Mutagenetix > Incidental Mutation

Incidental Mutation 'R7305:Emilin1'

567222

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

gp115, 5830419M17Rik, EMILIN-1

MMRRC Submission

045407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R7305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31070746-31078621 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 31074433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 225 (Q225*)

Ref Sequence

ENSEMBL: ENSMUSP00000031055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031053] [ENSMUST00000031055] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]

AlphaFold

Q99K41

Predicted Effect

probably benign
Transcript: ENSMUST00000031053

SMART Domains

Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	293	5.7e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000031055
AA Change: Q225*

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: Q225*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EMI	57	128	1.2e-19	PFAM
low complexity region	141	155	N/A	INTRINSIC
low complexity region	157	171	N/A	INTRINSIC
coiled coil region	174	210	N/A	INTRINSIC
coiled coil region	237	263	N/A	INTRINSIC
coiled coil region	310	342	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
internal_repeat_1	422	474	9.62e-7	PROSPERO
coiled coil region	527	563	N/A	INTRINSIC
low complexity region	606	627	N/A	INTRINSIC
low complexity region	629	639	N/A	INTRINSIC
internal_repeat_1	704	758	9.62e-7	PROSPERO
low complexity region	780	810	N/A	INTRINSIC
Pfam:Collagen	813	870	3.3e-10	PFAM
Pfam:C1q	873	1008	1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201571

SMART Domains

Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	70	2.4e-5	PFAM
Pfam:PfkB	65	249	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201621

SMART Domains

Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	294	1.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202752

SMART Domains

Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	243	5.8e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	T	2: 181,135,209 (GRCm39)	D37V	possibly damaging	Het
Ankhd1	A	G	18: 36,765,258 (GRCm39)	D87G		Het
Ankrd31	A	G	13: 97,015,479 (GRCm39)	S1583G	probably damaging	Het
Ankub1	T	C	3: 57,599,938 (GRCm39)		probably benign	Het
Apba3	A	G	10: 81,107,067 (GRCm39)	D264G	probably damaging	Het
Armh3	A	T	19: 45,880,560 (GRCm39)	M508K	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cnot3	A	T	7: 3,648,479 (GRCm39)		probably benign	Het
Cxxc1	A	G	18: 74,352,467 (GRCm39)	Y349C	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp3a57	A	G	5: 145,307,795 (GRCm39)	I184V	probably benign	Het
D130052B06Rik	GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG	GTCTACACTGTCCTG	11: 33,573,355 (GRCm39)		probably null	Het
Dab1	T	A	4: 104,570,987 (GRCm39)	D210E		Het
Elavl1	G	A	8: 4,375,199 (GRCm39)		probably benign	Het
Eml6	G	T	11: 29,727,258 (GRCm39)	A1288E	probably benign	Het
Eno1	T	C	4: 150,329,796 (GRCm39)		probably null	Het
Eprs1	C	T	1: 185,111,898 (GRCm39)	R303C	probably damaging	Het
Eps15l1	G	A	8: 73,126,878 (GRCm39)	A651V	probably benign	Het
Etl4	A	T	2: 20,714,368 (GRCm39)	I156F	probably damaging	Het
Faim2	A	T	15: 99,411,814 (GRCm39)	I171N	probably damaging	Het
Fam135a	T	A	1: 24,069,939 (GRCm39)	N381I	probably damaging	Het
Fhip1a	G	T	3: 85,637,831 (GRCm39)	P156Q	probably damaging	Het
Gabrg3	T	A	7: 56,384,833 (GRCm39)	M243L	probably benign	Het
Garin2	A	G	12: 78,761,809 (GRCm39)	K158E	possibly damaging	Het
Gm5134	A	G	10: 75,836,233 (GRCm39)	I405V	probably damaging	Het
Gm9376	A	T	14: 118,504,768 (GRCm39)	K67*	probably null	Het
Grm8	A	T	6: 27,761,354 (GRCm39)	I290K	possibly damaging	Het
Hao1	T	A	2: 134,390,121 (GRCm39)	M73L	probably benign	Het
Herc1	A	G	9: 66,369,150 (GRCm39)	D452G		Het
Idh3b	C	A	2: 130,123,413 (GRCm39)	K192N	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,553 (GRCm39)	S63P	probably benign	Het
Itgb2	A	C	10: 77,384,398 (GRCm39)	D173A	probably damaging	Het
Jmjd8	A	T	17: 26,049,301 (GRCm39)	T255S	probably benign	Het
Lamc3	A	C	2: 31,820,714 (GRCm39)	E1243A	probably benign	Het
Map1a	A	G	2: 121,129,939 (GRCm39)	T252A	probably damaging	Het
Mrgpra1	C	A	7: 46,985,203 (GRCm39)	A159S	probably benign	Het
Ndst3	T	C	3: 123,395,131 (GRCm39)	I500V	possibly damaging	Het
Nhsl1	A	G	10: 18,407,434 (GRCm39)	T1523A	possibly damaging	Het
Nr2f1	A	G	13: 78,343,298 (GRCm39)	I322T	probably damaging	Het
Nup210	T	C	6: 91,064,948 (GRCm39)	E184G	probably damaging	Het
Obsl1	C	T	1: 75,470,590 (GRCm39)	W1022*	probably null	Het
Or2l13	T	A	16: 19,306,449 (GRCm39)	I287N	probably damaging	Het
Or4a77	T	A	2: 89,486,846 (GRCm39)	H313L	probably benign	Het
Or52p2	G	T	7: 102,237,162 (GRCm39)	Q263K	possibly damaging	Het
Or5p51	A	T	7: 107,444,572 (GRCm39)	Y123N	probably damaging	Het
Or6c1	A	T	10: 129,518,149 (GRCm39)	I153N	probably damaging	Het
Or6c65	T	A	10: 129,603,720 (GRCm39)	Y118*	probably null	Het
Otulinl	A	G	15: 27,658,319 (GRCm39)	C184R	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Parp8	A	G	13: 117,031,461 (GRCm39)	L417P	possibly damaging	Het
Pdia6	A	G	12: 17,324,509 (GRCm39)	Q120R	probably benign	Het
Ppp3cc	T	C	14: 70,478,252 (GRCm39)	N290S	probably benign	Het
Prdm5	C	A	6: 65,808,244 (GRCm39)	S63R	possibly damaging	Het
Prr14l	T	C	5: 32,988,445 (GRCm39)	D350G	probably benign	Het
Pwwp2a	T	C	11: 43,607,878 (GRCm39)	L497S	probably damaging	Het
R3hdm2	A	G	10: 127,312,547 (GRCm39)	N430D	probably benign	Het
Rad51ap2	A	G	12: 11,507,344 (GRCm39)	N422S	possibly damaging	Het
Rbbp8	G	A	18: 11,805,638 (GRCm39)		probably null	Het
Rsf1	GGCGGCGGC	GGCGGCGGCAGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Slc22a6	G	A	19: 8,599,522 (GRCm39)		probably null	Het
Slc28a3	T	A	13: 58,714,045 (GRCm39)	E440V	possibly damaging	Het
Slc30a5	A	T	13: 100,947,932 (GRCm39)	I482K	probably damaging	Het
Slco1a1	A	T	6: 141,870,223 (GRCm39)	F305Y	probably damaging	Het
Slco1a8	G	A	6: 141,938,220 (GRCm39)	A253V	probably damaging	Het
Slco4c1	T	C	1: 96,756,690 (GRCm39)	N544S	probably damaging	Het
Smpd4	T	A	16: 17,459,647 (GRCm39)	I656N	probably damaging	Het
Spata31h1	A	T	10: 82,120,953 (GRCm39)	I4019K	probably benign	Het
Taok1	A	T	11: 77,432,500 (GRCm39)	L771*	probably null	Het
Tmem231	T	C	8: 112,641,927 (GRCm39)	D209G	possibly damaging	Het
Tmem25	A	G	9: 44,706,705 (GRCm39)		probably null	Het
Tmem79	T	C	3: 88,240,718 (GRCm39)	T77A	probably benign	Het
Topbp1	A	T	9: 103,205,836 (GRCm39)	T825S	probably damaging	Het
Trpm6	A	T	19: 18,853,455 (GRCm39)	Q1825L	probably benign	Het
Uba1y	T	A	Y: 821,348 (GRCm39)	D110E	probably damaging	Het
Utrn	A	T	10: 12,261,280 (GRCm39)	N3422K	probably benign	Het
Vmn1r219	A	T	13: 23,347,314 (GRCm39)	M168L	probably benign	Het
Vmn2r62	T	C	7: 42,414,235 (GRCm39)	H736R	possibly damaging	Het
Wdr1	T	C	5: 38,697,435 (GRCm39)	H291R	possibly damaging	Het
Zan	T	C	5: 137,413,401 (GRCm39)	T3177A	unknown	Het
Zbtb21	T	C	16: 97,752,495 (GRCm39)	H596R	possibly damaging	Het

Other mutations in Emilin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Emilin1	APN	5	31,071,246 (GRCm39)	missense	probably damaging	0.97
IGL01100:Emilin1	APN	5	31,075,748 (GRCm39)	missense	probably benign
IGL02150:Emilin1	APN	5	31,077,517 (GRCm39)	missense	possibly damaging	0.85
IGL02416:Emilin1	APN	5	31,075,132 (GRCm39)	missense	possibly damaging	0.92
IGL02973:Emilin1	APN	5	31,078,007 (GRCm39)	missense	probably damaging	0.97
R0142:Emilin1	UTSW	5	31,071,264 (GRCm39)	missense	probably benign	0.00
R0419:Emilin1	UTSW	5	31,072,366 (GRCm39)	missense	probably damaging	1.00
R1580:Emilin1	UTSW	5	31,074,764 (GRCm39)	missense	probably damaging	0.99
R1679:Emilin1	UTSW	5	31,077,543 (GRCm39)	missense	probably benign	0.00
R1802:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R1803:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R1864:Emilin1	UTSW	5	31,075,934 (GRCm39)	missense	probably damaging	1.00
R1958:Emilin1	UTSW	5	31,075,160 (GRCm39)	missense	probably benign	0.03
R2061:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2100:Emilin1	UTSW	5	31,075,241 (GRCm39)	missense	probably benign	0.01
R2201:Emilin1	UTSW	5	31,073,036 (GRCm39)	missense	probably benign	0.33
R2206:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2274:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2275:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2285:Emilin1	UTSW	5	31,075,544 (GRCm39)	missense	probably damaging	1.00
R2851:Emilin1	UTSW	5	31,074,509 (GRCm39)	missense	probably benign	0.38
R3706:Emilin1	UTSW	5	31,075,166 (GRCm39)	missense	possibly damaging	0.47
R4205:Emilin1	UTSW	5	31,077,243 (GRCm39)	unclassified	probably benign
R4865:Emilin1	UTSW	5	31,075,128 (GRCm39)	missense	possibly damaging	0.93
R4878:Emilin1	UTSW	5	31,074,410 (GRCm39)	missense	probably benign
R4981:Emilin1	UTSW	5	31,076,695 (GRCm39)	missense	probably benign
R5113:Emilin1	UTSW	5	31,077,964 (GRCm39)	missense	possibly damaging	0.73
R5232:Emilin1	UTSW	5	31,074,323 (GRCm39)	missense	probably benign	0.00
R5853:Emilin1	UTSW	5	31,075,966 (GRCm39)	missense	probably damaging	0.98
R6358:Emilin1	UTSW	5	31,075,562 (GRCm39)	missense	probably damaging	0.98
R6807:Emilin1	UTSW	5	31,072,871 (GRCm39)	missense	probably benign	0.10
R6932:Emilin1	UTSW	5	31,074,421 (GRCm39)	missense	probably damaging	1.00
R6955:Emilin1	UTSW	5	31,075,253 (GRCm39)	missense	probably damaging	1.00
R7047:Emilin1	UTSW	5	31,074,422 (GRCm39)	missense	probably benign	0.05
R7278:Emilin1	UTSW	5	31,078,004 (GRCm39)	missense	probably benign	0.32
R8087:Emilin1	UTSW	5	31,074,444 (GRCm39)	missense	probably damaging	1.00
R8208:Emilin1	UTSW	5	31,074,860 (GRCm39)	missense	probably damaging	1.00
R8516:Emilin1	UTSW	5	31,074,515 (GRCm39)	missense	probably damaging	1.00
R8686:Emilin1	UTSW	5	31,075,040 (GRCm39)	missense	possibly damaging	0.85
R9224:Emilin1	UTSW	5	31,074,823 (GRCm39)	missense	probably damaging	1.00
R9526:Emilin1	UTSW	5	31,075,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGATCCAGCTGCTCAGTCATC -3'
(R):5'- AGCTGCCTTAACAGTTCTTCAC -3'

Sequencing Primer
(F):5'- GCTCAGTCATCCGCCTTTC -3'
(R):5'- AGTTCTTCACTGGGGCCAGAAG -3'

Posted On

2019-06-26