Mutagenetix > Incidental Mutation

Incidental Mutation 'RF009:Emilin3'

603032

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

1110013O17Rik, EMILIN-T, Emilin5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160748357-160754248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160751012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 246 (S246G)

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 benign
Transcript: ENSMUST00000057169
AA Change: S246G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: S246G

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
AA Change: S199G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: S199G

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	ACACACACCCGC	AC	4: 136,189,661 (GRCm39)		probably null	Het
AI182371	A	G	2: 34,979,209 (GRCm39)	V153A	possibly damaging	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,693,975 (GRCm39)		probably benign	Het
Apoc2	C	T	7: 19,405,767 (GRCm39)	M71I	probably benign	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Atrn	C	A	2: 130,748,842 (GRCm39)	T121K	probably benign	Het
Btnl12	T	C	16: 37,674,841 (GRCm39)	D207G	probably benign	Het
Ccdc170	C	CCAG	10: 4,511,030 (GRCm39)		probably benign	Het
Cckbr	GCA	G	7: 105,083,893 (GRCm39)		probably null	Het
Cdk13	T	C	13: 17,978,329 (GRCm39)	D303G	unknown	Het
Cfap65	C	A	1: 74,944,806 (GRCm39)	R1477L	probably damaging	Het
Chd2	A	G	7: 73,169,410 (GRCm39)	S37P	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,527,679 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,176,127 (GRCm39)	I259V	probably benign	Het
Csnk1d	A	T	11: 120,862,453 (GRCm39)	N275K	possibly damaging	Het
Dmxl1	A	C	18: 50,026,461 (GRCm39)	R1856S	probably damaging	Het
Dnah5	T	C	15: 28,204,165 (GRCm39)	V14A	probably benign	Het
Edc4	G	A	8: 106,615,812 (GRCm39)	S729N	probably benign	Het
Epc2	T	G	2: 49,422,249 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,560,068 (GRCm39)	F101I	probably benign	Het
Fam171b	GCAGCA	GCAGCACCAGCA	2: 83,643,224 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT	17: 23,981,135 (GRCm39)		probably null	Het
Gab3	TTC	TTCCTC	X: 74,043,598 (GRCm39)		probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,630 (GRCm39)		probably null	Het
Gabpa	C	A	16: 84,641,224 (GRCm39)	Q93K	probably benign	Het
Gabre	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	X: 71,314,318 (GRCm39)		probably benign	Het
Gabre	GGCTCA	GGCTCAAGCTCA	X: 71,314,319 (GRCm39)		probably benign	Het
H2-T3	TCCCGAAGAAC	TC	17: 36,500,294 (GRCm39)		probably benign	Het
Htr5a	A	G	5: 28,047,859 (GRCm39)	D138G	probably damaging	Het
Ifi207	G	A	1: 173,556,558 (GRCm39)	P727S	probably benign	Het
Ifna13	T	A	4: 88,562,145 (GRCm39)	S160C	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Klri2	GGAG	GG	6: 129,710,737 (GRCm39)		probably null	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 92,925,438 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lrch4	A	G	5: 137,635,805 (GRCm39)		probably null	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Map1a	GCTCCAGC	GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC	2: 121,136,782 (GRCm39)		probably benign	Het
Mettl25	T	C	10: 105,669,100 (GRCm39)		probably benign	Het
Mex3b	A	G	7: 82,516,968 (GRCm39)	D37G	probably damaging	Het
Mon1a	T	A	9: 107,778,433 (GRCm39)	V219E	probably damaging	Het
Myh3	TTACG	TTACGTACG	11: 66,977,183 (GRCm39)		probably null	Het
Myh3	GATTA	GATTAATTA	11: 66,977,181 (GRCm39)		probably null	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo5b	T	A	18: 74,777,070 (GRCm39)	C377S	probably damaging	Het
Nefh	ACTTGGCCTCAGCTGGGG	ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG	11: 4,890,997 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,146,150 (GRCm39)	D468G	probably damaging	Het
Ntn5	T	C	7: 45,342,684 (GRCm39)		probably null	Het
Oog2	T	C	4: 143,921,855 (GRCm39)	V255A	probably benign	Het
Or5ac15	T	A	16: 58,940,274 (GRCm39)	H53L	probably damaging	Het
Or8b37	A	T	9: 37,959,043 (GRCm39)	H175L	probably damaging	Het
Pdgfd	C	A	9: 6,288,624 (GRCm39)	L93M	probably damaging	Het
Pgls	G	T	8: 72,045,107 (GRCm39)	V83L	probably damaging	Het
Pigw	C	A	11: 84,767,987 (GRCm39)	Q447H	probably damaging	Het
Pnma8a	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,695,352 (GRCm39)		probably benign	Het
Poc1a	C	A	9: 106,172,417 (GRCm39)	L253M	possibly damaging	Het
Ppl	T	A	16: 4,915,795 (GRCm39)	E589D	probably benign	Het
Prkar1b	A	G	5: 139,094,376 (GRCm39)	S71P	probably benign	Het
Prx	T	C	7: 27,218,385 (GRCm39)	F1101S	probably damaging	Het
Rffl	A	G	11: 82,736,598 (GRCm39)	V26A	probably benign	Het
Scube3	T	A	17: 28,387,371 (GRCm39)	L923Q	probably damaging	Het
Setd2	C	T	9: 110,379,779 (GRCm39)	P1198L	probably damaging	Het
Shank2	C	A	7: 143,965,308 (GRCm39)	A972E	possibly damaging	Het
Slc10a6	A	G	5: 103,756,858 (GRCm39)	L302P	probably damaging	Het
Slc29a3	C	T	10: 60,586,340 (GRCm39)	G42D	probably benign	Het
Spart	T	C	3: 55,035,027 (GRCm39)	V471A	probably benign	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Sspo	T	A	6: 48,436,919 (GRCm39)	Y1284*	probably null	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tff1	CTTCCTG	C	17: 31,383,901 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Tnfrsf25	T	C	4: 152,204,081 (GRCm39)	W341R	probably damaging	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,136 (GRCm39)		probably benign	Het
Trav8d-1	T	A	14: 53,016,207 (GRCm39)	L31Q	probably damaging	Het
Ttc23	A	T	7: 67,375,777 (GRCm39)	I452F	possibly damaging	Het
Uimc1	T	C	13: 55,198,598 (GRCm39)	E526G	possibly damaging	Het
Ulbp1	T	A	10: 7,397,405 (GRCm39)	K233N	unknown	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Utrn	T	TGTTACCC	10: 12,509,689 (GRCm39)		probably null	Het
Vmn1r9	C	T	6: 57,048,465 (GRCm39)	S180L	probably benign	Het
Wdr97	GAGGAGGA	G	15: 76,247,367 (GRCm39)		probably null	Het
Zfp598	CACC	CACCCCTACC	17: 24,899,761 (GRCm39)		probably benign	Het

Other mutations in Emilin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Emilin3	APN	2	160,751,703 (GRCm39)	missense	probably damaging	1.00
IGL02231:Emilin3	APN	2	160,750,435 (GRCm39)	missense	probably damaging	1.00
IGL02812:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL02813:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL02892:Emilin3	APN	2	160,751,069 (GRCm39)	missense	possibly damaging	0.72
IGL03012:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03017:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03083:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03094:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03163:Emilin3	APN	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03206:Emilin3	APN	2	160,752,719 (GRCm39)	missense	probably damaging	1.00
IGL02835:Emilin3	UTSW	2	160,750,649 (GRCm39)	nonsense	probably null
IGL03046:Emilin3	UTSW	2	160,750,649 (GRCm39)	nonsense	probably null
PIT1430001:Emilin3	UTSW	2	160,750,402 (GRCm39)	missense	possibly damaging	0.48
R0373:Emilin3	UTSW	2	160,751,737 (GRCm39)	missense	probably benign	0.00
R0392:Emilin3	UTSW	2	160,752,799 (GRCm39)	unclassified	probably benign
R0420:Emilin3	UTSW	2	160,752,799 (GRCm39)	unclassified	probably benign
R0627:Emilin3	UTSW	2	160,750,096 (GRCm39)	missense	probably damaging	1.00
R0628:Emilin3	UTSW	2	160,752,799 (GRCm39)	unclassified	probably benign
R0671:Emilin3	UTSW	2	160,750,249 (GRCm39)	missense	probably damaging	1.00
R1655:Emilin3	UTSW	2	160,752,786 (GRCm39)	critical splice acceptor site	probably null
R2016:Emilin3	UTSW	2	160,751,530 (GRCm39)	missense	possibly damaging	0.85
R2017:Emilin3	UTSW	2	160,751,530 (GRCm39)	missense	possibly damaging	0.85
R3624:Emilin3	UTSW	2	160,750,177 (GRCm39)	missense	possibly damaging	0.59
R4062:Emilin3	UTSW	2	160,749,716 (GRCm39)	missense	probably benign
R4307:Emilin3	UTSW	2	160,750,237 (GRCm39)	missense	probably damaging	1.00
R4365:Emilin3	UTSW	2	160,750,406 (GRCm39)	missense	probably benign
R4669:Emilin3	UTSW	2	160,752,717 (GRCm39)	missense	probably benign	0.00
R5076:Emilin3	UTSW	2	160,751,238 (GRCm39)	critical splice acceptor site	probably null
R5227:Emilin3	UTSW	2	160,751,185 (GRCm39)	missense	probably damaging	1.00
R5725:Emilin3	UTSW	2	160,750,410 (GRCm39)	nonsense	probably null
R5914:Emilin3	UTSW	2	160,750,990 (GRCm39)	missense	probably damaging	1.00
R6030:Emilin3	UTSW	2	160,751,105 (GRCm39)	missense	probably benign
R6030:Emilin3	UTSW	2	160,751,105 (GRCm39)	missense	probably benign
R6919:Emilin3	UTSW	2	160,750,018 (GRCm39)	missense	probably damaging	1.00
R7353:Emilin3	UTSW	2	160,750,741 (GRCm39)	missense	probably damaging	0.99
R7618:Emilin3	UTSW	2	160,751,199 (GRCm39)	missense	probably benign	0.04
R7773:Emilin3	UTSW	2	160,752,718 (GRCm39)	nonsense	probably null
R7785:Emilin3	UTSW	2	160,752,694 (GRCm39)	nonsense	probably null
R8082:Emilin3	UTSW	2	160,750,066 (GRCm39)	missense	probably damaging	0.99
R8187:Emilin3	UTSW	2	160,750,000 (GRCm39)	missense	possibly damaging	0.49
R8887:Emilin3	UTSW	2	160,751,108 (GRCm39)	missense	possibly damaging	0.52
R9241:Emilin3	UTSW	2	160,750,177 (GRCm39)	missense	possibly damaging	0.59
Z1177:Emilin3	UTSW	2	160,749,721 (GRCm39)	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'- CGCCTGTCGCAAGCATATG -3'

Posted On

2019-12-04