Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Emilin3'

189003

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

Emilin5, EMILIN-T

MMRRC Submission

039691-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1655 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

160906437-160912328 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 160910866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105080 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000057169

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700

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 null
Transcript: ENSMUST00000109454

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly 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
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
R5914:Emilin3	UTSW	2	160909070	missense	probably damaging	1.00
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'- TGTGGCCCAGATAGGTTCTCTGAAG -3'
(R):5'- TGGCTCAGTAGACAGTAGACACCC -3'

Sequencing Primer
(F):5'- CAGATAGGTTCTCTGAAGCCCAG -3'
(R):5'- GTAGACAGTAGACACCCATCAAGG -3'

Posted On

2014-05-09