Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02831:Dlec1'

361417

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 #

IGL02831

Quality Score

Status

Chromosome

Chromosomal Location

118931546-118977314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118972983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1499 (L1499R)

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

noncoding transcript
Transcript: ENSMUST00000137047

Predicted Effect

probably damaging
Transcript: ENSMUST00000140326
AA Change: L1499R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: L1499R

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: L1499R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: L1499R

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,943,907 (GRCm39)	V1121M	probably damaging	Het
Acrbp	C	A	6: 125,038,212 (GRCm39)	T471N	possibly damaging	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Casp7	A	G	19: 56,392,855 (GRCm39)	D3G	probably benign	Het
Coro1c	A	T	5: 113,982,469 (GRCm39)	C456S	probably benign	Het
Dnah8	T	C	17: 30,931,250 (GRCm39)	S1422P	probably benign	Het
Exd1	T	C	2: 119,359,235 (GRCm39)	D216G	probably damaging	Het
Fhit	T	C	14: 9,870,080 (GRCm38)	T130A	probably benign	Het
Frem1	A	T	4: 82,874,395 (GRCm39)	M1409K	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glb1l2	A	G	9: 26,678,746 (GRCm39)	V465A	probably benign	Het
Ints8	T	C	4: 11,245,896 (GRCm39)	Q194R	possibly damaging	Het
Ip6k2	C	T	9: 108,681,733 (GRCm39)		probably benign	Het
Kctd2	T	A	11: 115,321,166 (GRCm39)	*264K	probably null	Het
Krt34	C	A	11: 99,930,973 (GRCm39)		probably benign	Het
Lamc1	A	G	1: 153,122,801 (GRCm39)	S760P	probably benign	Het
Lrp1b	T	C	2: 41,083,603 (GRCm39)	N1702S	probably damaging	Het
Lrrc8e	T	A	8: 4,285,429 (GRCm39)	S551R	probably damaging	Het
Map3k20	T	C	2: 72,202,071 (GRCm39)	V139A	probably damaging	Het
Mrtfa	A	G	15: 80,988,994 (GRCm39)	L9P	probably benign	Het
Napsa	A	G	7: 44,236,184 (GRCm39)	T408A	probably benign	Het
Or2h15	T	C	17: 38,441,403 (GRCm39)	K227E	probably benign	Het
Or2w6	T	C	13: 21,843,074 (GRCm39)	I140V	probably benign	Het
Or5l13	T	C	2: 87,780,020 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,918,944 (GRCm39)	L305P	probably damaging	Het
Pkhd1l1	A	G	15: 44,364,889 (GRCm39)	H676R	probably benign	Het
Pld1	T	A	3: 28,130,574 (GRCm39)	V458E	probably damaging	Het
Ppp5c	A	G	7: 16,742,570 (GRCm39)	L256P	probably damaging	Het
Pyroxd2	G	T	19: 42,724,342 (GRCm39)	T307K	probably damaging	Het
Scart1	G	T	7: 139,808,434 (GRCm39)	V782L	probably benign	Het
Sin3b	A	G	8: 73,471,190 (GRCm39)	E379G	probably damaging	Het
Slc22a23	T	C	13: 34,483,052 (GRCm39)	T276A	possibly damaging	Het
Slc26a3	T	C	12: 31,502,628 (GRCm39)	I283T	probably damaging	Het
Sltm	A	G	9: 70,492,147 (GRCm39)	D712G	probably damaging	Het
Slu7	C	T	11: 43,333,480 (GRCm39)	Q367*	probably null	Het
Srbd1	T	C	17: 86,311,299 (GRCm39)	N706S	probably damaging	Het
Supt16	A	T	14: 52,408,335 (GRCm39)	M870K	possibly damaging	Het
Tnxb	T	C	17: 34,922,545 (GRCm39)	Y2453H	possibly damaging	Het
Tomm40	A	G	7: 19,437,014 (GRCm39)	Y274H	probably damaging	Het
Utp20	A	T	10: 88,651,770 (GRCm39)	D404E	probably benign	Het
Vmn2r23	T	A	6: 123,681,344 (GRCm39)	M84K	probably benign	Het
Wdr70	A	G	15: 7,913,787 (GRCm39)	Y621H	possibly damaging	Het
Wfdc8	C	T	2: 164,447,685 (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
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

2015-12-18