Mutagenetix > Incidental Mutation

Incidental Mutation 'R6808:Dlec1'

533660

Institutional Source

Beutler Lab

Gene Symbol

Dlec1

Ensembl Gene

ENSMUSG00000038060

Gene Name

deleted in lung and esophageal cancer 1

Synonyms

D630005C06Rik

MMRRC Submission

044921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6808 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

118931546-118977314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118955242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 642 (H642R)

Ref Sequence

ENSEMBL: ENSMUSP00000128874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000055775

SMART Domains

Protein: ENSMUSP00000052645
Gene: ENSMUSG00000038060

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140326
AA Change: H642R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: H642R

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: H642R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: H642R

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,098 (GRCm39)	I53F	probably damaging	Het
Apol7b	T	A	15: 77,308,873 (GRCm39)	D75V	probably damaging	Het
Brd8	C	T	18: 34,741,528 (GRCm39)	A387T	probably damaging	Het
Cacybp	T	C	1: 160,036,169 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,618,875 (GRCm39)	K444E	probably damaging	Het
Cers2	G	A	3: 95,228,320 (GRCm39)	R120H	probably benign	Het
Chd4	T	A	6: 125,099,086 (GRCm39)	C1587S	possibly damaging	Het
Col11a1	A	T	3: 113,888,593 (GRCm39)	K286N	possibly damaging	Het
Creld2	A	G	15: 88,709,413 (GRCm39)	N308S	probably damaging	Het
Cyp2d12	T	C	15: 82,440,934 (GRCm39)	S151P	probably damaging	Het
Eif6	T	C	2: 155,665,206 (GRCm39)	Y151C	probably damaging	Het
Erbb4	A	T	1: 68,079,462 (GRCm39)	M1206K	probably benign	Het
Fam178b	G	A	1: 36,639,216 (GRCm39)	T361M	probably damaging	Het
Fbxo10	A	G	4: 45,059,035 (GRCm39)	F234S	probably benign	Het
Gcc2	A	T	10: 58,094,064 (GRCm39)	E13D	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gtf3c5	T	C	2: 28,460,499 (GRCm39)	K367E	probably damaging	Het
Ifi204	T	C	1: 173,589,269 (GRCm39)	E54G	probably benign	Het
Kalrn	A	T	16: 33,848,346 (GRCm39)	I492N	probably damaging	Het
Kifbp	T	C	10: 62,410,923 (GRCm39)	N140S	possibly damaging	Het
Map2k5	A	G	9: 63,229,528 (GRCm39)	Y168H	probably benign	Het
Mbip	A	C	12: 56,384,383 (GRCm39)		probably null	Het
Mcmdc2	C	T	1: 10,004,242 (GRCm39)	T574I	probably damaging	Het
Or10a3b	T	C	7: 108,444,747 (GRCm39)	T157A	probably benign	Het
Or52j3	T	G	7: 102,836,511 (GRCm39)	D234E	probably benign	Het
Or5w22	A	T	2: 87,363,285 (GRCm39)	M303L	probably benign	Het
Or8d2	T	A	9: 38,760,085 (GRCm39)	I225N	probably damaging	Het
Or8g33	T	C	9: 39,337,836 (GRCm39)	Y177C	probably damaging	Het
Or9s27	A	T	1: 92,516,768 (GRCm39)	R239W	probably damaging	Het
Pdzd8	A	G	19: 59,287,957 (GRCm39)	*1148Q	probably null	Het
Phactr1	T	A	13: 43,286,445 (GRCm39)	I582N	probably damaging	Het
Phf20l1	T	G	15: 66,502,762 (GRCm39)	L714R	probably damaging	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rcor3	T	C	1: 191,822,179 (GRCm39)	E6G	possibly damaging	Het
Skic3	T	C	13: 76,333,298 (GRCm39)	S1516P	probably damaging	Het
Sptlc2	G	A	12: 87,397,069 (GRCm39)	T239I	possibly damaging	Het
Tmc1	A	T	19: 20,772,880 (GRCm39)	V707D	probably damaging	Het
Tmem63b	T	A	17: 45,971,734 (GRCm39)	E827V	probably benign	Het
Triml1	A	G	8: 43,594,258 (GRCm39)	S58P	probably damaging	Het
Zdbf2	A	G	1: 63,347,687 (GRCm39)	H2022R	possibly damaging	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
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
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'- TGTGGGAAAAGCTTGAAGCC -3'
(R):5'- GGCACAGCTGTAGTTTCAGG -3'

Sequencing Primer
(F):5'- AAAGCTTGAAGCCTGATCTGGTC -3'
(R):5'- CCTGTCACTGGCTAAGGAATGAC -3'

Posted On

2018-09-12