Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Syvn1'

221302

Institutional Source

Beutler Lab

Gene Symbol

Syvn1

Ensembl Gene

ENSMUSG00000024807

Gene Name

synovial apoptosis inhibitor 1, synoviolin

Synonyms

Hrd1, 1200010C09Rik

MMRRC Submission

040038-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2031 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

6096606-6103742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6100560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 317 (R317H)

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

unknown
Transcript: ENSMUST00000025723
AA Change: R266H

SMART Domains

Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: R266H

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 damaging
Transcript: ENSMUST00000134667
AA Change: R317H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: R317H

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 damaging
Transcript: ENSMUST00000138532
AA Change: R317H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: R317H

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

probably damaging
Transcript: ENSMUST00000156550
AA Change: R317H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: R317H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184338

Meta Mutation Damage Score

0.9344

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	possibly 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
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
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'- ACTCTGCCATCTTAACCAGGTAC -3'
(R):5'- GGCAAATGAAGGGCCACTTAC -3'

Sequencing Primer
(F):5'- TCTTAACCAGGTACCCAGATGC -3'
(R):5'- CCACTTACAATTAGGGGGCTG -3'

Posted On

2014-08-25