Mutagenetix > Incidental Mutation

Incidental Mutation 'R7235:Erlec1'

562778

Institutional Source

Beutler Lab

Gene Symbol

Erlec1

Ensembl Gene

ENSMUSG00000020311

Gene Name

endoplasmic reticulum lectin 1

Synonyms

4933407N01Rik

MMRRC Submission

045305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30880774-30904335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30900751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 139 (E139V)

Ref Sequence

ENSEMBL: ENSMUSP00000072929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020551] [ENSMUST00000073192] [ENSMUST00000117883] [ENSMUST00000129593] [ENSMUST00000137306] [ENSMUST00000203878]

AlphaFold

Q8VEH8

Predicted Effect

probably benign
Transcript: ENSMUST00000020551

SMART Domains

Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART
SOCS_box	460	502	2.1e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073192
AA Change: E139V

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: E139V

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: ENSMUST00000117883

SMART Domains

Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	1.23e0	SMART
ANK	78	107	7.3e-3	SMART
ANK	111	140	2.66e-5	SMART
ANK	145	174	2.73e-2	SMART
ANK	178	207	2.81e-4	SMART
ANK	211	240	1.88e-5	SMART
ANK	246	276	1.6e2	SMART
ANK	279	308	1.9e-1	SMART
ANK	315	346	1.17e2	SMART

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: ENSMUST00000137306

SMART Domains

Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
ANK	9	38	5.29e0	SMART
ANK	42	71	4.3e0	SMART

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

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

0.1779

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,852 (GRCm39)	M3712K	unknown	Het
Bri3bp	A	G	5: 125,518,748 (GRCm39)	E8G	unknown	Het
Brip1	C	T	11: 86,029,701 (GRCm39)	R611Q	possibly damaging	Het
Carm1	T	G	9: 21,498,701 (GRCm39)		probably benign	Het
Catsper4	A	T	4: 133,939,892 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cip2a	T	A	16: 48,821,422 (GRCm39)	L176H	probably damaging	Het
Clk4	A	G	11: 51,167,012 (GRCm39)	D330G	probably damaging	Het
Dcdc2c	A	G	12: 28,520,718 (GRCm39)	S453P		Het
Ddx46	G	A	13: 55,811,053 (GRCm39)	V550I	probably benign	Het
Dennd1a	T	C	2: 37,691,073 (GRCm39)	N676D	probably benign	Het
Dnah3	T	C	7: 119,631,893 (GRCm39)	N1365S	probably damaging	Het
Dsg1b	T	C	18: 20,532,480 (GRCm39)	V508A	probably benign	Het
Dus2	T	C	8: 106,742,587 (GRCm39)	V39A	possibly damaging	Het
Dync1li1	T	C	9: 114,544,231 (GRCm39)	V301A	possibly damaging	Het
Efcc1	T	G	6: 87,730,780 (GRCm39)	S513A	probably benign	Het
Eif3f	T	C	7: 108,537,295 (GRCm39)	V167A	possibly damaging	Het
Ephb2	A	G	4: 136,421,139 (GRCm39)	Y404H	probably damaging	Het
Eqtn	A	T	4: 94,811,936 (GRCm39)	D152E	probably damaging	Het
Ercc5	A	C	1: 44,217,363 (GRCm39)	K902T	possibly damaging	Het
Evl	G	A	12: 108,614,719 (GRCm39)	G38R	probably damaging	Het
Fads2b	T	G	2: 85,330,563 (GRCm39)	H248P	probably damaging	Het
Foxd2	T	C	4: 114,765,468 (GRCm39)	N184S	unknown	Het
Frem3	T	C	8: 81,417,354 (GRCm39)	Y2020H	probably benign	Het
Ganc	T	C	2: 120,264,198 (GRCm39)	F384L	probably damaging	Het
Grin2a	A	G	16: 9,397,129 (GRCm39)	L986P	probably damaging	Het
Ift140	A	T	17: 25,239,619 (GRCm39)	D92V	possibly damaging	Het
Inpp5b	A	G	4: 124,645,185 (GRCm39)	K158E	probably benign	Het
Iscu	T	A	5: 113,914,943 (GRCm39)	S152T	probably benign	Het
Isl2	C	T	9: 55,451,455 (GRCm39)	T115I	probably benign	Het
Kalrn	T	A	16: 33,996,131 (GRCm39)	T1542S	probably benign	Het
Kat6a	A	G	8: 23,404,285 (GRCm39)	D454G	possibly damaging	Het
Kcnj10	T	C	1: 172,196,993 (GRCm39)	I169T	probably damaging	Het
Klk12	T	C	7: 43,422,723 (GRCm39)	S217P	probably damaging	Het
Lancl1	T	C	1: 67,077,694 (GRCm39)	N14S	probably benign	Het
Map2	A	G	1: 66,453,807 (GRCm39)	Y899C	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Nr1h5	C	T	3: 102,856,358 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,774,491 (GRCm39)	T1515A	probably damaging	Het
Obscn	A	C	11: 58,971,666 (GRCm39)	V2183G	probably damaging	Het
Or52n2	C	T	7: 104,541,926 (GRCm39)	R303Q	probably benign	Het
Osbpl8	A	G	10: 111,105,288 (GRCm39)	T248A	probably benign	Het
Pias3	T	A	3: 96,611,679 (GRCm39)	S533T	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,317,573 (GRCm39)	Y680H	probably damaging	Het
Pnliprp2	A	G	19: 58,763,659 (GRCm39)	N436S	probably benign	Het
Pold1	T	A	7: 44,191,244 (GRCm39)	M196L	probably benign	Het
Prkdc	G	A	16: 15,532,127 (GRCm39)	V1464I	probably benign	Het
Ptk2b	G	A	14: 66,394,536 (GRCm39)	Q857*	probably null	Het
Qars1	T	A	9: 108,387,331 (GRCm39)	L185Q	probably damaging	Het
Rabep1	A	G	11: 70,831,290 (GRCm39)	N859S	probably benign	Het
Rnf19b	A	G	4: 128,977,571 (GRCm39)	H156R		Het
Sart3	T	C	5: 113,891,703 (GRCm39)	Q423R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc6a21	C	T	7: 44,930,182 (GRCm39)	H194Y	probably damaging	Het
Tcf4	G	A	18: 69,790,866 (GRCm39)	V420I	probably damaging	Het
Tjp1	T	C	7: 64,968,321 (GRCm39)	D701G	probably benign	Het
Trim42	T	C	9: 97,251,761 (GRCm39)	D46G	probably damaging	Het
Usp19	C	T	9: 108,372,123 (GRCm39)	R429*	probably null	Het
Uxs1	T	C	1: 43,804,087 (GRCm39)	N276S	probably damaging	Het
Vps50	A	G	6: 3,588,078 (GRCm39)	I684V	probably benign	Het
Yars2	T	A	16: 16,122,556 (GRCm39)	D307E	probably benign	Het
Zfp934	A	T	13: 62,665,964 (GRCm39)	C258S		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
R4392:Erlec1	UTSW	11	30,893,697 (GRCm39)	critical splice donor site	probably null
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
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'- TCTTAGCCAACATATTCCCAAGGTAG -3'
(R):5'- GAGCCAGTTAGTAGAAACCACATATAC -3'

Sequencing Primer
(F):5'- GCCAACATATTCCCAAGGTAGTATTC -3'
(R):5'- ACCACATATACCTCACAAGTTTTG -3'

Posted On

2019-06-26