Mutagenetix > Incidental Mutation

Incidental Mutation 'R5914:Emilin3'

461173

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

Emilin5, EMILIN-T

MMRRC Submission

044111-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160906437-160912328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160909070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 253 (N253I)

Ref Sequence

ENSEMBL: ENSMUSP00000059732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456] [ENSMUST00000109457]

AlphaFold

P59900

Predicted Effect

probably benign
Transcript: ENSMUST00000040872

SMART Domains

Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	5.8e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	559	569	N/A	INTRINSIC
LNS2	637	793	1.4e-105	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000057169
AA Change: N253I

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

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: N253I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EMI	55	125	7.3e-18	PFAM
low complexity region	144	161	N/A	INTRINSIC
low complexity region	281	295	N/A	INTRINSIC
low complexity region	359	381	N/A	INTRINSIC
low complexity region	451	460	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109454
AA Change: N206I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: N206I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EMI	54	127	6.4e-22	PFAM
low complexity region	144	161	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
low complexity region	312	334	N/A	INTRINSIC
low complexity region	404	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109455

SMART Domains

Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	2.4e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	528	538	N/A	INTRINSIC
LNS2	606	762	1.4e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109456

SMART Domains

Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	5.8e-52	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	559	569	N/A	INTRINSIC
LNS2	637	793	1.4e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109457

SMART Domains

Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	110	4.1e-48	PFAM
low complexity region	136	148	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
Pfam:Lipin_mid	435	538	9.5e-35	PFAM
low complexity region	569	579	N/A	INTRINSIC
LNS2	647	803	1.4e-105	SMART

Meta Mutation Damage Score

0.1391

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,538,370	R286H	possibly damaging	Het
Ank3	A	T	10: 69,992,944		probably benign	Het
Arhgap24	G	A	5: 102,552,159		probably null	Het
Arhgef2	T	C	3: 88,635,869	Y396H	probably benign	Het
Asap3	G	T	4: 136,241,409	G722C	probably benign	Het
Birc3	A	C	9: 7,857,342	*377E	probably null	Het
Cdc123	G	T	2: 5,798,363	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,547,691		probably null	Het
Cep97	T	C	16: 55,905,457	N689S	probably benign	Het
Cfap97	T	G	8: 46,181,858	S407A	probably damaging	Het
Cfh	A	T	1: 140,136,229	N436K	probably benign	Het
Chpf2	A	T	5: 24,592,423		probably benign	Het
Cnnm2	A	G	19: 46,763,177	T469A	probably benign	Het
Col6a3	T	A	1: 90,776,200	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,978,933	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,351,155	C602S	probably benign	Het
Dda1	T	A	8: 71,474,650		probably benign	Het
Dixdc1	T	C	9: 50,698,588		probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Epg5	T	A	18: 77,959,632		probably null	Het
Fam204a	A	T	19: 60,221,093	Y68*	probably null	Het
Fbln5	T	G	12: 101,760,743	D329A	possibly damaging	Het
Fkbp15	T	A	4: 62,327,810		probably null	Het
Fnbp4	C	G	2: 90,774,793		probably benign	Het
Foxn2	C	A	17: 88,462,710		probably null	Het
Frem1	T	C	4: 83,001,775	D448G	probably damaging	Het
Fzd9	T	C	5: 135,249,345	Y562C	probably benign	Het
Gcn1l1	A	G	5: 115,610,135		silent	Het
Gm6003	A	G	7: 33,165,266		noncoding transcript	Het
Gnl3	C	A	14: 31,016,896	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hk2	C	T	6: 82,736,634	R461K	probably benign	Het
Ice1	A	G	13: 70,606,377	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,905	S129T	probably benign	Het
Ino80	G	A	2: 119,458,216	S3L	probably damaging	Het
Ints2	T	A	11: 86,222,174	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,611,831	M247T	probably benign	Het
Kpna6	T	C	4: 129,672,692		probably benign	Het
Krtap28-13	T	A	1: 83,061,323		probably benign	Het
Lgr4	T	A	2: 109,918,272	V51E	possibly damaging	Het
Map3k5	A	C	10: 20,104,255	E836D	probably benign	Het
Mapk11	T	C	15: 89,145,835	I193V	probably benign	Het
March10	A	T	11: 105,385,482	V660E	probably damaging	Het
Matn4	T	C	2: 164,393,224	E435G	probably damaging	Het
Mre11a	G	T	9: 14,811,936	R402M	probably damaging	Het
Msr1	C	T	8: 39,581,827	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,531,232	R99*	probably null	Het
Nkx6-1	C	T	5: 101,663,981	S85N	unknown	Het
Nop2	A	T	6: 125,134,728	E141D	probably benign	Het
Olfr1469	A	G	19: 13,410,962	H131R	probably benign	Het
Olfr906	G	C	9: 38,488,361	E111Q	probably damaging	Het
Paox	T	C	7: 140,129,188	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,630,936	V995A	probably benign	Het
Pdcd1	T	A	1: 94,040,825	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,700,095	V372L	probably damaging	Het
Phldb1	G	A	9: 44,711,651	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,622,479	V198L	probably benign	Het
Pnpla8	T	A	12: 44,295,970	L41*	probably null	Het
Postn	C	T	3: 54,373,800	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,989	S642N	probably benign	Het
Ptpn23	G	A	9: 110,385,443		probably benign	Het
Ptprj	T	C	2: 90,453,340	N923S	possibly damaging	Het
Rai1	T	C	11: 60,187,804	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,080,554	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,451,850	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,234,790	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,629,540	L749F	possibly damaging	Het
Spon1	G	A	7: 114,030,821	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,898,560	E2K	probably benign	Het
Thoc5	A	G	11: 4,920,416	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,075,563	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,672,009	D221V	probably benign	Het
Trim30b	A	T	7: 104,357,365	S95T	probably damaging	Het
Trip12	T	C	1: 84,763,458	E571G	probably damaging	Het
Ttn	T	C	2: 76,951,312		probably null	Het
Ubp1	A	T	9: 113,956,739	R161W	probably benign	Het
Usp21	G	A	1: 171,282,171		probably benign	Het
Vmn1r61	T	A	7: 5,610,530	R262W	probably damaging	Het
Vmn2r67	A	T	7: 85,151,836	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,741,742	L784S	probably benign	Het
Vwc2	G	A	11: 11,154,244	V259M	probably damaging	Het
Zeb2	T	C	2: 44,997,052	I596M	probably benign	Het
Zgrf1	T	A	3: 127,561,023	L97H	probably damaging	Het

Other mutations in Emilin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Emilin3	APN	2	160909783	missense	probably damaging	1.00
IGL02231:Emilin3	APN	2	160908515	missense	probably damaging	1.00
IGL02812:Emilin3	APN	2	160908729	nonsense	probably null
IGL02813:Emilin3	APN	2	160908729	nonsense	probably null
IGL02892:Emilin3	APN	2	160909149	missense	possibly damaging	0.72
IGL03012:Emilin3	APN	2	160908729	nonsense	probably null
IGL03017:Emilin3	APN	2	160908729	nonsense	probably null
IGL03083:Emilin3	APN	2	160908729	nonsense	probably null
IGL03094:Emilin3	APN	2	160908729	nonsense	probably null
IGL03163:Emilin3	APN	2	160908729	nonsense	probably null
IGL03206:Emilin3	APN	2	160910799	missense	probably damaging	1.00
IGL02835:Emilin3	UTSW	2	160908729	nonsense	probably null
IGL03046:Emilin3	UTSW	2	160908729	nonsense	probably null
PIT1430001:Emilin3	UTSW	2	160908482	missense	possibly damaging	0.48
R0373:Emilin3	UTSW	2	160909817	missense	probably benign	0.00
R0392:Emilin3	UTSW	2	160910879	unclassified	probably benign
R0420:Emilin3	UTSW	2	160910879	unclassified	probably benign
R0627:Emilin3	UTSW	2	160908176	missense	probably damaging	1.00
R0628:Emilin3	UTSW	2	160910879	unclassified	probably benign
R0671:Emilin3	UTSW	2	160908329	missense	probably damaging	1.00
R1655:Emilin3	UTSW	2	160910866	critical splice acceptor site	probably null
R2016:Emilin3	UTSW	2	160909610	missense	possibly damaging	0.85
R2017:Emilin3	UTSW	2	160909610	missense	possibly damaging	0.85
R3624:Emilin3	UTSW	2	160908257	missense	possibly damaging	0.59
R4062:Emilin3	UTSW	2	160907796	missense	probably benign
R4307:Emilin3	UTSW	2	160908317	missense	probably damaging	1.00
R4365:Emilin3	UTSW	2	160908486	missense	probably benign
R4669:Emilin3	UTSW	2	160910797	missense	probably benign	0.00
R5076:Emilin3	UTSW	2	160909318	critical splice acceptor site	probably null
R5227:Emilin3	UTSW	2	160909265	missense	probably damaging	1.00
R5725:Emilin3	UTSW	2	160908490	nonsense	probably null
R6030:Emilin3	UTSW	2	160909185	missense	probably benign
R6030:Emilin3	UTSW	2	160909185	missense	probably benign
R6919:Emilin3	UTSW	2	160908098	missense	probably damaging	1.00
R7353:Emilin3	UTSW	2	160908821	missense	probably damaging	0.99
R7618:Emilin3	UTSW	2	160909279	missense	probably benign	0.04
R7773:Emilin3	UTSW	2	160910798	nonsense	probably null
R7785:Emilin3	UTSW	2	160910774	nonsense	probably null
R8082:Emilin3	UTSW	2	160908146	missense	probably damaging	0.99
R8187:Emilin3	UTSW	2	160908080	missense	possibly damaging	0.49
R8887:Emilin3	UTSW	2	160909188	missense	possibly damaging	0.52
R9241:Emilin3	UTSW	2	160908257	missense	possibly damaging	0.59
RF009:Emilin3	UTSW	2	160909092	missense	probably benign	0.00
Z1177:Emilin3	UTSW	2	160907801	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCTCAAAGCCATCCAGCAG -3'
(R):5'- TTGGTGAGCGGCTAGAACAG -3'

Sequencing Primer
(F):5'- AGCCATCCAGCAGGCTCC -3'
(R):5'- CACCCTGAGTGGATTGGTAGC -3'

Posted On

2017-02-28