Mutagenetix > Incidental Mutation

Incidental Mutation 'R7260:Emilin2'

564579

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

basilin, FOAP-10

MMRRC Submission

045352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71559167-71618551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71581785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 314 (T314A)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

AlphaFold

Q8K482

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: T314A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: T314A

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,849,882 (GRCm39)	S293P	probably benign	Het
Actn2	T	C	13: 12,291,376 (GRCm39)	N676S	probably benign	Het
Amfr	C	T	8: 94,702,776 (GRCm39)	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,411,834 (GRCm39)	A325D	probably damaging	Het
Apba2	A	G	7: 64,389,493 (GRCm39)	D463G	probably damaging	Het
Arid5b	A	G	10: 67,933,637 (GRCm39)	V755A	probably damaging	Het
Boc	A	T	16: 44,310,533 (GRCm39)	F796I		Het
Ccnt1	G	A	15: 98,463,005 (GRCm39)	Q56*	probably null	Het
Cd248	T	A	19: 5,119,383 (GRCm39)	Y410*	probably null	Het
Chd9	T	A	8: 91,721,171 (GRCm39)	N986K	unknown	Het
Col6a6	T	C	9: 105,661,168 (GRCm39)	T314A	probably benign	Het
Cpped1	A	G	16: 11,646,327 (GRCm39)	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,050,574 (GRCm39)	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,831,344 (GRCm39)	V490L	probably benign	Het
Cyrib	A	T	15: 63,829,438 (GRCm39)	F23L	possibly damaging	Het
Dcst2	T	C	3: 89,273,593 (GRCm39)	F157S	probably damaging	Het
Ddx54	G	T	5: 120,764,985 (GRCm39)	R788L	probably benign	Het
Dnah1	T	C	14: 30,991,343 (GRCm39)	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,534,309 (GRCm39)	R2320W	probably damaging	Het
Dnai3	T	A	3: 145,752,295 (GRCm39)	M794L	probably benign	Het
Eml2	A	G	7: 18,934,515 (GRCm39)	S405G	probably benign	Het
Ephb2	A	G	4: 136,498,885 (GRCm39)	F65L	probably damaging	Het
Fbn2	T	C	18: 58,199,188 (GRCm39)	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,125,754 (GRCm39)	T206A	probably benign	Het
Filip1l	A	G	16: 57,391,287 (GRCm39)	E625G	probably damaging	Het
Gen1	A	C	12: 11,306,849 (GRCm39)	M172R	probably damaging	Het
Gk5	A	G	9: 96,001,663 (GRCm39)	K54E	probably benign	Het
Glis3	T	C	19: 28,508,802 (GRCm39)	E394G	probably benign	Het
Helq	T	A	5: 100,939,793 (GRCm39)	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,766,372 (GRCm39)	F83L	probably benign	Het
Ints15	A	G	5: 143,297,594 (GRCm39)	V151A	probably benign	Het
Iqcn	T	C	8: 71,161,397 (GRCm39)	Y197H	probably benign	Het
Kdm4d	T	C	9: 14,374,454 (GRCm39)	D468G	probably benign	Het
Kif20b	A	G	19: 34,927,610 (GRCm39)	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,468,535 (GRCm39)	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,420,338 (GRCm39)	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,373,139 (GRCm39)	M261L	probably benign	Het
Mical2	A	T	7: 111,919,001 (GRCm39)	Q430L	probably benign	Het
Mroh4	A	T	15: 74,479,978 (GRCm39)	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,299,710 (GRCm39)	Y231H	probably damaging	Het
Msh2	G	T	17: 88,025,047 (GRCm39)	V642F	probably damaging	Het
Muc5b	G	T	7: 141,396,385 (GRCm39)	A166S	unknown	Het
Myo18b	T	C	5: 112,923,154 (GRCm39)	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,835,578 (GRCm39)	S975P	probably benign	Het
Oacyl	T	C	18: 65,831,438 (GRCm39)	L25P	probably damaging	Het
Or12e10	A	G	2: 87,640,731 (GRCm39)	N189S	probably damaging	Het
Or5b109	T	C	19: 13,212,388 (GRCm39)	F258S	probably damaging	Het
Or5w15	T	C	2: 87,568,852 (GRCm39)		probably null	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8a1	T	A	9: 37,642,049 (GRCm39)	I77F	probably damaging	Het
Patj	A	G	4: 98,304,970 (GRCm39)	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,117,673 (GRCm39)	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,604,759 (GRCm39)	Y55N	probably benign	Het
Pias4	A	G	10: 80,993,302 (GRCm39)	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,216,455 (GRCm39)	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,362,556 (GRCm39)	V383M	probably benign	Het
Rars1	C	A	11: 35,725,281 (GRCm39)	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,106,610 (GRCm39)	K454*	probably null	Het
Rmnd1	A	T	10: 4,364,803 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rngtt	T	C	4: 33,356,176 (GRCm39)	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,025,681 (GRCm39)	E189G	unknown	Het
Slc30a3	G	A	5: 31,245,690 (GRCm39)	T281I	probably damaging	Het
Smok3c	T	A	5: 138,063,885 (GRCm39)	D457E	possibly damaging	Het
Stard9	C	A	2: 120,537,419 (GRCm39)	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,991,853 (GRCm39)	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,735,590 (GRCm39)	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,813 (GRCm39)	E1502G	probably benign	Het
Tpp1	A	T	7: 105,396,704 (GRCm39)	S438T	probably benign	Het
Tubb2a	T	A	13: 34,259,397 (GRCm39)	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,471,114 (GRCm39)	S26P	probably benign	Het
Unc13a	G	T	8: 72,113,229 (GRCm39)	S207R	possibly damaging	Het
Usp35	T	G	7: 96,969,286 (GRCm39)	D362A	probably damaging	Het
Utp20	A	G	10: 88,587,334 (GRCm39)	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,694,359 (GRCm39)	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,387,138 (GRCm39)	A159V	probably damaging	Het
Wiz	T	C	17: 32,578,085 (GRCm39)	K467E	probably damaging	Het
Zfp534	T	C	4: 147,759,461 (GRCm39)	T403A	probably benign	Het
Zswim5	T	C	4: 116,819,843 (GRCm39)	L416P	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
R4352: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
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'- CTTGGTTGGGCTACAGGATC -3'
(R):5'- CCAGCAGCAAGGAATCTGGTATG -3'

Sequencing Primer
(F):5'- GATCAGCTCTATCACTCCGAGGTAG -3'
(R):5'- TCTGGTATGAAGGACATCAAGTCTG -3'

Posted On

2019-06-26