Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Emilin3'

395746

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

Emilin5, EMILIN-T

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5076 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

160906437-160912328 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 160909318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 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 benign
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

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

0.9495

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	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
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'- AGGATCTCACTCAGAGGAGG -3'
(R):5'- ATGCAGACTGACTAAGCTCTC -3'

Sequencing Primer
(F):5'- TCTGTCTTCTGGGGCCACAAG -3'
(R):5'- GCTGTGTCCAGGGATAAA -3'

Posted On

2016-06-21