521:Dlec1	UTSW	9	119143401	missense	possibly damaging	0.92
R5650:Dlec1	UTSW	9	119143594	nonsense	probably null
R5825:Dlec1	UTSW	9	119142968	missense	probably damaging	1.00
R5941:Dlec1	UTSW	9	119126312	missense	probably damaging	0.98
R6056:Dlec1	UTSW	9	119121923	missense	probably damaging	0.98
R6111:Dlec1	UTSW	9	119102624	missense	possibly damaging	0.59
R6156:Dlec1	UTSW	9	119110213	critical splice donor site	probably null
R6160:Dlec1	UTSW	9	119143319	missense	probably benign	0.02
R6195:Dlec1	UTSW	9	119137253	missense	probably benign	0.00
R6364:Dlec1	UTSW	9	119121871	missense	possibly damaging	0.84
R6480:Dlec1	UTSW	9	119147690	missense	probably benign	0.34
R6808:Dlec1	UTSW	9	119126174	missense	probably benign	0.01
R6813:Dlec1	UTSW	9	119112102	missense	probably benign	0.02
R7019:Dlec1	UTSW	9	119112422	missense	probably benign	0.01
R7048:Dlec1	UTSW	9	119143404	splice site	probably null
R7187:Dlec1	UTSW	9	119112146	missense	probably benign	0.14
R7230:Dlec1	UTSW	9	119124538	splice site	probably null
R7585:Dlec1	UTSW	9	119142751	missense	probably benign	0.06
R8342:Dlec1	UTSW	9	119139389	missense	probably benign	0.01
R8480:Dlec1	UTSW	9	119143267	splice site	probably null
R8481:Dlec1	UTSW	9	119143267	splice site	probably null
R8485:Dlec1	UTSW	9	119128591	missense	probably benign	0.33
R8556:Dlec1	UTSW	9	119126221	missense	probably benign	0.13
R8755:Dlec1	UTSW	9	119138157	missense	probably damaging	1.00
R8805:Dlec1	UTSW	9	119112582	missense	probably benign
R8813:Dlec1	UTSW	9	119127430	missense	probably benign	0.16
R8983:Dlec1	UTSW	9	119128351	missense	probably benign	0.00
R9040:Dlec1	UTSW	9	119121917	missense	probably benign	0.04
R9085:Dlec1	UTSW	9	119124184	missense	probably damaging	1.00
Z1176:Dlec1	UTSW	9	119138786	missense	probably benign	0.13
Z1177:Dlec1	UTSW	9	119134473	missense	probably benign	0.34
Z1177:Dlec1	UTSW	9	119147409	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGGCGACACAACTAACGTG -3'
(R):5'- GCTTGTCTTCTTTGAAGCACAG -3'

Sequencing Primer
(F):5'- ACAACTAACGTGTGTTTCCTCGG -3'
(R):5'- GTCTTCTTTGAAGCACAGGAAAGC -3'

Posted On

2021-01-18