Mutagenetix > Incidental Mutation

Incidental Mutation 'R0627:Emilin3'

57588

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

1110013O17Rik, EMILIN-T, Emilin5

MMRRC Submission

038816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0627 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

160748357-160754248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160750096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 551 (L551P)

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: L551P

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

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: L551P

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: L504P

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

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: L504P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124920

Meta Mutation Damage Score

0.6906

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

99% (111/112)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	T	A	15: 89,208,508 (GRCm39)	Y149*	probably null	Het
Ahi1	G	A	10: 20,841,421 (GRCm39)	R236H	probably benign	Het
Armcx4	A	G	X: 133,596,572 (GRCm39)	N2160S	possibly damaging	Het
Asns	A	T	6: 7,675,516 (GRCm39)	D495E	probably benign	Het
Atosb	G	T	4: 43,036,242 (GRCm39)	P163Q	probably damaging	Het
Bcl9	A	G	3: 97,112,789 (GRCm39)	V1222A	probably damaging	Het
Cd46	A	T	1: 194,774,494 (GRCm39)	C14S	probably benign	Het
Cdk11b	T	A	4: 155,725,229 (GRCm39)		probably benign	Het
Cdkl3	T	C	11: 51,902,135 (GRCm39)	Y115H	probably damaging	Het
Cep41	C	A	6: 30,656,630 (GRCm39)	C274F	probably damaging	Het
Ces1a	C	A	8: 93,768,671 (GRCm39)	V108F	probably benign	Het
Clca4b	A	G	3: 144,634,020 (GRCm39)	Y132H	probably benign	Het
Col5a3	T	C	9: 20,686,781 (GRCm39)	E1323G	unknown	Het
Cttnbp2	A	G	6: 18,367,372 (GRCm39)	*1139Q	probably null	Het
Cyp2d9	T	A	15: 82,339,991 (GRCm39)	I127N	probably damaging	Het
Dennd1b	A	G	1: 139,008,957 (GRCm39)	Y220C	probably damaging	Het
Desi2	T	C	1: 178,076,918 (GRCm39)	S141P	possibly damaging	Het
Dgcr2	A	G	16: 17,661,872 (GRCm39)	S453P	probably damaging	Het
Dnah3	A	G	7: 119,620,138 (GRCm39)	L1586P	probably damaging	Het
Dpep3	T	C	8: 106,705,363 (GRCm39)	D129G	possibly damaging	Het
Eci3	C	T	13: 35,132,126 (GRCm39)	V241I	possibly damaging	Het
Ecm2	A	T	13: 49,674,559 (GRCm39)		probably benign	Het
Erap1	A	C	13: 74,823,933 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,289,519 (GRCm39)	D928G	probably benign	Het
Fancc	C	A	13: 63,465,292 (GRCm39)	A472S	probably damaging	Het
Fkbp7	A	T	2: 76,503,188 (GRCm39)	D57E	probably damaging	Het
Gabbr2	T	A	4: 46,681,223 (GRCm39)	I703F	possibly damaging	Het
Gabrg3	A	T	7: 56,374,343 (GRCm39)	C408S	probably damaging	Het
Gm8674	T	C	13: 50,053,751 (GRCm39)		noncoding transcript	Het
Gnas	G	A	2: 174,139,928 (GRCm39)		probably benign	Het
Grhl3	A	G	4: 135,279,992 (GRCm39)	V354A	probably benign	Het
Gsdme	G	T	6: 50,206,259 (GRCm39)		probably benign	Het
H2-D1	A	G	17: 35,484,898 (GRCm39)	E253G	probably damaging	Het
Habp2	A	G	19: 56,302,478 (GRCm39)	T31A	probably damaging	Het
Ifrd1	A	G	12: 40,256,986 (GRCm39)		probably null	Het
Il20	A	G	1: 130,837,476 (GRCm39)		probably benign	Het
Isx	A	T	8: 75,619,328 (GRCm39)	I160F	possibly damaging	Het
Itgb2l	T	G	16: 96,224,111 (GRCm39)		probably benign	Het
Kcnv1	T	G	15: 44,976,277 (GRCm39)		probably benign	Het
Kif17	T	C	4: 138,015,798 (GRCm39)		probably null	Het
Kirrel3	A	C	9: 34,946,470 (GRCm39)	D743A	probably damaging	Het
Lmod3	T	C	6: 97,225,032 (GRCm39)	D263G	probably damaging	Het
Manf	A	G	9: 106,766,385 (GRCm39)	L132P	probably damaging	Het
Mark2	C	T	19: 7,259,325 (GRCm39)		probably null	Het
Med10	G	A	13: 69,963,720 (GRCm39)	S107N	possibly damaging	Het
Med31	A	G	11: 72,104,601 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,309,987 (GRCm39)	A155S	probably benign	Het
Mprip	T	A	11: 59,660,798 (GRCm39)	L2193Q	probably damaging	Het
Mylk	A	G	16: 34,820,799 (GRCm39)	N126S	probably damaging	Het
Myo16	A	G	8: 10,489,689 (GRCm39)	I715V	probably benign	Het
Myo18b	T	C	5: 112,946,700 (GRCm39)	T1591A	probably benign	Het
Myt1	T	A	2: 181,437,482 (GRCm39)	D64E	probably benign	Het
Ndufa10	A	T	1: 92,397,618 (GRCm39)	Y61N	probably damaging	Het
Nob1	A	G	8: 108,142,856 (GRCm39)	F275S	probably damaging	Het
Nop2	T	C	6: 125,116,667 (GRCm39)	V333A	possibly damaging	Het
Ogdh	T	A	11: 6,297,216 (GRCm39)	V545D	possibly damaging	Het
Or1l4b	T	G	2: 37,036,342 (GRCm39)	N39K	probably damaging	Het
Or4p21	A	G	2: 88,276,563 (GRCm39)	S240P	probably damaging	Het
Or5b107	A	G	19: 13,142,614 (GRCm39)	T79A	probably benign	Het
Or5t16	T	C	2: 86,819,358 (GRCm39)	N54S	probably benign	Het
Or6d13	T	A	6: 116,517,949 (GRCm39)	N178K	possibly damaging	Het
Or6n2	G	T	1: 173,897,643 (GRCm39)	V260F	probably damaging	Het
Or9k2b	A	G	10: 130,016,557 (GRCm39)	F64S	probably damaging	Het
Pcdhb1	T	C	18: 37,398,774 (GRCm39)	F242L	probably damaging	Het
Pkd2l2	A	G	18: 34,558,155 (GRCm39)	Y278C	probably damaging	Het
Plxdc1	T	A	11: 97,823,030 (GRCm39)		probably null	Het
Ppp2r5b	A	G	19: 6,282,664 (GRCm39)		probably benign	Het
Pramel31	C	A	4: 144,089,416 (GRCm39)	L245I	probably benign	Het
Prelid2	T	A	18: 42,070,717 (GRCm39)	T39S	possibly damaging	Het
Prkd1	A	T	12: 50,536,824 (GRCm39)	F87I	probably benign	Het
Prl3d3	C	T	13: 27,340,830 (GRCm39)	T4I	probably damaging	Het
Proser3	T	A	7: 30,240,208 (GRCm39)	T299S	probably benign	Het
Ptprc	G	T	1: 137,996,058 (GRCm39)	H1095N	probably damaging	Het
Rab11fip5	G	T	6: 85,325,033 (GRCm39)	P425T	probably benign	Het
Rac2	T	C	15: 78,449,168 (GRCm39)	T115A	probably damaging	Het
Rtl9	C	A	X: 141,884,271 (GRCm39)	T561K	possibly damaging	Het
Runx2	T	C	17: 44,969,392 (GRCm39)		probably benign	Het
Rxfp1	C	T	3: 79,555,518 (GRCm39)	V613I	probably benign	Het
Scn9a	T	C	2: 66,367,721 (GRCm39)	K656R	probably benign	Het
Sec31b	A	G	19: 44,514,046 (GRCm39)	S406P	probably benign	Het
Septin5	T	C	16: 18,444,115 (GRCm39)	D44G	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35c2	T	C	2: 165,124,056 (GRCm39)	T94A	possibly damaging	Het
Slc8a3	T	A	12: 81,361,616 (GRCm39)	D401V	probably damaging	Het
Slitrk1	A	T	14: 109,149,671 (GRCm39)	C347S	probably damaging	Het
Smg1	G	T	7: 117,767,084 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,276,483 (GRCm39)	K610E	probably benign	Het
Spata31e2	A	G	1: 26,724,970 (GRCm39)	M70T	probably benign	Het
Sppl2a	A	G	2: 126,762,337 (GRCm39)		probably benign	Het
Stk-ps2	T	A	1: 46,068,851 (GRCm39)		noncoding transcript	Het
Sult3a1	T	C	10: 33,740,010 (GRCm39)	M23T	probably benign	Het
Syt5	A	G	7: 4,548,682 (GRCm39)	L50P	possibly damaging	Het
Tacr1	A	G	6: 82,532,012 (GRCm39)	I303V	possibly damaging	Het
Trip12	C	A	1: 84,746,318 (GRCm39)	V487F	probably damaging	Het
Vcp	A	G	4: 42,983,011 (GRCm39)	S612P	possibly damaging	Het
Vmn1r47	A	G	6: 89,999,788 (GRCm39)	I307V	probably null	Het
Vmn1r83	T	G	7: 12,055,919 (GRCm39)	D46A	probably damaging	Het
Vmn2r118	G	T	17: 55,917,772 (GRCm39)	Q247K	probably benign	Het
Vmn2r94	C	T	17: 18,477,427 (GRCm39)	C328Y	probably damaging	Het
Vps13b	T	A	15: 35,372,145 (GRCm39)	Y13*	probably null	Het
Vps13d	C	T	4: 144,813,754 (GRCm39)	R3241H	probably damaging	Het
Wdr5b	A	G	16: 35,862,840 (GRCm39)	T320A	probably benign	Het
Zfhx2	A	T	14: 55,302,784 (GRCm39)	D1733E	probably benign	Het
Zfp541	A	G	7: 15,829,607 (GRCm39)		probably benign	Het
Zfp708	A	T	13: 67,218,781 (GRCm39)	Y314*	probably null	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
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
RF009:Emilin3	UTSW	2	160,751,012 (GRCm39)	missense	probably benign	0.00
Z1177:Emilin3	UTSW	2	160,749,721 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAAGTGGCCCACTGTATGCTGGAG -3'
(R):5'- TACTGGAACAAAGGCTGGTGTCCC -3'

Sequencing Primer
(F):5'- ATGCCAGCCTTGAGTTGC -3'
(R):5'- TGTCCCTGGAGACCTCGTG -3'

Posted On

2013-07-11