Mutagenetix > Incidental Mutations

Incidental Mutation 'R6556:Edem1'

522156

Institutional Source

Beutler Lab

Gene Symbol

Edem1

Ensembl Gene

ENSMUSG00000030104

Gene Name

ER degradation enhancer, mannosidase alpha-like 1

Synonyms

A130059K23Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108828641-108859356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108854357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 593 (F593S)

Ref Sequence

ENSEMBL: ENSMUSP00000086565 (fasta)

Gene Model

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

AlphaFold

Q925U4

Predicted Effect

probably benign
Transcript: ENSMUST00000089162
AA Change: F593S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: F593S

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

noncoding transcript
Transcript: ENSMUST00000203302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204524

Predicted Effect

probably benign
Transcript: ENSMUST00000204804

SMART Domains

Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	A	G	15: 81,980,738	D60G	probably damaging	Het
2310035C23Rik	T	A	1: 105,726,440	F845I	probably damaging	Het
4930539E08Rik	T	A	17: 28,904,611	D114V	probably damaging	Het
AF366264	G	A	8: 13,837,690	Q134*	probably null	Het
Atp2a1	G	T	7: 126,450,262	P536Q	probably benign	Het
Cabyr	T	A	18: 12,751,016	S187T	probably benign	Het
Camkk1	A	T	11: 73,033,870	N303I	probably benign	Het
Cdh13	C	T	8: 118,968,187	P259S	probably damaging	Het
Csnk1g3	A	G	18: 53,930,282	D255G	possibly damaging	Het
Dennd5b	A	C	6: 149,014,251		probably null	Het
Dnajc14	A	G	10: 128,814,631	D528G	probably benign	Het
Erbb2	G	A	11: 98,436,082	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,612,921	M794V	possibly damaging	Het
Fam208a	T	G	14: 27,429,258	Y64D	probably benign	Het
Fam214b	C	T	4: 43,033,896	R460H	probably damaging	Het
Fip1l1	T	A	5: 74,547,177		probably null	Het
Gm11639	A	G	11: 105,008,251	N4343S	probably null	Het
Gm20730	C	T	6: 43,081,542	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,808,665	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,523,554	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,742,472	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,329,555	F688S	probably damaging	Het
Iqcd	T	C	5: 120,602,378	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lpo	G	T	11: 87,817,763	Y136*	probably null	Het
Med30	A	G	15: 52,730,383		probably benign	Het
Mertk	T	A	2: 128,776,421	V524D	probably benign	Het
Olfr1156	T	C	2: 87,949,976	I86V	probably benign	Het
Olfr1261	T	A	2: 89,994,173	F260Y	probably benign	Het
Olfr1263	T	C	2: 90,015,094	Y55H	probably damaging	Het
Pde6b	T	A	5: 108,421,501	M358K	possibly damaging	Het
Prep	GA	G	10: 45,158,314		probably null	Het
Prpf4b	G	A	13: 34,896,032	R793Q	probably damaging	Het
Rela	T	A	19: 5,647,338	N524K	probably damaging	Het
Rnaset2a	T	C	17: 8,141,648	D74G	probably damaging	Het
Serinc2	T	A	4: 130,258,271	I267F	probably damaging	Het
Sesn3	T	C	9: 14,321,253	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,407	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,213,692	D367V	possibly damaging	Het
Tnnt1	T	C	7: 4,509,577	E110G	probably damaging	Het
Tpm1	T	A	9: 67,028,169		probably null	Het
Unc93b1	T	C	19: 3,944,105	V412A	probably benign	Het
Uox	G	C	3: 146,624,648		probably null	Het
Usp44	T	C	10: 93,846,008	Y107H	probably benign	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
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
R8135:Edem1	UTSW	6	108829061	nonsense	probably null
R8359:Edem1	UTSW	6	108846813	missense	probably benign	0.41
R9250:Edem1	UTSW	6	108828889	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTTAGTAGAGCTGTATGCCAG -3'
(R):5'- TGATGTGCCTATACTGCTGC -3'

Sequencing Primer
(F):5'- TTCATGCAGTGGCTAGCCTAGAAC -3'
(R):5'- GAGTATGCCACCTACTTCATGTGAG -3'

Posted On

2018-06-06