Mutagenetix > Incidental Mutations

Incidental Mutation 'R7671:Emilin2'

592187

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71273910 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 607 (V607A)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: V607A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V607A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	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
R0011:Emilin2	UTSW	17	71273868	missense	probably benign	0.01
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
R7895:Emilin2	UTSW	17	71273913	missense	probably benign	0.03
R8257:Emilin2	UTSW	17	71274000	missense	probably benign
R8310:Emilin2	UTSW	17	71255146	missense	probably damaging	1.00
R8311:Emilin2	UTSW	17	71255146	missense	probably damaging	1.00
X0064:Emilin2	UTSW	17	71280703	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCTAGCTCAGCCAACATTTG -3'
(R):5'- AAGTGGTTGAGGACTTCTGCC -3'

Sequencing Primer
(F):5'- AACATTTGGTTCTGCAGCTTCTG -3'
(R):5'- TGAGGACTTCTGCCTGCAG -3'

Posted On

2019-11-12