Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Syvn1'

637815

Institutional Source

Beutler Lab

Gene Symbol

Syvn1

Ensembl Gene

ENSMUSG00000024807

Gene Name

synovial apoptosis inhibitor 1, synoviolin

Synonyms

Hrd1, 1200010C09Rik

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8272 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6096606-6103742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6097971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 3 (R3H)

Ref Sequence

ENSEMBL: ENSMUSP00000114960 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000025723
AA Change: R3H

SMART Domains

Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: R3H

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 damaging
Transcript: ENSMUST00000129081
AA Change: R3H

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

SMART Domains

Protein: ENSMUSP00000118698
Gene: ENSMUSG00000024807
AA Change: R3H

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: R3H

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

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: R3H

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: R3H

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

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: R3H

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: ENSMUST00000156550
AA Change: R3H

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

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: R3H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Asmt	A	T	X: 169,106,460 (GRCm39)	D20V	possibly damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,215,820 (GRCm39)	T677A	probably benign	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,026,969 (GRCm39)	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332 (GRCm39)	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Trim27	G	A	13: 21,364,780 (GRCm39)	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	probably benign	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
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
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'- TTGCCTCAGTGACTCCCTAGAG -3'
(R):5'- GACATGTAGCCCCACTTCTG -3'

Sequencing Primer
(F):5'- CGAGATTGATCCAAGTTCTAGGCC -3'
(R):5'- GCCCCACTTCTGCCCCTC -3'

Posted On

2020-07-28