Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Edem1'

30272

Institutional Source

Beutler Lab

Gene Symbol

Edem1

Ensembl Gene

ENSMUSG00000030104

Gene Name

ER degradation enhancer, mannosidase alpha-like 1

Synonyms

A130059K23Rik

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108805602-108836317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108823713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 370 (Y370N)

Ref Sequence

ENSEMBL: ENSMUSP00000144901 (fasta)

Gene Model

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

AlphaFold

Q925U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000089162
AA Change: Y370N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: Y370N

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: ENSMUST00000203469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204524

Predicted Effect

probably damaging
Transcript: ENSMUST00000204804
AA Change: Y370N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: Y370N

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

Meta Mutation Damage Score

0.9747

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	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
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

Predicted Primers

PCR Primer
(F):5'- CACTGTGGGAAAGCAAAATGTTGAGTC -3'
(R):5'- ACTGGGCAGGTACATTTCTAAACACAC -3'

Sequencing Primer
(F):5'- GCATACACCTGACTGCTATAGAGTG -3'
(R):5'- TCTAAACACACTGTATGGCAAAG -3'

Posted On

2013-04-24