Mutagenetix > Incidental Mutation

Incidental Mutation 'R4424:Syvn1'

327302

Institutional Source

Beutler Lab

Gene Symbol

Syvn1

Ensembl Gene

ENSMUSG00000024807

Gene Name

synovial apoptosis inhibitor 1, synoviolin

Synonyms

Hrd1, 1200010C09Rik

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6096606-6103742 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 6099951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025723] [ENSMUST00000129081] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000156550]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007482

SMART Domains

Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338

Domain	Start	End	E-Value	Type
Pfam:Img2	82	166	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025723

SMART Domains

Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC
transmembrane domain	159	181	N/A	INTRINSIC
RING	240	278	4.7e-10	SMART
low complexity region	286	357	N/A	INTRINSIC
low complexity region	365	426	N/A	INTRINSIC
low complexity region	488	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129081

SMART Domains

Protein: ENSMUSP00000118698
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134667

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138532

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184338

Predicted Effect

probably benign
Transcript: ENSMUST00000156550

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	573	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Haploinsufficiency results in embryonic death due to systemic abnormal apoptosis. Mice are viable when only a single copy is inactivated and they exhibit a resistance to collagen-induced arthritis due to enhanced apoptosis of synovial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Dll3	T	C	7: 27,995,716 (GRCm39)	N362D	probably damaging	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hfe	A	T	13: 23,890,866 (GRCm39)	V91E	probably benign	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myh2	A	T	11: 67,083,551 (GRCm39)	Q1478L	probably benign	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Naprt	G	T	15: 75,764,605 (GRCm39)		probably null	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	probably damaging	Het

Other mutations in Syvn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01988:Syvn1	APN	19	6,102,437 (GRCm39)	missense	probably benign	0.00
IGL02004:Syvn1	APN	19	6,102,437 (GRCm39)	missense	probably benign	0.00
IGL02218:Syvn1	APN	19	6,100,229 (GRCm39)	missense	probably damaging	1.00
IGL02335:Syvn1	APN	19	6,100,123 (GRCm39)	critical splice donor site	probably null
IGL02385:Syvn1	APN	19	6,098,570 (GRCm39)	missense	probably damaging	1.00
IGL02700:Syvn1	APN	19	6,097,973 (GRCm39)	missense	probably benign	0.03
IGL02904:Syvn1	APN	19	6,099,845 (GRCm39)	nonsense	probably null
R0833:Syvn1	UTSW	19	6,102,483 (GRCm39)	missense	probably benign	0.04
R1886:Syvn1	UTSW	19	6,099,257 (GRCm39)	missense	possibly damaging	0.84
R2031:Syvn1	UTSW	19	6,100,560 (GRCm39)	missense	probably damaging	1.00
R4299:Syvn1	UTSW	19	6,099,951 (GRCm39)	intron	probably benign
R4347:Syvn1	UTSW	19	6,099,951 (GRCm39)	intron	probably benign
R4422:Syvn1	UTSW	19	6,099,951 (GRCm39)	intron	probably benign
R4423:Syvn1	UTSW	19	6,099,951 (GRCm39)	intron	probably benign
R4425:Syvn1	UTSW	19	6,099,951 (GRCm39)	intron	probably benign
R4647:Syvn1	UTSW	19	6,101,504 (GRCm39)	missense	probably benign	0.13
R5960:Syvn1	UTSW	19	6,100,598 (GRCm39)	missense	probably damaging	1.00
R6388:Syvn1	UTSW	19	6,102,381 (GRCm39)	missense	probably damaging	0.97
R6940:Syvn1	UTSW	19	6,101,214 (GRCm39)	unclassified	probably benign
R7728:Syvn1	UTSW	19	6,101,235 (GRCm39)	missense	unknown
R8079:Syvn1	UTSW	19	6,098,396 (GRCm39)	missense	probably null	1.00
R8272:Syvn1	UTSW	19	6,097,971 (GRCm39)	missense	probably damaging	1.00
R8744:Syvn1	UTSW	19	6,099,198 (GRCm39)	missense	probably damaging	0.99
R8780:Syvn1	UTSW	19	6,100,393 (GRCm39)	missense	probably damaging	1.00
R8802:Syvn1	UTSW	19	6,097,968 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGCACCTCTGTCTTGAAGC -3'
(R):5'- ACCTCATGGCCAGGTACATG -3'

Sequencing Primer
(F):5'- GGGAAGCTGGTACTCACATCCATC -3'
(R):5'- CCAGGTACATGGGCCTAATG -3'

Posted On

2015-07-07