Mutagenetix > Incidental Mutation

Incidental Mutation 'R4365:Emilin3'

325699

Institutional Source

Beutler Lab

Gene Symbol

Emilin3

Ensembl Gene

ENSMUSG00000050700

Gene Name

elastin microfibril interfacer 3

Synonyms

Emilin5, EMILIN-T

MMRRC Submission

041113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160906437-160912328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160908486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 401 (R401G)

Ref Sequence

ENSEMBL: ENSMUSP00000105080 (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: R448G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: R448G

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: R401G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: R401G

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

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	T	12: 8,016,083	I4318F	possibly damaging	Het
Btrc	G	A	19: 45,513,480	D213N	probably damaging	Het
C4b	T	A	17: 34,734,743	I964F	possibly damaging	Het
Cacna1f	G	T	X: 7,609,974	A123S	probably damaging	Het
Ccdc153	G	A	9: 44,243,592	A71T	probably damaging	Het
Celsr3	C	A	9: 108,829,847	D1176E	possibly damaging	Het
Cfap46	A	C	7: 139,650,952	V920G	probably damaging	Het
Cnot10	T	A	9: 114,631,881	K74*	probably null	Het
Dnajb12	T	C	10: 59,879,766	F30S	probably damaging	Het
F5	A	G	1: 164,184,950	T478A	probably damaging	Het
Hspa4l	C	A	3: 40,766,809		probably null	Het
Il1rl2	G	T	1: 40,351,791	R298L	probably benign	Het
Lipo2	A	T	19: 33,721,708	S307R	probably damaging	Het
Lrit2	T	A	14: 37,072,119	L380Q	probably damaging	Het
Ncan	A	G	8: 70,115,211	S84P	probably damaging	Het
Ncoa2	T	C	1: 13,180,547	I304V	probably damaging	Het
Nfe2l2	T	C	2: 75,679,428	D16G	probably damaging	Het
Nt5dc1	T	C	10: 34,310,381	D397G	probably benign	Het
Obsl1	A	C	1: 75,488,049	L1576R	possibly damaging	Het
Olfr110	T	C	17: 37,499,379	S243P	probably damaging	Het
Olfr491	A	T	7: 108,317,106	I71F	probably benign	Het
Olfr805	A	G	10: 129,723,412	I44T	probably damaging	Het
Pcdh17	A	G	14: 84,448,286	E731G	probably damaging	Het
Rag1	T	A	2: 101,642,943	K618M	probably damaging	Het
Ripor2	C	T	13: 24,721,711	P947S	probably benign	Het
Rnf150	A	G	8: 82,864,115	K36E	probably benign	Het
S100a9	T	C	3: 90,692,774	H105R	unknown	Het
Spindoc	T	C	19: 7,373,854	D246G	possibly damaging	Het
St8sia4	A	T	1: 95,591,792	Y324N	possibly damaging	Het
Tlr11	T	A	14: 50,361,469	I304N	probably damaging	Het
Trpm3	A	G	19: 22,978,330	T1090A	probably benign	Het
Ube4a	T	C	9: 44,960,081	N7D	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
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'- GTTCCAGTACTGCTAGTTCTGAATG -3'
(R):5'- TTGCATCAGAGCCTCGATGG -3'

Sequencing Primer
(F):5'- TTCTGAATGAACAAGCGGCC -3'
(R):5'- AACTGGCTTTGATCAGTGCC -3'

Posted On

2015-07-06