Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Edem1'

285711

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

Is this an essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

108828641-108859356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108828888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 50 (D50G)

Ref Sequence

ENSEMBL: ENSMUSP00000144901 (fasta)

Gene Model

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

AlphaFold

Q925U4

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 benign
Transcript: ENSMUST00000089162
AA Change: D50G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: D50G

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 benign
Transcript: ENSMUST00000204804
AA Change: D50G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: D50G

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	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
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
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
R9766:Edem1	UTSW	6	108846687	missense	probably damaging	1.00

Posted On

2015-04-16