Mutagenetix > Incidental Mutations

Incidental Mutation 'R0011:Emilin2'

63229

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

MMRRC Submission

038306-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0011 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71273868 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 621 (G621E)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: G621E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: G621E

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,229,993	L389Q	probably damaging	Het
A930011G23Rik	T	C	5: 99,232,354	Y344C	probably damaging	Het
Alox15	A	G	11: 70,349,596	V253A	possibly damaging	Het
Ank3	A	G	10: 69,979,451		probably benign	Het
Art3	T	A	5: 92,403,612	Y17N	probably damaging	Het
Asic3	C	T	5: 24,417,492		probably benign	Het
Bach2	G	T	4: 32,244,655		probably benign	Het
Brip1	C	A	11: 86,186,998	K201N	possibly damaging	Het
Casc1	T	A	6: 145,179,055	M515L	probably damaging	Het
Ccdc88a	T	C	11: 29,374,364	F6S	probably damaging	Het
Celsr2	A	G	3: 108,413,402	I698T	probably benign	Het
Cenpf	A	G	1: 189,650,706	S2664P	probably benign	Het
Cfap54	A	T	10: 93,065,225	C156S	probably damaging	Het
Cops4	C	A	5: 100,527,981	Q28K	probably benign	Het
Cyb5a	T	A	18: 84,877,822		probably benign	Het
Diaph3	A	T	14: 86,866,408	C847S	probably damaging	Het
Dnah3	T	C	7: 120,019,701	K1648R	probably damaging	Het
Enpp1	T	A	10: 24,670,002	K228*	probably null	Het
Epg5	T	C	18: 77,948,483	C132R	probably benign	Het
Epha7	G	A	4: 28,962,564	D961N	probably benign	Het
G6pc2	C	A	2: 69,226,565		probably benign	Het
Gm7361	C	T	5: 26,258,878		probably benign	Het
Grin2c	T	C	11: 115,255,750	Y476C	probably damaging	Het
Hnrnpul1	T	G	7: 25,742,915		probably benign	Het
Igf2bp1	T	C	11: 96,005,584	D17G	probably damaging	Het
Insrr	T	C	3: 87,809,616	C688R	possibly damaging	Het
Itgb2l	T	C	16: 96,427,661		probably benign	Het
Kidins220	T	A	12: 24,999,352	V322E	probably damaging	Het
Klk1	C	T	7: 44,229,535	T149I	probably benign	Het
Mbd3l1	A	G	9: 18,484,567		probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,261,337		probably null	Het
Mtr	T	C	13: 12,238,052		probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Npy4r	C	T	14: 34,146,723	V203M	probably damaging	Het
Olfr965	T	A	9: 39,719,627	N133K	probably benign	Het
Pik3r4	C	A	9: 105,644,637	T134K	probably benign	Het
Rdh19	T	A	10: 127,856,911	L149Q	probably damaging	Het
Sema3e	C	T	5: 14,144,011	R85*	probably null	Het
Shtn1	A	G	19: 59,032,218	S191P	possibly damaging	Het
Slc39a11	A	T	11: 113,247,833	F279L	probably benign	Het
Slc4a1	T	C	11: 102,357,110	K353E	possibly damaging	Het
Slc6a18	A	T	13: 73,665,619	M515K	possibly damaging	Het
Snapc4	A	G	2: 26,364,813	I1225T	probably benign	Het
Spidr	A	T	16: 15,966,603	W534R	probably benign	Het
Tmem202	T	A	9: 59,524,801	N81I	probably benign	Het
Tnfrsf1b	T	G	4: 145,222,966	R297S	possibly damaging	Het
Trim55	A	G	3: 19,670,999	T227A	probably benign	Het
Trim58	A	T	11: 58,643,120	T167S	probably benign	Het
Trp53i11	A	T	2: 93,199,353		probably benign	Het
Ttn	T	C	2: 76,810,355	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,840,793	T301I	probably damaging	Het
Wdr17	A	T	8: 54,672,501	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,788,828	V509A	probably damaging	Het
Zfp251	A	G	15: 76,854,554	V108A	probably benign	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Emilin2	APN	17	71252859	missense	possibly damaging	0.80
IGL01294:Emilin2	APN	17	71274594	missense	probably benign	0.07
IGL02085:Emilin2	APN	17	71275149	missense	probably damaging	0.99
IGL02433:Emilin2	APN	17	71274129	missense	probably benign
IGL02587:Emilin2	APN	17	71280856	splice site	probably benign
IGL02639:Emilin2	APN	17	71274549	missense	probably benign	0.00
IGL02798:Emilin2	APN	17	71256695	splice site	probably benign
IGL02952:Emilin2	APN	17	71280821	missense	probably damaging	0.99
IGL02954:Emilin2	APN	17	71256531	missense	probably benign	0.37
PIT4431001:Emilin2	UTSW	17	71255995	missense	probably benign	0.16
PIT4802001:Emilin2	UTSW	17	71273469	missense	probably damaging	1.00
R0033:Emilin2	UTSW	17	71275014	missense	probably benign	0.27
R0784:Emilin2	UTSW	17	71275287	missense	possibly damaging	0.83
R0830:Emilin2	UTSW	17	71273820	missense	probably benign
R1301:Emilin2	UTSW	17	71255965	splice site	probably benign
R1394:Emilin2	UTSW	17	71253071	missense	possibly damaging	0.79
R1501:Emilin2	UTSW	17	71310761	missense	probably benign
R1576:Emilin2	UTSW	17	71255117	critical splice donor site	probably null
R1676:Emilin2	UTSW	17	71274090	missense	probably benign	0.14
R2063:Emilin2	UTSW	17	71274955	missense	probably benign
R2149:Emilin2	UTSW	17	71273992	missense	probably benign	0.06
R2238:Emilin2	UTSW	17	71274739	missense	possibly damaging	0.83
R2239:Emilin2	UTSW	17	71310224	missense	probably benign	0.00
R2380:Emilin2	UTSW	17	71310224	missense	probably benign	0.00
R2420:Emilin2	UTSW	17	71274279	missense	possibly damaging	0.90
R3721:Emilin2	UTSW	17	71273454	missense	probably benign	0.12
R4176:Emilin2	UTSW	17	71274263	missense	probably benign	0.00
R4348:Emilin2	UTSW	17	71280731	missense	probably benign
R4352:Emilin2	UTSW	17	71280731	missense	probably benign
R4695:Emilin2	UTSW	17	71252778	missense	probably damaging	1.00
R4807:Emilin2	UTSW	17	71273448	missense	probably damaging	0.98
R4980:Emilin2	UTSW	17	71253071	missense	possibly damaging	0.79
R5028:Emilin2	UTSW	17	71274732	missense	possibly damaging	0.91
R5048:Emilin2	UTSW	17	71273967	missense	probably damaging	1.00
R5153:Emilin2	UTSW	17	71273502	missense	possibly damaging	0.83
R5519:Emilin2	UTSW	17	71252935	missense	probably benign	0.12
R5580:Emilin2	UTSW	17	71275230	missense	probably benign
R6088:Emilin2	UTSW	17	71255124	missense	probably benign
R6248:Emilin2	UTSW	17	71274117	missense	probably benign	0.04
R6429:Emilin2	UTSW	17	71310956	start gained	probably benign
R7085:Emilin2	UTSW	17	71274105	missense	probably damaging	1.00
R7260:Emilin2	UTSW	17	71274790	missense	probably benign	0.00
R7525:Emilin2	UTSW	17	71274979	missense	probably benign
R7671:Emilin2	UTSW	17	71273910	missense	probably benign	0.00
R7895:Emilin2	UTSW	17	71273913	missense	probably benign	0.03
R7978:Emilin2	UTSW	17	71273913	missense	probably benign	0.03
X0064:Emilin2	UTSW	17	71280703	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTCAGCCAACATTTGGTTCTGC -3'
(R):5'- TTGAGCCGCCTGAAGGACAAAG -3'

Sequencing Primer
(F):5'- AGCTGACCACAGCATGGA -3'
(R):5'- TTGCCCCACGGGATAGATG -3'

Posted On

2013-07-30