Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Emid1'

502033

Institutional Source

Beutler Lab

Gene Symbol

Emid1

Ensembl Gene

ENSMUSG00000034164

Gene Name

EMI domain containing 1

Synonyms

CO-5, Emu1

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

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

Stock #

R6010 (G1)

Quality Score

68.0074

Status

Validated

Chromosome

Chromosomal Location

5056265-5102257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5085389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 119 (M119K)

Ref Sequence

ENSEMBL: ENSMUSP00000131391 (fasta)

Gene Model

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

AlphaFold

Q91VF5

Predicted Effect

probably benign
Transcript: ENSMUST00000062821
AA Change: M121K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
AA Change: M121K

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

probably benign
Transcript: ENSMUST00000132328

SMART Domains

Protein: ENSMUSP00000117779
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
low complexity region	1	44	N/A	INTRINSIC
Pfam:Collagen	59	113	4.5e-10	PFAM
Pfam:Collagen	89	152	2e-13	PFAM
low complexity region	154	169	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138551

Predicted Effect

probably benign
Transcript: ENSMUST00000156492
AA Change: M121K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124431
Gene: ENSMUSG00000034164
AA Change: M121K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163299
AA Change: M119K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
AA Change: M119K

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

0.1511

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm39)	I132M	possibly damaging	Het
Agap2	A	T	10: 126,926,779 (GRCm39)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,623,378 (GRCm39)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,914,285 (GRCm39)	D67G	probably damaging	Het
Avl9	G	A	6: 56,730,375 (GRCm39)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,246,305 (GRCm39)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,914,985 (GRCm39)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,591,363 (GRCm39)	V278I	possibly damaging	Het
Car10	A	G	11: 93,490,149 (GRCm39)	I297V	possibly damaging	Het
Cfap65	C	T	1: 74,962,190 (GRCm39)	C677Y	probably damaging	Het
Cfap74	T	A	4: 155,538,495 (GRCm39)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 47,091,158 (GRCm39)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,121,711 (GRCm39)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,796,917 (GRCm39)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,755,437 (GRCm39)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,574,066 (GRCm39)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm39)	V127A	probably benign	Het
Col6a3	C	T	1: 90,701,219 (GRCm39)	V2566I	unknown	Het
Cope	T	A	8: 70,761,162 (GRCm39)	M88K	probably damaging	Het
Cops4	A	G	5: 100,691,776 (GRCm39)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,487,820 (GRCm39)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,485,213 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,701,160 (GRCm39)	F217L	probably damaging	Het
Dmac1	A	G	4: 75,196,473 (GRCm39)	S6P	unknown	Het
Drd4	A	T	7: 140,874,709 (GRCm39)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,730,711 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,202,596 (GRCm39)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,858,153 (GRCm39)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,372,205 (GRCm39)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gucd1	G	T	10: 75,256,600 (GRCm39)		probably benign	Het
Helb	G	A	10: 119,941,788 (GRCm39)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,738,278 (GRCm39)	H28L	probably benign	Het
Kalrn	T	A	16: 33,830,950 (GRCm39)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,780,790 (GRCm39)	S554F	possibly damaging	Het
Med1	A	C	11: 98,049,188 (GRCm39)	V536G	probably damaging	Het
Nanog	A	C	6: 122,690,255 (GRCm39)	N195T	probably benign	Het
Neu1	C	T	17: 35,151,031 (GRCm39)	S94F	probably damaging	Het
Nop58	T	A	1: 59,740,071 (GRCm39)	S154R	probably damaging	Het
Npl	A	T	1: 153,388,314 (GRCm39)	L239*	probably null	Het
Nrg1	G	A	8: 32,308,600 (GRCm39)	T483M	probably damaging	Het
Nup98	G	T	7: 101,829,636 (GRCm39)	F391L	probably damaging	Het
Or4c122	A	T	2: 89,079,087 (GRCm39)	I305K	probably benign	Het
Or5ar1	T	C	2: 85,671,905 (GRCm39)	I77V	probably benign	Het
Or5d47	A	T	2: 87,804,886 (GRCm39)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,494,374 (GRCm39)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,266,020 (GRCm39)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,311,469 (GRCm39)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,887,488 (GRCm39)		probably null	Het
Psme2	C	A	14: 55,824,980 (GRCm39)		probably null	Het
Ptprc	T	A	1: 138,028,794 (GRCm39)	H468L	probably benign	Het
Rbp3	T	A	14: 33,676,604 (GRCm39)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 33,066,042 (GRCm39)	L301P	probably damaging	Het
Smim6	G	T	11: 115,804,219 (GRCm39)	G2V	probably damaging	Het
Snrpb2	A	G	2: 142,912,815 (GRCm39)	D146G	possibly damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm39)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,323,852 (GRCm39)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,990,373 (GRCm39)		probably null	Het
Upf1	A	G	8: 70,789,675 (GRCm39)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 11,994,349 (GRCm39)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,363,955 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 7,916,900 (GRCm39)		probably null	Het
Zfp385c	A	T	11: 100,548,363 (GRCm39)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,577,254 (GRCm39)	L108*	probably null	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
R2266:Emid1	UTSW	11	5,094,331 (GRCm39)	missense	probably damaging	0.97
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
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'- TTCAGACTCCCCTCTAGGTG -3'
(R):5'- CTTGCTGTGTGACCTCCTAGTG -3'

Sequencing Primer
(F):5'- TCCAGGCTGTCTGTCAGG -3'
(R):5'- GCTTCTCCCAGTATTAAGGGGAGC -3'

Posted On

2018-02-22