Mutagenetix > Incidental Mutation

Incidental Mutation 'R4423:Syvn1'

327239

Institutional Source

Beutler Lab

Gene Symbol

Syvn1

Ensembl Gene

ENSMUSG00000024807

Gene Name

synovial apoptosis inhibitor 1, synoviolin

Synonyms

Hrd1, 1200010C09Rik

MMRRC Submission

041143-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4423 (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

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	A	10: 100,441,495 (GRCm39)	P100Q	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,577 (GRCm39)	Y210C	probably benign	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
Asgr2	G	A	11: 69,996,211 (GRCm39)	V218I	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfap144	A	T	11: 58,687,357 (GRCm39)		probably null	Het
Cnot10	T	A	9: 114,446,988 (GRCm39)	I363F	probably damaging	Het
Coch	T	A	12: 51,644,932 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,006,718 (GRCm39)	G2199D	probably benign	Het
Dock9	A	G	14: 121,799,465 (GRCm39)		probably null	Het
Dst	T	C	1: 34,227,474 (GRCm39)	I1689T	possibly damaging	Het
Eif2ak4	T	C	2: 118,269,547 (GRCm39)	F762S	probably benign	Het
Eif2b5	A	G	16: 20,320,469 (GRCm39)	D195G	probably benign	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Far1	T	A	7: 113,139,805 (GRCm39)	S84R	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Galnt15	A	T	14: 31,780,226 (GRCm39)	I508F	possibly damaging	Het
Grik1	T	C	16: 87,720,088 (GRCm39)	T745A	probably benign	Het
Hira	A	G	16: 18,774,952 (GRCm39)	D959G	possibly damaging	Het
Hsf5	T	C	11: 87,522,460 (GRCm39)	L351P	probably damaging	Het
Icosl	C	T	10: 77,907,707 (GRCm39)	T89I	possibly damaging	Het
Iws1	T	A	18: 32,216,503 (GRCm39)	N414K	probably damaging	Het
Kif1b	A	G	4: 149,298,562 (GRCm39)	S1035P	probably damaging	Het
Lcp2	G	T	11: 34,028,226 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,896,662 (GRCm39)	T631I	probably damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Nin	T	A	12: 70,089,752 (GRCm39)	K1221M	probably damaging	Het
Nup155	A	G	15: 8,150,948 (GRCm39)	T333A	probably damaging	Het
Or10d4c	A	G	9: 39,558,412 (GRCm39)	Y130C	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Or8b43	A	G	9: 38,360,662 (GRCm39)	T165A	probably benign	Het
Plod2	T	C	9: 92,484,042 (GRCm39)	L502S	probably benign	Het
Pnpt1	A	G	11: 29,103,375 (GRCm39)		probably null	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
Prkcq	T	C	2: 11,260,980 (GRCm39)	I344T	possibly damaging	Het
Rbl1	A	G	2: 157,010,875 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sec62	T	C	3: 30,868,431 (GRCm39)	M220T	unknown	Het
Shprh	T	G	10: 11,062,262 (GRCm39)	V1219G	possibly damaging	Het
Slc25a46	T	C	18: 31,742,651 (GRCm39)	T72A	probably benign	Het
Slc4a2	G	A	5: 24,644,846 (GRCm39)	W1040*	probably null	Het
Slc5a1	T	C	5: 33,312,018 (GRCm39)	V470A	possibly damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Trpm2	T	C	10: 77,770,902 (GRCm39)	D678G	probably benign	Het
Tut7	T	C	13: 59,969,863 (GRCm39)	K11E	probably damaging	Het
Ube3a	T	C	7: 58,925,861 (GRCm39)	I234T	probably benign	Het
Vmn2r57	T	C	7: 41,076,064 (GRCm39)	K483E	probably damaging	Het
Wnk1	T	A	6: 119,903,387 (GRCm39)	S2111C	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
R4424: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'- GCACCTCTGTCTTGAAGCCTAG -3'
(R):5'- ACCTCATGGCCAGGTACATG -3'

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

Posted On

2015-07-07