Mutagenetix > Incidental Mutations

Incidental Mutation 'R8311:Emilin2'

641407

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 71255146 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 954 (D954H)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024849
AA Change: D954H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: D954H

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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
1700007B14Rik	T	A	8: 75,753,490		probably benign	Het
1700022I11Rik	T	C	4: 42,973,169	V834A	probably benign	Het
2700049A03Rik	A	G	12: 71,138,041		probably benign	Het
4930407I10Rik	T	C	15: 82,063,239	W446R	possibly damaging	Het
Aldh1l2	T	A	10: 83,490,615	E912D	probably damaging	Het
Apol9a	T	C	15: 77,405,020	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,276,345	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,535,616	N100S	possibly damaging	Het
Copb2	G	T	9: 98,568,019	K10N	possibly damaging	Het
Cyp4a14	A	G	4: 115,491,078	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,697,940	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,446,933	S410T	probably benign	Het
Dnah9	T	C	11: 65,989,818	N2651S	probably benign	Het
Efhb	A	G	17: 53,413,461		probably null	Het
Eif4ebp1	T	A	8: 27,275,096	F113L	probably damaging	Het
Eng	A	G	2: 32,678,993	T511A	probably benign	Het
Eps8l1	A	G	7: 4,471,818	D266G	probably damaging	Het
Fam120a	T	C	13: 48,933,957	H309R	possibly damaging	Het
Gga3	A	T	11: 115,587,008	S585T	probably benign	Het
Gm12117	T	C	11: 33,276,126	Q70R	probably damaging	Het
Gm15922	T	C	7: 3,736,483	D462G	probably benign	Het
Gpr158	A	G	2: 21,368,890	H212R	probably benign	Het
Hmgb1	A	G	5: 149,050,617	F41L	possibly damaging	Het
Itgav	T	A	2: 83,765,777	I214N	probably damaging	Het
Kcna1	T	A	6: 126,642,292	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,503,421	V393I	probably benign	Het
Mak16	T	C	8: 31,168,669	D4G	probably damaging	Het
Metap2	C	T	10: 93,861,522	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,446,545	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,781,563	Q561L	probably damaging	Het
Olfr1328	A	C	4: 118,934,150	S231A	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,671	T137A	possibly damaging	Het
Polr2a	T	C	11: 69,737,456	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,866,382	S354P	probably benign	Het
Ptchd3	A	G	11: 121,836,473	H391R	possibly damaging	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329		probably null	Het
Rp1	T	A	1: 4,348,349	I847L	probably benign	Het
Rtn1	T	C	12: 72,304,064	E457G	probably damaging	Het
Serpind1	G	A	16: 17,342,866	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,616,223	V253A	probably damaging	Het
Snapc4	A	T	2: 26,378,534	F38L	probably benign	Het
Srcap	T	C	7: 127,557,797	F2321S	probably damaging	Het
Stat4	A	T	1: 52,102,916	I641F	probably damaging	Het
Tmem216	A	T	19: 10,551,827	F65Y	probably benign	Het
Tmem37	C	T	1: 120,068,252	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,235,553	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,633,263	S752N	probably benign	Het
Vmn1r26	T	C	6: 58,008,533	K224E	probably benign	Het
Vps13b	T	A	15: 35,886,954	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,591,222	R21W	probably damaging	Het
Wdr37	T	C	13: 8,853,573	R165G	unknown	Het
Yars2	T	C	16: 16,307,283	F388L	probably benign	Het
Ykt6	T	A	11: 5,962,366	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,126,995	S18R	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
R7671:Emilin2	UTSW	17	71273910	missense	probably benign	0.00
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
X0064:Emilin2	UTSW	17	71280703	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCGGCAGTTCCAAAAGTATAG -3'
(R):5'- CCTTTGAGGCTTTCGTATGCAG -3'

Sequencing Primer
(F):5'- ATAGTGAGGCCATGTGCTGCC -3'
(R):5'- GTACTAGCCCTTGGTCTGC -3'

Posted On

2020-07-28