Mutagenetix > Incidental Mutation

Incidental Mutation 'R4352:Emilin2'

327377

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

basilin, FOAP-10

MMRRC Submission

041668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71559167-71618551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71587726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 129 (M129V)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024849]

AlphaFold

Q8K482

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: M129V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: M129V

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:EMI	48	118	1.2e-18	PFAM
coiled coil region	181	216	N/A	INTRINSIC
coiled coil region	259	308	N/A	INTRINSIC
coiled coil region	590	618	N/A	INTRINSIC
low complexity region	809	826	N/A	INTRINSIC
low complexity region	833	848	N/A	INTRINSIC
low complexity region	914	927	N/A	INTRINSIC
Pfam:C1q	928	1067	5.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (79/82)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit disruptions in platelet activation, thrombus formation and clot retraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ankrd54	A	T	15: 78,939,662 (GRCm39)	F176I	probably benign	Het
Ano3	T	A	2: 110,576,239 (GRCm39)	E94V	possibly damaging	Het
Arid1b	A	T	17: 5,147,859 (GRCm39)	Q587L	possibly damaging	Het
Atg2a	G	A	19: 6,307,487 (GRCm39)	V1474M	probably benign	Het
Bcl2a1d	A	G	9: 88,613,552 (GRCm39)	V74A	probably damaging	Het
Bmper	A	G	9: 23,395,248 (GRCm39)	I660V	probably benign	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cds2	T	A	2: 132,105,365 (GRCm39)	M1K	probably null	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Ddx47	C	T	6: 134,995,018 (GRCm39)	T161I	probably benign	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Efcab3	T	A	11: 104,630,140 (GRCm39)	L957Q	probably null	Het
Eml1	A	T	12: 108,501,096 (GRCm39)		probably benign	Het
Espnl	A	T	1: 91,262,443 (GRCm39)	D296V	probably damaging	Het
Fam161a	T	G	11: 22,970,798 (GRCm39)	S109R	possibly damaging	Het
Fat3	T	G	9: 16,158,074 (GRCm39)	T1179P	possibly damaging	Het
Gfra1	A	T	19: 58,255,456 (GRCm39)	N330K	probably benign	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gm20775	A	T	Y: 10,641,648 (GRCm39)		noncoding transcript	Het
Gm5885	T	A	6: 133,508,152 (GRCm39)		noncoding transcript	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
H2-Q1	A	G	17: 35,539,919 (GRCm39)	N63D	possibly damaging	Het
Itgb2	A	T	10: 77,392,001 (GRCm39)	N358I	probably benign	Het
Jmjd1c	A	G	10: 67,080,588 (GRCm39)	T2247A	probably damaging	Het
Kcnma1	T	A	14: 23,361,720 (GRCm39)	K1036I	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrch1	G	T	14: 75,056,018 (GRCm39)	S278R	probably damaging	Het
Lrp2	C	A	2: 69,262,526 (GRCm39)		probably null	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Mpzl1	G	A	1: 165,433,376 (GRCm39)	Q36*	probably null	Het
Msantd5	A	G	11: 51,125,646 (GRCm39)	N190D	possibly damaging	Het
Npr2	T	C	4: 43,646,592 (GRCm39)	S647P	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Otogl	A	T	10: 107,705,396 (GRCm39)	C644S	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Paqr3	T	C	5: 97,247,455 (GRCm39)	T218A	probably benign	Het
Pcdh7	C	T	5: 57,879,361 (GRCm39)	S972L	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ralb	A	G	1: 119,411,282 (GRCm39)	M19T	probably benign	Het
Rcan1	A	G	16: 92,190,384 (GRCm39)	I185T	probably benign	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Rock1	T	A	18: 10,079,237 (GRCm39)	Q1077L	probably damaging	Het
Sesn3	C	T	9: 14,231,669 (GRCm39)	A200V	probably damaging	Het
Shh	T	C	5: 28,663,187 (GRCm39)	E327G	probably benign	Het
Shmt2	G	A	10: 127,354,686 (GRCm39)	A333V	probably damaging	Het
Slc15a2	T	A	16: 36,592,390 (GRCm39)	I256F	probably benign	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Taf10	A	G	7: 105,392,614 (GRCm39)		probably benign	Het
Tas2r139	T	A	6: 42,118,689 (GRCm39)	W274R	probably damaging	Het
Tbc1d20	T	A	2: 152,150,114 (GRCm39)		probably benign	Het
Tbc1d5	A	G	17: 51,089,429 (GRCm39)	S584P	probably damaging	Het
Tcstv1a	T	C	13: 120,355,407 (GRCm39)	D75G	probably damaging	Het
Tex10	T	G	4: 48,452,039 (GRCm39)	T696P	possibly damaging	Het
Tgfbr1	T	C	4: 47,402,863 (GRCm39)	F206S	probably damaging	Het
Tmem241	A	T	18: 12,246,496 (GRCm39)	H51Q	probably benign	Het
Trim5	A	T	7: 103,926,015 (GRCm39)	V182D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Ugp2	C	T	11: 21,279,026 (GRCm39)	V387I	probably damaging	Het
Unc45b	G	A	11: 82,804,035 (GRCm39)	D71N	probably damaging	Het
Usp34	A	T	11: 23,270,727 (GRCm39)	Y37F	possibly damaging	Het
Zfp943	A	T	17: 22,212,104 (GRCm39)	I397F	probably damaging	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Emilin2	APN	17	71,559,854 (GRCm39)	missense	possibly damaging	0.80
IGL01294:Emilin2	APN	17	71,581,589 (GRCm39)	missense	probably benign	0.07
IGL02085:Emilin2	APN	17	71,582,144 (GRCm39)	missense	probably damaging	0.99
IGL02433:Emilin2	APN	17	71,581,124 (GRCm39)	missense	probably benign
IGL02587:Emilin2	APN	17	71,587,851 (GRCm39)	splice site	probably benign
IGL02639:Emilin2	APN	17	71,581,544 (GRCm39)	missense	probably benign	0.00
IGL02798:Emilin2	APN	17	71,563,690 (GRCm39)	splice site	probably benign
IGL02952:Emilin2	APN	17	71,587,816 (GRCm39)	missense	probably damaging	0.99
IGL02954:Emilin2	APN	17	71,563,526 (GRCm39)	missense	probably benign	0.37
PIT4431001:Emilin2	UTSW	17	71,562,990 (GRCm39)	missense	probably benign	0.16
PIT4802001:Emilin2	UTSW	17	71,580,464 (GRCm39)	missense	probably damaging	1.00
R0011:Emilin2	UTSW	17	71,580,863 (GRCm39)	missense	probably benign	0.01
R0033:Emilin2	UTSW	17	71,582,009 (GRCm39)	missense	probably benign	0.27
R0784:Emilin2	UTSW	17	71,582,282 (GRCm39)	missense	possibly damaging	0.83
R0830:Emilin2	UTSW	17	71,580,815 (GRCm39)	missense	probably benign
R1301:Emilin2	UTSW	17	71,562,960 (GRCm39)	splice site	probably benign
R1394:Emilin2	UTSW	17	71,560,066 (GRCm39)	missense	possibly damaging	0.79
R1501:Emilin2	UTSW	17	71,617,756 (GRCm39)	missense	probably benign
R1576:Emilin2	UTSW	17	71,562,112 (GRCm39)	critical splice donor site	probably null
R1676:Emilin2	UTSW	17	71,581,085 (GRCm39)	missense	probably benign	0.14
R2063:Emilin2	UTSW	17	71,581,950 (GRCm39)	missense	probably benign
R2149:Emilin2	UTSW	17	71,580,987 (GRCm39)	missense	probably benign	0.06
R2238:Emilin2	UTSW	17	71,581,734 (GRCm39)	missense	possibly damaging	0.83
R2239:Emilin2	UTSW	17	71,617,219 (GRCm39)	missense	probably benign	0.00
R2380:Emilin2	UTSW	17	71,617,219 (GRCm39)	missense	probably benign	0.00
R2420:Emilin2	UTSW	17	71,581,274 (GRCm39)	missense	possibly damaging	0.90
R3721:Emilin2	UTSW	17	71,580,449 (GRCm39)	missense	probably benign	0.12
R4176:Emilin2	UTSW	17	71,581,258 (GRCm39)	missense	probably benign	0.00
R4348:Emilin2	UTSW	17	71,587,726 (GRCm39)	missense	probably benign
R4695:Emilin2	UTSW	17	71,559,773 (GRCm39)	missense	probably damaging	1.00
R4807:Emilin2	UTSW	17	71,580,443 (GRCm39)	missense	probably damaging	0.98
R4980:Emilin2	UTSW	17	71,560,066 (GRCm39)	missense	possibly damaging	0.79
R5028:Emilin2	UTSW	17	71,581,727 (GRCm39)	missense	possibly damaging	0.91
R5048:Emilin2	UTSW	17	71,580,962 (GRCm39)	missense	probably damaging	1.00
R5153:Emilin2	UTSW	17	71,580,497 (GRCm39)	missense	possibly damaging	0.83
R5519:Emilin2	UTSW	17	71,559,930 (GRCm39)	missense	probably benign	0.12
R5580:Emilin2	UTSW	17	71,582,225 (GRCm39)	missense	probably benign
R6088:Emilin2	UTSW	17	71,562,119 (GRCm39)	missense	probably benign
R6248:Emilin2	UTSW	17	71,581,112 (GRCm39)	missense	probably benign	0.04
R6429:Emilin2	UTSW	17	71,617,951 (GRCm39)	start gained	probably benign
R7085:Emilin2	UTSW	17	71,581,100 (GRCm39)	missense	probably damaging	1.00
R7260:Emilin2	UTSW	17	71,581,785 (GRCm39)	missense	probably benign	0.00
R7525:Emilin2	UTSW	17	71,581,974 (GRCm39)	missense	probably benign
R7671:Emilin2	UTSW	17	71,580,905 (GRCm39)	missense	probably benign	0.00
R7895:Emilin2	UTSW	17	71,580,908 (GRCm39)	missense	probably benign	0.03
R8257:Emilin2	UTSW	17	71,580,995 (GRCm39)	missense	probably benign
R8310:Emilin2	UTSW	17	71,562,141 (GRCm39)	missense	probably damaging	1.00
R8311:Emilin2	UTSW	17	71,562,141 (GRCm39)	missense	probably damaging	1.00
R8811:Emilin2	UTSW	17	71,582,282 (GRCm39)	missense	possibly damaging	0.83
R8973:Emilin2	UTSW	17	71,582,079 (GRCm39)	missense	probably benign	0.28
R9146:Emilin2	UTSW	17	71,581,331 (GRCm39)	missense	probably damaging	1.00
R9170:Emilin2	UTSW	17	71,587,689 (GRCm39)	missense	probably benign	0.05
R9200:Emilin2	UTSW	17	71,581,229 (GRCm39)	missense	possibly damaging	0.63
R9345:Emilin2	UTSW	17	71,581,539 (GRCm39)	missense	probably benign	0.01
R9432:Emilin2	UTSW	17	71,581,781 (GRCm39)	missense	probably benign	0.02
R9455:Emilin2	UTSW	17	71,581,485 (GRCm39)	missense	probably benign
R9625:Emilin2	UTSW	17	71,581,112 (GRCm39)	missense	probably benign	0.04
R9743:Emilin2	UTSW	17	71,580,867 (GRCm39)	missense	probably benign	0.01
X0064:Emilin2	UTSW	17	71,587,698 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAAGGAAATATGTGCGACCC -3'
(R):5'- GACTGGAGACTCTCTTAAAACTAGTGG -3'

Sequencing Primer
(F):5'- TTCAGATAACAATCCCTCTACATGAG -3'
(R):5'- TCTTAAAACTAGTGGTCACTAAAGTG -3'

Posted On

2015-07-07