Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01923:Dlec1'

180184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlec1

Ensembl Gene

ENSMUSG00000038060

Gene Name

deleted in lung and esophageal cancer 1

Synonyms

D630005C06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01923

Quality Score

Status

Chromosome

Chromosomal Location

118931546-118977314 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 118957182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

noncoding transcript
Transcript: ENSMUST00000124213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138736

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

noncoding transcript
Transcript: ENSMUST00000148611

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	A	5: 129,255,143 (GRCm39)	S597T	possibly damaging	Het
Btnl9	T	C	11: 49,071,409 (GRCm39)	D138G	probably benign	Het
Cep135	T	A	5: 76,788,829 (GRCm39)	*1141K	probably null	Het
Ctnnd2	A	T	15: 30,480,974 (GRCm39)	Q74L	probably damaging	Het
Cyp2j13	A	T	4: 95,950,294 (GRCm39)	W236R	probably benign	Het
Dixdc1	A	T	9: 50,606,803 (GRCm39)	I271N	possibly damaging	Het
Dnah9	C	A	11: 66,016,061 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,404,920 (GRCm39)	Y275F	probably damaging	Het
Dysf	T	A	6: 84,187,811 (GRCm39)	*2105R	probably null	Het
Eif4a1	A	T	11: 69,563,129 (GRCm39)	D25E	possibly damaging	Het
Fras1	T	A	5: 96,883,139 (GRCm39)	I2557N	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm12253	G	T	11: 58,325,727 (GRCm39)		probably null	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hsd17b7	A	G	1: 169,787,035 (GRCm39)	V254A	probably benign	Het
Kif21a	T	A	15: 90,840,633 (GRCm39)	D143V	probably damaging	Het
Lrrc9	T	C	12: 72,557,186 (GRCm39)	V1417A	possibly damaging	Het
Macf1	C	T	4: 123,274,237 (GRCm39)	A4926T	possibly damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Myh7	A	G	14: 55,222,916 (GRCm39)		probably null	Het
Or6c65	T	A	10: 129,603,973 (GRCm39)	F203I	probably benign	Het
Pbx2	A	G	17: 34,813,024 (GRCm39)	D160G	probably damaging	Het
Pcdhb17	T	C	18: 37,619,790 (GRCm39)	F527L	probably benign	Het
Ppm1b	T	C	17: 85,301,489 (GRCm39)	L123P	probably damaging	Het
Ppm1k	T	A	6: 57,499,813 (GRCm39)	K154N	probably benign	Het
Ppp2r1a	T	G	17: 21,185,731 (GRCm39)	*590G	probably null	Het
Raver1	A	T	9: 20,990,536 (GRCm39)	L589Q	probably damaging	Het
Rrbp1	A	G	2: 143,832,081 (GRCm39)	S29P	probably damaging	Het
Senp5	A	G	16: 31,784,634 (GRCm39)	Y673H	probably damaging	Het
Serpina3j	T	A	12: 104,281,473 (GRCm39)		probably benign	Het
Serpinc1	A	G	1: 160,817,116 (GRCm39)	E70G	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stag3	A	G	5: 138,287,492 (GRCm39)	Q139R	probably damaging	Het
Sva	T	A	6: 42,019,104 (GRCm39)	H91Q	probably benign	Het
Tmem263	C	T	10: 84,950,295 (GRCm39)	Q29*	probably null	Het
Tpp1	T	C	7: 105,400,857 (GRCm39)	N57D	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	A	6: 124,177,484 (GRCm39)	I507L	probably benign	Het
Wdr11	A	T	7: 129,234,046 (GRCm39)		probably null	Het
Zfp236	C	T	18: 82,700,344 (GRCm39)	E42K	probably 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
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
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

Posted On

2014-05-07