Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Dlec1'

333726

Institutional Source

Beutler Lab

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 #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118931546-118977314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118957146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 796 (I796F)

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 damaging
Transcript: ENSMUST00000140326
AA Change: I796F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060
AA Change: I796F

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 damaging
Transcript: ENSMUST00000165231
AA Change: I796F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060
AA Change: I796F

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

0.2022

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
Ccr1	G	A	9: 123,764,437 (GRCm39)	A31V	probably benign	Het
Chrna6	A	T	8: 27,896,711 (GRCm39)	S389T	probably benign	Het
Clic6	C	T	16: 92,289,045 (GRCm39)		probably benign	Het
Cmya5	G	A	13: 93,228,426 (GRCm39)	R2221*	probably null	Het
Coq8b	G	T	7: 26,932,930 (GRCm39)	C13F	probably benign	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979 (GRCm39)	V118F	probably damaging	Het
Dnajc11	T	A	4: 152,064,398 (GRCm39)	D516E	probably damaging	Het
Dock8	G	A	19: 25,165,722 (GRCm39)	V1869M	probably damaging	Het
Dst	A	G	1: 34,227,819 (GRCm39)	D1982G	probably damaging	Het
Gnptab	G	A	10: 88,250,457 (GRCm39)	D190N	probably benign	Het
Golga4	A	G	9: 118,385,913 (GRCm39)	K22E	probably damaging	Het
Hecw2	T	C	1: 53,852,381 (GRCm39)	*1579W	probably null	Het
Ica1l	A	G	1: 60,052,977 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,867,549 (GRCm39)	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,412,315 (GRCm39)		probably null	Het
Klra13-ps	T	C	6: 130,268,232 (GRCm39)		noncoding transcript	Het
Mndal	A	T	1: 173,703,230 (GRCm39)	Y58*	probably null	Het
Mvb12b	G	C	2: 33,717,712 (GRCm39)	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,828,554 (GRCm39)	F102L	probably damaging	Het
Or1e30	T	C	11: 73,677,992 (GRCm39)	V76A	probably damaging	Het
Or5an11	T	C	19: 12,246,188 (GRCm39)	V198A	possibly damaging	Het
Or5b97	T	A	19: 12,878,632 (GRCm39)	K171*	probably null	Het
Pde8a	A	T	7: 80,977,847 (GRCm39)	R713S	probably damaging	Het
Rbks	T	C	5: 31,781,912 (GRCm39)	N296S	probably benign	Het
Sema3c	G	A	5: 17,899,770 (GRCm39)	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,875,565 (GRCm39)	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Uba52rt	C	T	4: 3,973,244 (GRCm39)	R106H	probably benign	Het
Vnn3	G	A	10: 23,732,224 (GRCm39)	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,421,032 (GRCm39)		noncoding transcript	Het
Zfp414	T	C	17: 33,850,622 (GRCm39)		probably benign	Het
Zfp810	G	A	9: 22,190,041 (GRCm39)	T289I	probably damaging	Het
Zfp819	G	T	7: 43,267,209 (GRCm39)	R488L	probably damaging	Het
Zfp942	C	T	17: 22,147,285 (GRCm39)	G448D	probably benign	Het
Zscan12	A	G	13: 21,550,875 (GRCm39)	K165E	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGATGGTCAGCAGCCAG -3'
(R):5'- TCAAAATCTCCGACCTCATTGG -3'

Sequencing Primer
(F):5'- GCAGAGCATCATATGATCCCTCGG -3'
(R):5'- ACCTCATTGGGCTCTGGAGAG -3'

Posted On

2015-08-18