Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Emilin3'

285679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

Emilin5, EMILIN-T

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

160906437-160912328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 160908515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 438 (T438I)

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: T438I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: T438I

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

possibly damaging
Transcript: ENSMUST00000109454
AA Change: T391I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: T391I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Emilin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Emilin3	APN	2	160909783	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
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

Posted On

2015-04-16