Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Emilin2'

683284

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

MMRRC Submission

068807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71275084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 216 (K216Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

AlphaFold

Q8K482

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: K216Q

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: K216Q

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

0.0857

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	G	18: 57,592,067 (GRCm38)	L123V	possibly damaging	Het
1810022K09Rik	C	T	3: 14,607,245 (GRCm38)	V97I	probably benign	Het
2410089E03Rik	T	C	15: 8,203,793 (GRCm38)	W1201R	probably damaging	Het
4930404N11Rik	T	C	10: 81,364,015 (GRCm38)	D129G	unknown	Het
Adamts16	A	T	13: 70,738,840 (GRCm38)	I975N	probably benign	Het
Adcy8	A	G	15: 64,699,135 (GRCm38)	*1250Q	probably null	Het
Anapc1	A	T	2: 128,664,032 (GRCm38)	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,539,358 (GRCm38)		probably benign	Het
Ankub1	A	T	3: 57,665,511 (GRCm38)	S263R	possibly damaging	Het
Aoah	A	G	13: 20,840,155 (GRCm38)	I94V	probably benign	Het
Aox2	A	G	1: 58,289,954 (GRCm38)	D186G	probably benign	Het
Arap2	A	T	5: 62,698,325 (GRCm38)	C589*	probably null	Het
Armt1	T	C	10: 4,439,550 (GRCm38)	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,292,772 (GRCm38)	Y185F	probably benign	Het
BC067074	A	G	13: 113,319,759 (GRCm38)	T780A		Het
Cacna2d4	A	G	6: 119,241,181 (GRCm38)	D159G	probably damaging	Het
Camta2	C	A	11: 70,670,358 (GRCm38)	R1184L	probably benign	Het
Ccr7	G	A	11: 99,145,823 (GRCm38)	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,045 (GRCm38)	T323A	possibly damaging	Het
Cep250	C	T	2: 155,970,122 (GRCm38)	A446V	unknown	Het
Clec2e	C	A	6: 129,093,411 (GRCm38)	G216*	probably null	Het
Col25a1	T	C	3: 130,475,626 (GRCm38)	S176P	unknown	Het
Col4a3	A	C	1: 82,715,331 (GRCm38)	I1446L	probably benign	Het
Cse1l	A	G	2: 166,943,080 (GRCm38)	E823G	probably damaging	Het
Dchs2	A	G	3: 83,354,456 (GRCm38)	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,339,542 (GRCm38)	E77G	probably damaging	Het
Dnah6	T	C	6: 73,144,751 (GRCm38)	D1416G	probably benign	Het
Dpyd	T	C	3: 119,314,933 (GRCm38)		probably null	Het
Dst	A	G	1: 34,228,855 (GRCm38)	D3112G	probably damaging	Het
Dusp13	A	C	14: 21,734,906 (GRCm38)	N128K	probably benign	Het
Enam	T	C	5: 88,494,088 (GRCm38)	W254R	possibly damaging	Het
Esrrg	A	C	1: 188,198,750 (GRCm38)	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,153,856 (GRCm38)	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,650,064 (GRCm38)	L373P		Het
Gm21060	C	A	19: 61,296,928 (GRCm38)	V48L	possibly damaging	Het
Gm30302	A	T	13: 49,788,239 (GRCm38)	D80E	probably benign	Het
Gtpbp3	T	C	8: 71,491,162 (GRCm38)	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,148,725 (GRCm38)	D171G	probably damaging	Het
Hrg	A	T	16: 22,959,218 (GRCm38)	T242S	probably benign	Het
Inf2	G	T	12: 112,607,515 (GRCm38)	C751F	unknown	Het
Krt13	A	T	11: 100,119,438 (GRCm38)	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,253,294 (GRCm38)	S7P	probably benign	Het
Matn2	A	G	15: 34,433,050 (GRCm38)	I867V	probably benign	Het
Mdh2	C	T	5: 135,790,165 (GRCm38)	A325V	possibly damaging	Het
Mki67	C	A	7: 135,695,635 (GRCm38)	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,772,943 (GRCm38)	R64*	probably null	Het
Nav1	T	C	1: 135,584,725 (GRCm38)	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585 (GRCm38)	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321 (GRCm38)		probably null	Het
Olfr141	C	A	2: 86,806,856 (GRCm38)	V48F	probably benign	Het
Olfr298	A	G	7: 86,489,279 (GRCm38)	S91P	probably damaging	Het
Olfr834	C	A	9: 18,988,678 (GRCm38)	S230*	probably null	Het
Olfr884	T	A	9: 38,047,543 (GRCm38)	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,927,642 (GRCm38)	S617R	probably benign	Het
Pde10a	C	A	17: 8,924,239 (GRCm38)	Q6K	probably benign	Het
Pigq	A	C	17: 25,932,167 (GRCm38)	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,586,437 (GRCm38)	D3865E	probably damaging	Het
Prag1	C	T	8: 36,099,590 (GRCm38)		probably benign	Het
Rint1	A	G	5: 23,811,730 (GRCm38)	T498A	probably benign	Het
Rnf213	T	A	11: 119,461,930 (GRCm38)	F3921I		Het
Rpp14	A	G	14: 8,088,768 (GRCm38)	S95G	probably benign	Het
Ryk	T	G	9: 102,861,921 (GRCm38)	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,974,571 (GRCm38)	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,969,576 (GRCm38)	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,806,694 (GRCm38)	I609K	probably damaging	Het
Slc44a4	T	C	17: 34,921,562 (GRCm38)	F244L	probably damaging	Het
Susd5	T	C	9: 114,082,504 (GRCm38)	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,959,395 (GRCm38)		probably null	Het
Tbcd	G	C	11: 121,496,853 (GRCm38)		probably benign	Het
Tmc1	A	T	19: 20,900,851 (GRCm38)	N93K	probably benign	Het
Tmem100	T	A	11: 90,035,476 (GRCm38)	M43K	probably benign	Het
Tmem131l	A	T	3: 83,928,732 (GRCm38)	V690D	probably damaging	Het
Trim8	A	G	19: 46,515,464 (GRCm38)	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,928,495 (GRCm38)	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,802,942 (GRCm38)	N443K	possibly damaging	Het
Zan	T	A	5: 137,389,316 (GRCm38)	I4878F	unknown	Het
Zfand4	A	G	6: 116,314,080 (GRCm38)	D344G	probably benign	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Emilin2	APN	17	71,252,859 (GRCm38)	missense	possibly damaging	0.80
IGL01294:Emilin2	APN	17	71,274,594 (GRCm38)	missense	probably benign	0.07
IGL02085:Emilin2	APN	17	71,275,149 (GRCm38)	missense	probably damaging	0.99
IGL02433:Emilin2	APN	17	71,274,129 (GRCm38)	missense	probably benign
IGL02587:Emilin2	APN	17	71,280,856 (GRCm38)	splice site	probably benign
IGL02639:Emilin2	APN	17	71,274,549 (GRCm38)	missense	probably benign	0.00
IGL02798:Emilin2	APN	17	71,256,695 (GRCm38)	splice site	probably benign
IGL02952:Emilin2	APN	17	71,280,821 (GRCm38)	missense	probably damaging	0.99
IGL02954:Emilin2	APN	17	71,256,531 (GRCm38)	missense	probably benign	0.37
PIT4431001:Emilin2	UTSW	17	71,255,995 (GRCm38)	missense	probably benign	0.16
PIT4802001:Emilin2	UTSW	17	71,273,469 (GRCm38)	missense	probably damaging	1.00
R0011:Emilin2	UTSW	17	71,273,868 (GRCm38)	missense	probably benign	0.01
R0033:Emilin2	UTSW	17	71,275,014 (GRCm38)	missense	probably benign	0.27
R0784:Emilin2	UTSW	17	71,275,287 (GRCm38)	missense	possibly damaging	0.83
R0830:Emilin2	UTSW	17	71,273,820 (GRCm38)	missense	probably benign
R1301:Emilin2	UTSW	17	71,255,965 (GRCm38)	splice site	probably benign
R1394:Emilin2	UTSW	17	71,253,071 (GRCm38)	missense	possibly damaging	0.79
R1501:Emilin2	UTSW	17	71,310,761 (GRCm38)	missense	probably benign
R1576:Emilin2	UTSW	17	71,255,117 (GRCm38)	critical splice donor site	probably null
R1676:Emilin2	UTSW	17	71,274,090 (GRCm38)	missense	probably benign	0.14
R2063:Emilin2	UTSW	17	71,274,955 (GRCm38)	missense	probably benign
R2149:Emilin2	UTSW	17	71,273,992 (GRCm38)	missense	probably benign	0.06
R2238:Emilin2	UTSW	17	71,274,739 (GRCm38)	missense	possibly damaging	0.83
R2239:Emilin2	UTSW	17	71,310,224 (GRCm38)	missense	probably benign	0.00
R2380:Emilin2	UTSW	17	71,310,224 (GRCm38)	missense	probably benign	0.00
R2420:Emilin2	UTSW	17	71,274,279 (GRCm38)	missense	possibly damaging	0.90
R3721:Emilin2	UTSW	17	71,273,454 (GRCm38)	missense	probably benign	0.12
R4176:Emilin2	UTSW	17	71,274,263 (GRCm38)	missense	probably benign	0.00
R4348:Emilin2	UTSW	17	71,280,731 (GRCm38)	missense	probably benign
R4352:Emilin2	UTSW	17	71,280,731 (GRCm38)	missense	probably benign
R4695:Emilin2	UTSW	17	71,252,778 (GRCm38)	missense	probably damaging	1.00
R4807:Emilin2	UTSW	17	71,273,448 (GRCm38)	missense	probably damaging	0.98
R4980:Emilin2	UTSW	17	71,253,071 (GRCm38)	missense	possibly damaging	0.79
R5028:Emilin2	UTSW	17	71,274,732 (GRCm38)	missense	possibly damaging	0.91
R5048:Emilin2	UTSW	17	71,273,967 (GRCm38)	missense	probably damaging	1.00
R5153:Emilin2	UTSW	17	71,273,502 (GRCm38)	missense	possibly damaging	0.83
R5519:Emilin2	UTSW	17	71,252,935 (GRCm38)	missense	probably benign	0.12
R5580:Emilin2	UTSW	17	71,275,230 (GRCm38)	missense	probably benign
R6088:Emilin2	UTSW	17	71,255,124 (GRCm38)	missense	probably benign
R6248:Emilin2	UTSW	17	71,274,117 (GRCm38)	missense	probably benign	0.04
R6429:Emilin2	UTSW	17	71,310,956 (GRCm38)	start gained	probably benign
R7085:Emilin2	UTSW	17	71,274,105 (GRCm38)	missense	probably damaging	1.00
R7260:Emilin2	UTSW	17	71,274,790 (GRCm38)	missense	probably benign	0.00
R7525:Emilin2	UTSW	17	71,274,979 (GRCm38)	missense	probably benign
R7671:Emilin2	UTSW	17	71,273,910 (GRCm38)	missense	probably benign	0.00
R7895:Emilin2	UTSW	17	71,273,913 (GRCm38)	missense	probably benign	0.03
R8257:Emilin2	UTSW	17	71,274,000 (GRCm38)	missense	probably benign
R8310:Emilin2	UTSW	17	71,255,146 (GRCm38)	missense	probably damaging	1.00
R8311:Emilin2	UTSW	17	71,255,146 (GRCm38)	missense	probably damaging	1.00
R8811:Emilin2	UTSW	17	71,275,287 (GRCm38)	missense	possibly damaging	0.83
R9146:Emilin2	UTSW	17	71,274,336 (GRCm38)	missense	probably damaging	1.00
R9170:Emilin2	UTSW	17	71,280,694 (GRCm38)	missense	probably benign	0.05
R9200:Emilin2	UTSW	17	71,274,234 (GRCm38)	missense	possibly damaging	0.63
R9345:Emilin2	UTSW	17	71,274,544 (GRCm38)	missense	probably benign	0.01
R9432:Emilin2	UTSW	17	71,274,786 (GRCm38)	missense	probably benign	0.02
R9455:Emilin2	UTSW	17	71,274,490 (GRCm38)	missense	probably benign
R9625:Emilin2	UTSW	17	71,274,117 (GRCm38)	missense	probably benign	0.04
R9743:Emilin2	UTSW	17	71,273,872 (GRCm38)	missense	probably benign	0.01
X0064:Emilin2	UTSW	17	71,280,703 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTGACCTCAGCCAACTCAG -3'
(R):5'- GGAACTTGTCATCCATGTCCAAC -3'

Sequencing Primer
(F):5'- TCAGCCAACTCAGACTTGATGTC -3'
(R):5'- TTCTCAGCCTAAGAAAACGTTGTCC -3'

Posted On

2021-10-11