Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Erlec1'

576907

Institutional Source

Beutler Lab

Gene Symbol

Erlec1

Ensembl Gene

ENSMUSG00000020311

Gene Name

endoplasmic reticulum lectin 1

Synonyms

4933407N01Rik

MMRRC Submission

045516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30880774-30904335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30900818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 117 (I117V)

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: I117V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072929
Gene: ENSMUSG00000020311
AA Change: I117V

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

0.1364

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,628,626 (GRCm39)	T403I	probably damaging	Het
Adat1	A	T	8: 112,716,530 (GRCm39)	M64K	probably damaging	Het
Adcy2	C	T	13: 68,944,786 (GRCm39)	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,941,636 (GRCm39)	S508P	possibly damaging	Het
Ap1g1	T	A	8: 110,529,356 (GRCm39)		probably null	Het
Bicral	C	T	17: 47,136,710 (GRCm39)	G167R	probably damaging	Het
Ccser2	T	C	14: 36,620,174 (GRCm39)	K727E	possibly damaging	Het
Cep350	T	G	1: 155,816,518 (GRCm39)	K332N	probably damaging	Het
Cfap68	A	G	9: 50,676,213 (GRCm39)	V35A	probably benign	Het
Chd5	A	G	4: 152,469,108 (GRCm39)	N1811S	probably benign	Het
Chpf	A	T	1: 75,452,245 (GRCm39)	V565D	probably damaging	Het
Clcn6	A	T	4: 148,098,652 (GRCm39)	L489H	probably damaging	Het
Cntln	C	A	4: 84,981,453 (GRCm39)	T877K	possibly damaging	Het
Cog4	T	C	8: 111,606,338 (GRCm39)	V630A	probably benign	Het
Col6a5	G	T	9: 105,758,630 (GRCm39)	S2192*	probably null	Het
Cry2	G	A	2: 92,243,983 (GRCm39)	R397W	probably damaging	Het
Cstdc2	A	C	2: 148,688,911 (GRCm39)	C109W	probably damaging	Het
Cyp1b1	T	C	17: 80,020,986 (GRCm39)	N252S	probably damaging	Het
Dhx9	T	C	1: 153,356,977 (GRCm39)	I91V	probably benign	Het
Dnajb6	G	A	5: 29,962,857 (GRCm39)	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,266,619 (GRCm39)	Y121*	probably null	Het
Exoc8	T	C	8: 125,622,520 (GRCm39)	M616V	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fuz	T	C	7: 44,545,996 (GRCm39)	L46P	probably damaging	Het
Insc	T	C	7: 114,444,278 (GRCm39)	S422P	possibly damaging	Het
Intu	A	G	3: 40,651,981 (GRCm39)	I813V	probably benign	Het
Jak3	T	A	8: 72,133,362 (GRCm39)	S352T	probably benign	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Lrrc63	T	C	14: 75,358,453 (GRCm39)	N400D	possibly damaging	Het
Lrrk1	T	C	7: 65,940,602 (GRCm39)	D760G	probably damaging	Het
Macf1	A	T	4: 123,349,239 (GRCm39)	L3976*	probably null	Het
Map7	C	T	10: 20,137,605 (GRCm39)	A259V	probably damaging	Het
Meioc	T	A	11: 102,565,063 (GRCm39)	D170E	possibly damaging	Het
Mgat5b	T	A	11: 116,859,271 (GRCm39)	Y34*	probably null	Het
Mgst1	A	G	6: 138,127,842 (GRCm39)	K68R	probably benign	Het
Miga1	T	A	3: 152,043,683 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,413 (GRCm39)	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,414,033 (GRCm39)	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 79,249,546 (GRCm39)	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,643,770 (GRCm39)	D57V	probably damaging	Het
Nlrp1a	T	C	11: 70,983,150 (GRCm39)	D1272G	probably damaging	Het
Oit3	T	C	10: 59,265,392 (GRCm39)	N291S	probably damaging	Het
Or1b1	A	T	2: 36,995,181 (GRCm39)	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,095,419 (GRCm39)	S251A	probably benign	Het
Polr1h	T	A	17: 37,268,736 (GRCm39)	L75F	probably benign	Het
Potefam3a	C	T	8: 20,356,948 (GRCm38)	S254N	unknown	Het
Ppfibp1	T	C	6: 146,921,001 (GRCm39)	S580P	probably benign	Het
Prdx6b	A	T	2: 80,123,560 (GRCm39)	D123V	probably damaging	Het
Ptprs	A	G	17: 56,731,256 (GRCm39)	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,065,110 (GRCm39)	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,031,065 (GRCm39)	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,429,054 (GRCm39)	V371A	probably benign	Het
Sfxn4	A	G	19: 60,830,642 (GRCm39)	L260P	possibly damaging	Het
Slc17a1	G	A	13: 24,062,466 (GRCm39)	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,452,918 (GRCm39)	V8M	probably damaging	Het
Smpd2	A	G	10: 41,365,012 (GRCm39)	I78T	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Syt17	A	T	7: 117,981,107 (GRCm39)	V462E	probably damaging	Het
Tlr11	T	A	14: 50,598,801 (GRCm39)	D262E	probably benign	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Trpv3	C	A	11: 73,168,800 (GRCm39)	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,094,281 (GRCm39)	Y170H	probably benign	Het
Urb1	A	G	16: 90,584,296 (GRCm39)	L562P	probably damaging	Het
Usp3	G	T	9: 66,437,537 (GRCm39)	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,055,556 (GRCm39)	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,694,539 (GRCm39)	Y436F	probably benign	Het
Vps13d	A	G	4: 144,854,981 (GRCm39)	I2220T		Het
Zfp936	T	A	7: 42,836,685 (GRCm39)	V32D	probably damaging	Het
Zswim2	A	G	2: 83,751,063 (GRCm39)	C259R	probably damaging	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
R7235:Erlec1	UTSW	11	30,900,751 (GRCm39)	missense	possibly damaging	0.91
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'- TCTTAGCCAACATATTCCCAAGG -3'
(R):5'- TAGCCCGATAGTTATTACAGACC -3'

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

Posted On

2019-10-07