Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Edem1'

423409

Institutional Source

Beutler Lab

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: 0.695) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108805602-108836317 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108825793 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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,785,454 (GRCm39)	S142L	probably benign	Het
Apol11a	A	G	15: 77,400,953 (GRCm39)	T147A	probably benign	Het
Aqp9	T	C	9: 71,030,292 (GRCm39)		probably null	Het
Arhgap25	T	A	6: 87,440,243 (GRCm39)	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,553,636 (GRCm39)	S924R	probably damaging	Het
Atad3a	A	T	4: 155,840,146 (GRCm39)	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,216,316 (GRCm39)	I136V	probably damaging	Het
Col24a1	C	A	3: 145,167,280 (GRCm39)	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,865,989 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,542,805 (GRCm39)	I2455T	probably benign	Het
Dock2	T	C	11: 34,178,643 (GRCm39)	T1795A	probably benign	Het
Dpp6	A	T	5: 27,914,538 (GRCm39)	E541V	probably benign	Het
Fbxo41	A	G	6: 85,455,465 (GRCm39)	V573A	probably damaging	Het
Fech	A	C	18: 64,597,191 (GRCm39)	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gal3st4	T	G	5: 138,263,983 (GRCm39)	K339Q	probably benign	Het
Gpr158	T	A	2: 21,832,316 (GRCm39)	S1139T	probably benign	Het
Gpr180	A	T	14: 118,397,468 (GRCm39)	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Grin2c	T	G	11: 115,146,881 (GRCm39)	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,562,125 (GRCm39)	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,631,123 (GRCm39)	I892F	probably damaging	Het
Ifi207	C	T	1: 173,555,097 (GRCm39)	V869I	probably benign	Het
Itgad	T	C	7: 127,788,458 (GRCm39)	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj15	A	G	16: 95,097,508 (GRCm39)	K377E	probably damaging	Het
Kcnq3	A	G	15: 65,897,073 (GRCm39)	S276P	probably damaging	Het
Klhl26	T	C	8: 70,904,968 (GRCm39)	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,739,791 (GRCm39)	V376I	probably benign	Het
Lrrc37	T	C	11: 103,504,699 (GRCm39)	Q2423R	probably benign	Het
Mepce	T	A	5: 137,784,889 (GRCm39)	R29S	probably benign	Het
Mlh3	A	G	12: 85,292,535 (GRCm39)		probably null	Het
Mlip	T	A	9: 77,150,958 (GRCm39)	T33S	probably damaging	Het
Msantd5f6	T	A	4: 73,321,754 (GRCm39)	M94L	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ncapg2	T	C	12: 116,390,257 (GRCm39)	I402T	probably damaging	Het
Or2aj6	C	G	16: 19,443,241 (GRCm39)	G203A	probably benign	Het
Or5m13b	T	C	2: 85,754,058 (GRCm39)	Y149H	probably damaging	Het
Pcsk5	T	C	19: 17,439,215 (GRCm39)	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,853,165 (GRCm39)	M213V	probably benign	Het
Plxdc1	T	C	11: 97,846,931 (GRCm39)	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,039,406 (GRCm39)	L373P	probably damaging	Het
Prickle2	A	G	6: 92,402,665 (GRCm39)	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,129,548 (GRCm39)	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,059,809 (GRCm39)	D903G	probably damaging	Het
Slc34a1	T	C	13: 24,003,034 (GRCm39)	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,087,364 (GRCm39)	E1025G	possibly damaging	Het
Sult1c2	T	G	17: 54,271,758 (GRCm39)	D143A	probably damaging	Het
Taar1	T	G	10: 23,796,443 (GRCm39)	I47R	probably damaging	Het
Tctn3	G	T	19: 40,591,266 (GRCm39)	Q514K	probably benign	Het
Tg	T	C	15: 66,549,904 (GRCm39)	F222S	probably damaging	Het
Tmem236	C	A	2: 14,223,871 (GRCm39)	T220K	possibly damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,534,942 (GRCm39)	F222L	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,899,803 (GRCm39)	Y52C	probably 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
IGL00648:Edem1	APN	6	108,828,168 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGGACAGAGTGACCTTC -3'
(R):5'- TTACTCCCTGGAGCTAGGCTAG -3'

Sequencing Primer
(F):5'- GGGACAGAGTGACCTTCCCTTTC -3'
(R):5'- TAGGCTAGCAACAGTCAACC -3'

Posted On

2016-08-04