Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Erlec1'

326424

Institutional Source

Beutler Lab

Gene Symbol

Erlec1

Ensembl Gene

ENSMUSG00000020311

Gene Name

endoplasmic reticulum lectin 1

Synonyms

4933407N01Rik

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30880774-30904335 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 30893697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073192] [ENSMUST00000129593] [ENSMUST00000203878]

AlphaFold

Q8VEH8

Predicted Effect

probably null
Transcript: ENSMUST00000073192

SMART Domains

Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:PRKCSH	111	199	6.6e-21	PFAM
Pfam:PRKCSH	342	421	2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129593

SMART Domains

Protein: ENSMUSP00000129078
Gene: ENSMUSG00000020311

Domain	Start	End	E-Value	Type
SCOP:d1c39a_	2	52	1e-3	SMART
Pfam:PRKCSH	149	225	1.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143126

SMART Domains

Protein: ENSMUSP00000126490
Gene: ENSMUSG00000020311

Domain	Start	End	E-Value	Type
Pfam:PRKCSH	52	80	2.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155304

Predicted Effect

probably benign
Transcript: ENSMUST00000203878

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
ANK	48	77	3.5e-2	SMART
ANK	81	110	8e-3	SMART
ANK	117	146	4.8e-5	SMART
ANK	150	179	1.7e-7	SMART
ANK	184	213	1.8e-4	SMART
ANK	217	246	1.8e-6	SMART
ANK	250	279	1.2e-7	SMART
ANK	285	315	1.1e0	SMART
ANK	318	347	1.2e-3	SMART
ANK	354	385	7.7e-1	SMART
SOCS	493	542	2.8e-4	SMART
SOCS_box	499	541	1.6e-17	SMART

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,822,435 (GRCm39)		probably null	Het
Abca13	A	C	11: 9,259,034 (GRCm39)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,056,724 (GRCm39)		noncoding transcript	Het
Anapc1	T	C	2: 128,518,169 (GRCm39)		probably null	Het
Bmp7	T	G	2: 172,758,335 (GRCm39)	D178A	probably benign	Het
Brsk1	T	A	7: 4,701,749 (GRCm39)	I170N	probably damaging	Het
Bub3	C	T	7: 131,168,064 (GRCm39)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,277,479 (GRCm39)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,842,179 (GRCm39)	K20N	probably benign	Het
Clec12a	A	T	6: 129,330,427 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,569,770 (GRCm39)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 26,728,700 (GRCm39)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,059,917 (GRCm39)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,375 (GRCm39)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,385,196 (GRCm39)		probably benign	Het
Efcab5	T	A	11: 76,981,284 (GRCm39)	N1354I	probably damaging	Het
Eif4b	T	A	15: 101,995,076 (GRCm39)		probably null	Het
Esp24	T	C	17: 39,350,968 (GRCm39)		probably benign	Het
Esp34	T	C	17: 38,870,382 (GRCm39)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,397,300 (GRCm39)		probably benign	Het
Foxc2	T	C	8: 121,844,191 (GRCm39)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 113,068,002 (GRCm39)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,477,204 (GRCm39)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,289,483 (GRCm39)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ift56	A	G	6: 38,358,492 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,585,880 (GRCm39)	Y83H	probably damaging	Het
Mdga1	T	C	17: 30,069,630 (GRCm39)	T413A	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,119,573 (GRCm39)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,187,311 (GRCm39)	R133C	probably damaging	Het
Myh13	A	C	11: 67,235,707 (GRCm39)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm39)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,290,284 (GRCm39)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,674,690 (GRCm39)		noncoding transcript	Het
Or4k15c	A	G	14: 50,322,060 (GRCm39)	F26S	probably benign	Het
Otog	T	C	7: 45,934,548 (GRCm39)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,248,334 (GRCm39)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,670,490 (GRCm39)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,189,655 (GRCm39)	T678A	probably damaging	Het
Scaper	T	A	9: 55,765,399 (GRCm39)	E557V	probably damaging	Het
Scube3	C	T	17: 28,383,762 (GRCm39)	P511L	probably null	Het
Sgpl1	A	G	10: 60,940,231 (GRCm39)		probably benign	Het
Slc10a1	C	A	12: 81,014,578 (GRCm39)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,117,896 (GRCm39)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,710,198 (GRCm39)	T344A	probably benign	Het
Tgm4	C	T	9: 122,895,817 (GRCm39)	T631I	probably benign	Het
Tmprss15	A	G	16: 78,821,326 (GRCm39)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,637,429 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,690,458 (GRCm39)	W207R	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Usp2	A	T	9: 44,002,556 (GRCm39)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,207,135 (GRCm39)	V169I	probably benign	Het
Vopp1	A	C	6: 57,739,461 (GRCm39)	F29C	probably damaging	Het
Wrn	T	C	8: 33,741,860 (GRCm39)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,287,707 (GRCm39)	C419*	probably null	Het

Other mutations in Erlec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Erlec1	APN	11	30,898,510 (GRCm39)	missense	possibly damaging	0.84
IGL00537:Erlec1	APN	11	30,889,591 (GRCm39)	missense	probably benign	0.04
IGL00766:Erlec1	APN	11	30,900,623 (GRCm39)	nonsense	probably null
IGL01760:Erlec1	APN	11	30,884,731 (GRCm39)	missense	probably benign	0.34
IGL02505:Erlec1	APN	11	30,900,767 (GRCm39)	missense	probably damaging	1.00
IGL02633:Erlec1	APN	11	30,898,430 (GRCm39)	nonsense	probably null
R0674:Erlec1	UTSW	11	30,885,073 (GRCm39)	intron	probably benign
R1211:Erlec1	UTSW	11	30,898,298 (GRCm39)	critical splice donor site	probably null
R1974:Erlec1	UTSW	11	30,889,604 (GRCm39)	missense	possibly damaging	0.83
R4326:Erlec1	UTSW	11	30,899,972 (GRCm39)	missense	probably benign
R4328:Erlec1	UTSW	11	30,899,972 (GRCm39)	missense	probably benign
R4641:Erlec1	UTSW	11	30,898,442 (GRCm39)	nonsense	probably null
R4697:Erlec1	UTSW	11	30,902,640 (GRCm39)	missense	probably benign	0.27
R4917:Erlec1	UTSW	11	30,884,710 (GRCm39)	missense	possibly damaging	0.56
R5486:Erlec1	UTSW	11	30,885,047 (GRCm39)	missense	probably damaging	0.98
R5735:Erlec1	UTSW	11	30,900,591 (GRCm39)	missense	probably benign	0.00
R5775:Erlec1	UTSW	11	30,893,848 (GRCm39)	missense	probably benign	0.11
R6475:Erlec1	UTSW	11	30,898,442 (GRCm39)	nonsense	probably null
R7027:Erlec1	UTSW	11	30,900,790 (GRCm39)	missense	probably damaging	1.00
R7235:Erlec1	UTSW	11	30,900,751 (GRCm39)	missense	possibly damaging	0.91
R7440:Erlec1	UTSW	11	30,900,818 (GRCm39)	missense	possibly damaging	0.66
R8551:Erlec1	UTSW	11	30,881,829 (GRCm39)	missense	probably damaging	1.00
R8848:Erlec1	UTSW	11	30,898,411 (GRCm39)	missense	probably damaging	1.00
R9420:Erlec1	UTSW	11	30,885,054 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAGACAGCCATAGGAAATGTC -3'
(R):5'- GAACCCATAAGCATGTCTGTCTG -3'

Sequencing Primer
(F):5'- TATAATTAATGGGTGTGGATAAGGCG -3'
(R):5'- AGCATGTCTGTCTGCTTAATTTTAG -3'

Posted On

2015-07-06