Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Dlec1'

668178

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119102478-119148246 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 119143267 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000140326

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060

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 null
Transcript: ENSMUST00000165231

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	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
R8481:Dlec1	UTSW	9	119143267	splice site	probably null
R8485:Dlec1	UTSW	9	119128591	missense	probably benign	0.33
R8520:Dlec1	UTSW	9	119112209	missense	probably benign	0.00
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
R9452:Dlec1	UTSW	9	119112473	missense	probably benign	0.05
R9467:Dlec1	UTSW	9	119142584	missense	probably damaging	1.00
R9612:Dlec1	UTSW	9	119127465	missense	probably damaging	0.98
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'- CGAGGCTACTGTGTTCCTTC -3'
(R):5'- TCTCTCAAAGAGGACAGGGG -3'

Sequencing Primer
(F):5'- TCCAGGTCATCCCAGCTG -3'
(R):5'- GCAGGGGAGGGAGGTCC -3'

Posted On

2021-03-19