Mutagenetix > Incidental Mutations

Incidental Mutation 'R8135:Edem1'

632218

Institutional Source

Beutler Lab

Gene Symbol

Edem1

Ensembl Gene

ENSMUSG00000030104

Gene Name

ER degradation enhancer, mannosidase alpha-like 1

Synonyms

A130059K23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R8135 (G1)

Quality Score

99.0078

Status

Not validated

Chromosome

Chromosomal Location

108828641-108859356 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 108829061 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 108 (E108*)

Ref Sequence

ENSEMBL: ENSMUSP00000086565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032196] [ENSMUST00000089162] [ENSMUST00000204804]

Predicted Effect

probably benign
Transcript: ENSMUST00000032196

SMART Domains

Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105

Domain	Start	End	E-Value	Type
ARF	1	185	4.46e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000089162
AA Change: E108*

SMART Domains

Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: E108*

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
low complexity region	70	92	N/A	INTRINSIC
Pfam:Glyco_hydro_47	132	581	1.1e-123	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000204804
AA Change: E108*

SMART Domains

Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: E108*

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
low complexity region	70	92	N/A	INTRINSIC
Pfam:Glyco_hydro_47	132	529	9.9e-97	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,696,995	I420V	probably benign	Het
Adam7	A	T	14: 68,516,573	M359K	probably damaging	Het
Adra1d	C	T	2: 131,561,772	A133T	probably damaging	Het
B3galnt2	T	A	13: 13,970,869		probably null	Het
Camk1g	A	G	1: 193,354,027	V175A	possibly damaging	Het
Cfi	A	G	3: 129,855,000	N178D	probably benign	Het
Csf2rb	T	A	15: 78,348,119	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,429,153	T183A	probably benign	Het
Dhx8	A	G	11: 101,738,264	D213G	unknown	Het
Dph7	T	C	2: 24,969,544	I271T	probably benign	Het
Enpp4	T	C	17: 44,101,335	T328A	probably benign	Het
Fasl	A	G	1: 161,787,128	V122A	probably benign	Het
Fut2	T	C	7: 45,651,142	T69A	probably damaging	Het
Gaa	T	C	11: 119,278,384		probably null	Het
Galnt5	T	A	2: 58,014,868	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,652,046	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,461,770	T107A	probably benign	Het
Iqcg	T	A	16: 33,029,024	K297N	probably benign	Het
Map2	A	G	1: 66,413,669	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,531,432	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,573	Y41N	possibly damaging	Het
Obscn	A	T	11: 59,031,877	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,285,925	F791L	probably damaging	Het
Phip	A	T	9: 82,930,374	N308K	probably benign	Het
Pigc	A	G	1: 161,970,565	K39E	possibly damaging	Het
Robo2	T	G	16: 73,933,160	I1050L	probably benign	Het
Rps2	A	G	17: 24,720,435	K54E	probably benign	Het
Set	T	A	2: 30,069,427	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,341,301	I100M	probably benign	Het
Spdye4b	T	C	5: 143,195,022	V81A	probably damaging	Het
Tbc1d2	T	C	4: 46,609,071	D722G	probably benign	Het
Tecpr1	T	A	5: 144,198,602	D1011V	probably damaging	Het
Unc80	A	T	1: 66,509,287	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,847,603	C277S	probably benign	Het
Vwa1	T	A	4: 155,772,894	D149V	probably damaging	Het
Zfp397	T	A	18: 23,956,507	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,812,426	D722G	probably damaging	Het

Other mutations in Edem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Edem1	APN	6	108855559	utr 3 prime	probably benign
IGL00648:Edem1	APN	6	108851207	splice site	probably null
IGL00694:Edem1	APN	6	108841601	missense	possibly damaging	0.95
IGL02231:Edem1	APN	6	108828888	missense	probably benign	0.06
IGL02967:Edem1	APN	6	108836777	missense	probably damaging	1.00
IGL03018:Edem1	APN	6	108829142	missense	probably damaging	0.98
PIT4468001:Edem1	UTSW	6	108844867	missense	probably damaging	0.98
R0050:Edem1	UTSW	6	108828848	missense	possibly damaging	0.91
R0367:Edem1	UTSW	6	108846752	missense	probably damaging	1.00
R1165:Edem1	UTSW	6	108851253	missense	probably damaging	1.00
R1354:Edem1	UTSW	6	108854316	missense	possibly damaging	0.93
R1385:Edem1	UTSW	6	108846684	missense	probably damaging	1.00
R1588:Edem1	UTSW	6	108841679	missense	probably damaging	1.00
R1964:Edem1	UTSW	6	108844947	missense	probably benign	0.03
R2060:Edem1	UTSW	6	108854287	missense	probably damaging	0.99
R2106:Edem1	UTSW	6	108848725	missense	probably damaging	0.98
R2393:Edem1	UTSW	6	108852543	missense	probably damaging	1.00
R2443:Edem1	UTSW	6	108851269	missense	probably benign	0.13
R3732:Edem1	UTSW	6	108841621	missense	probably damaging	1.00
R3732:Edem1	UTSW	6	108841621	missense	probably damaging	1.00
R3733:Edem1	UTSW	6	108841621	missense	probably damaging	1.00
R3734:Edem1	UTSW	6	108841621	missense	probably damaging	1.00
R4754:Edem1	UTSW	6	108841697	missense	probably damaging	1.00
R4791:Edem1	UTSW	6	108841634	missense	probably damaging	1.00
R4792:Edem1	UTSW	6	108828746	unclassified	probably benign
R5326:Edem1	UTSW	6	108854329	missense	possibly damaging	0.92
R5334:Edem1	UTSW	6	108848832	critical splice donor site	probably null
R5501:Edem1	UTSW	6	108843100	critical splice donor site	probably null
R5542:Edem1	UTSW	6	108854329	missense	possibly damaging	0.92
R5976:Edem1	UTSW	6	108842962	missense	probably damaging	0.99
R6177:Edem1	UTSW	6	108851198	splice site	probably null
R6556:Edem1	UTSW	6	108854357	missense	probably benign	0.00
R6835:Edem1	UTSW	6	108854399	missense	probably benign	0.00
R7192:Edem1	UTSW	6	108829004	missense	probably benign	0.00
R7239:Edem1	UTSW	6	108854380	missense	probably benign
R7442:Edem1	UTSW	6	108851305	nonsense	probably null
R7780:Edem1	UTSW	6	108841628	missense	probably benign	0.00
R7902:Edem1	UTSW	6	108854377	missense	possibly damaging	0.88
R8103:Edem1	UTSW	6	108852563	missense	probably damaging	1.00
R8359:Edem1	UTSW	6	108846813	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GCTTCAAAATAATGCCCGCG -3'
(R):5'- AAGACCCTGGTGTGTTCTCAG -3'

Sequencing Primer
(F):5'- ATGCAATGGCGAGCGCTTG -3'
(R):5'- TGTGTTCTCAGGGACCCG -3'

Posted On

2020-06-30