Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:Emid1'

242053

Institutional Source

Beutler Lab

Gene Symbol

Emid1

Ensembl Gene

ENSMUSG00000034164

Gene Name

EMI domain containing 1

Synonyms

CO-5, Emu1

MMRRC Submission

040266-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5056265-5102257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5094331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 60 (Q60L)

Ref Sequence

ENSEMBL: ENSMUSP00000131391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062821] [ENSMUST00000156492] [ENSMUST00000163299]

AlphaFold

Q91VF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000062821
AA Change: Q60L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
AA Change: Q60L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	34	101	8.7e-18	PFAM
low complexity region	200	211	N/A	INTRINSIC
low complexity region	220	267	N/A	INTRINSIC
Pfam:Collagen	282	342	5e-10	PFAM
Pfam:Collagen	312	377	4.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138551

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156492
AA Change: Q60L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124431
Gene: ENSMUSG00000034164
AA Change: Q60L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	33	103	3.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163299
AA Change: Q60L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
AA Change: Q60L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	33	101	7.3e-24	PFAM
low complexity region	198	209	N/A	INTRINSIC
low complexity region	218	265	N/A	INTRINSIC
Pfam:Collagen	280	340	5.1e-10	PFAM
Pfam:Collagen	310	375	4.3e-12	PFAM

Meta Mutation Damage Score

0.3058

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Ecpas	A	T	4: 58,830,332 (GRCm39)		probably null	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxh1	A	G	15: 76,552,820 (GRCm39)	V298A	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,047,314 (GRCm39)	H664L	probably damaging	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	probably benign	Het

Other mutations in Emid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Emid1	APN	11	5,093,859 (GRCm39)	missense	probably damaging	1.00
R0024:Emid1	UTSW	11	5,093,869 (GRCm39)	missense	probably damaging	1.00
R0063:Emid1	UTSW	11	5,139,704 (GRCm38)	intron	probably benign
R0684:Emid1	UTSW	11	5,093,866 (GRCm39)	missense	probably damaging	1.00
R2209:Emid1	UTSW	11	5,085,407 (GRCm39)	missense	probably benign	0.01
R4913:Emid1	UTSW	11	5,082,012 (GRCm39)	missense	probably benign	0.16
R4942:Emid1	UTSW	11	5,079,430 (GRCm39)	missense	probably benign	0.16
R4993:Emid1	UTSW	11	5,081,512 (GRCm39)	missense	probably benign	0.04
R6010:Emid1	UTSW	11	5,085,389 (GRCm39)	missense	possibly damaging	0.55
R8261:Emid1	UTSW	11	5,084,353 (GRCm39)	missense	probably benign	0.19
R8786:Emid1	UTSW	11	5,081,517 (GRCm39)	missense	probably benign
RF043:Emid1	UTSW	11	5,094,322 (GRCm39)	missense	probably damaging	1.00
T0975:Emid1	UTSW	11	5,094,386 (GRCm39)	missense	probably damaging	1.00
T0975:Emid1	UTSW	11	5,078,884 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CTAACTGTGCTGCTCAGAGC -3'
(R):5'- TGGTATCTCTGCCTGGAGACTG -3'

Sequencing Primer
(F):5'- GAAGTTTCCTCCTTACACAATGCTG -3'
(R):5'- CCTGGAGACTGGGGGCG -3'

Posted On

2014-10-16