Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00648:Edem1'

10443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edem1

Ensembl Gene

ENSMUSG00000030104

Gene Name

ER degradation enhancer, mannosidase alpha-like 1

Synonyms

A130059K23Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

IGL00648

Quality Score

Status

Chromosome

Chromosomal Location

108805602-108836317 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 108828168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086565 (fasta)

Gene Model

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

AlphaFold

Q925U4

Predicted Effect

probably null
Transcript: ENSMUST00000089162

SMART Domains

Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cage1	G	T	13: 38,206,969 (GRCm39)	S398*	probably null	Het
Calr	T	A	8: 85,569,331 (GRCm39)		probably benign	Het
Cmah	A	T	13: 24,644,259 (GRCm39)	K459*	probably null	Het
Elp4	A	T	2: 105,672,711 (GRCm39)		probably benign	Het
Fam3b	C	T	16: 97,279,599 (GRCm39)	G110E	probably damaging	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Nbea	A	G	3: 55,916,681 (GRCm39)	S860P	probably damaging	Het
Nlrp1a	T	C	11: 70,983,783 (GRCm39)	T1082A	probably benign	Het
Pbrm1	A	T	14: 30,774,240 (GRCm39)	I469F	probably damaging	Het
Ptprq	G	A	10: 107,482,577 (GRCm39)	L999F	probably benign	Het
Taar6	C	T	10: 23,861,406 (GRCm39)	V47M	probably benign	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het

Other mutations in Edem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Edem1	APN	6	108,832,520 (GRCm39)	utr 3 prime	probably benign
IGL00694:Edem1	APN	6	108,818,562 (GRCm39)	missense	possibly damaging	0.95
IGL02231:Edem1	APN	6	108,805,849 (GRCm39)	missense	probably benign	0.06
IGL02967:Edem1	APN	6	108,813,738 (GRCm39)	missense	probably damaging	1.00
IGL03018:Edem1	APN	6	108,806,103 (GRCm39)	missense	probably damaging	0.98
PIT4468001:Edem1	UTSW	6	108,821,828 (GRCm39)	missense	probably damaging	0.98
R0050:Edem1	UTSW	6	108,805,809 (GRCm39)	missense	possibly damaging	0.91
R0367:Edem1	UTSW	6	108,823,713 (GRCm39)	missense	probably damaging	1.00
R1165:Edem1	UTSW	6	108,828,214 (GRCm39)	missense	probably damaging	1.00
R1354:Edem1	UTSW	6	108,831,277 (GRCm39)	missense	possibly damaging	0.93
R1385:Edem1	UTSW	6	108,823,645 (GRCm39)	missense	probably damaging	1.00
R1588:Edem1	UTSW	6	108,818,640 (GRCm39)	missense	probably damaging	1.00
R1964:Edem1	UTSW	6	108,821,908 (GRCm39)	missense	probably benign	0.03
R2060:Edem1	UTSW	6	108,831,248 (GRCm39)	missense	probably damaging	0.99
R2106:Edem1	UTSW	6	108,825,686 (GRCm39)	missense	probably damaging	0.98
R2393:Edem1	UTSW	6	108,829,504 (GRCm39)	missense	probably damaging	1.00
R2443:Edem1	UTSW	6	108,828,230 (GRCm39)	missense	probably benign	0.13
R3732:Edem1	UTSW	6	108,818,582 (GRCm39)	missense	probably damaging	1.00
R3732:Edem1	UTSW	6	108,818,582 (GRCm39)	missense	probably damaging	1.00
R3733:Edem1	UTSW	6	108,818,582 (GRCm39)	missense	probably damaging	1.00
R3734:Edem1	UTSW	6	108,818,582 (GRCm39)	missense	probably damaging	1.00
R4754:Edem1	UTSW	6	108,818,658 (GRCm39)	missense	probably damaging	1.00
R4791:Edem1	UTSW	6	108,818,595 (GRCm39)	missense	probably damaging	1.00
R4792:Edem1	UTSW	6	108,805,707 (GRCm39)	unclassified	probably benign
R5326:Edem1	UTSW	6	108,831,290 (GRCm39)	missense	possibly damaging	0.92
R5334:Edem1	UTSW	6	108,825,793 (GRCm39)	critical splice donor site	probably null
R5501:Edem1	UTSW	6	108,820,061 (GRCm39)	critical splice donor site	probably null
R5542:Edem1	UTSW	6	108,831,290 (GRCm39)	missense	possibly damaging	0.92
R5976:Edem1	UTSW	6	108,819,923 (GRCm39)	missense	probably damaging	0.99
R6177:Edem1	UTSW	6	108,828,159 (GRCm39)	splice site	probably null
R6556:Edem1	UTSW	6	108,831,318 (GRCm39)	missense	probably benign	0.00
R6835:Edem1	UTSW	6	108,831,360 (GRCm39)	missense	probably benign	0.00
R7192:Edem1	UTSW	6	108,805,965 (GRCm39)	missense	probably benign	0.00
R7239:Edem1	UTSW	6	108,831,341 (GRCm39)	missense	probably benign
R7442:Edem1	UTSW	6	108,828,266 (GRCm39)	nonsense	probably null
R7780:Edem1	UTSW	6	108,818,589 (GRCm39)	missense	probably benign	0.00
R7902:Edem1	UTSW	6	108,831,338 (GRCm39)	missense	possibly damaging	0.88
R8103:Edem1	UTSW	6	108,829,524 (GRCm39)	missense	probably damaging	1.00
R8135:Edem1	UTSW	6	108,806,022 (GRCm39)	nonsense	probably null
R8359:Edem1	UTSW	6	108,823,774 (GRCm39)	missense	probably benign	0.41
R9250:Edem1	UTSW	6	108,805,850 (GRCm39)	missense	probably benign
R9766:Edem1	UTSW	6	108,823,648 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06