Mutagenetix > Incidental Mutation

Incidental Mutation 'R8744:Syvn1'

663450

Institutional Source

Beutler Lab

Gene Symbol

Syvn1

Ensembl Gene

ENSMUSG00000024807

Gene Name

synovial apoptosis inhibitor 1, synoviolin

Synonyms

Hrd1, 1200010C09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6096606-6103742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6099198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 149 (G149D)

Ref Sequence

ENSEMBL: ENSMUSP00000114960 (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 damaging
Transcript: ENSMUST00000129081
AA Change: G149D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118698
Gene: ENSMUSG00000024807
AA Change: G149D

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: G149D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: G149D

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: G149D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: G149D

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: G149D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: G149D

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: 98.4%

Validation Efficiency

98% (64/65)

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
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
Adam2	A	G	14: 66,272,165 (GRCm39)		probably null	Het
Akt2	A	T	7: 27,317,738 (GRCm39)	D94V	probably benign	Het
Anapc7	C	T	5: 122,566,211 (GRCm39)	S40L	probably benign	Het
Ash1l	G	T	3: 88,965,890 (GRCm39)	A2431S	possibly damaging	Het
Atoh1	A	T	6: 64,706,902 (GRCm39)	Q199L	probably damaging	Het
Atp10b	T	C	11: 43,121,177 (GRCm39)	C947R	probably damaging	Het
Ccdc50	G	A	16: 27,255,148 (GRCm39)	V199I	possibly damaging	Het
Ccne1	A	T	7: 37,802,598 (GRCm39)	C65S	probably benign	Het
Cep152	A	G	2: 125,436,791 (GRCm39)		probably null	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cyp4a10	A	G	4: 115,386,667 (GRCm39)	D438G	probably benign	Het
Dgkb	A	G	12: 38,488,611 (GRCm39)	H659R	probably damaging	Het
Dhx29	A	G	13: 113,089,418 (GRCm39)	I730V	possibly damaging	Het
Dync2h1	G	A	9: 7,011,220 (GRCm39)	Q3658*	probably null	Het
Eif2ak4	C	A	2: 118,261,474 (GRCm39)	C671*	probably null	Het
Eif4g3	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	4: 137,721,372 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,889,925 (GRCm39)	H446R	unknown	Het
Epb41l2	C	T	10: 25,317,725 (GRCm39)	L81F	probably damaging	Het
Ercc8	G	A	13: 108,320,307 (GRCm39)	A298T	probably benign	Het
Fbxo10	T	C	4: 45,043,880 (GRCm39)	M648V	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gnpda2	C	T	5: 69,735,459 (GRCm39)	A211T	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,469,926 (GRCm39)	Y58H	possibly damaging	Het
Igkv4-81	T	C	6: 68,968,046 (GRCm39)	I18M	possibly damaging	Het
Itgav	G	T	2: 83,600,427 (GRCm39)	A312S	probably benign	Het
Itpr1	G	T	6: 108,354,763 (GRCm39)	A457S	possibly damaging	Het
Kcna10	T	C	3: 107,101,702 (GRCm39)	L111P	probably damaging	Het
Kcnh7	T	C	2: 63,012,433 (GRCm39)	R92G	possibly damaging	Het
Lamc2	G	A	1: 153,019,484 (GRCm39)	P486S	probably benign	Het
Lrba	C	T	3: 86,211,640 (GRCm39)	T420M	probably benign	Het
Lrrc52	G	A	1: 167,294,150 (GRCm39)	T45M	probably benign	Het
Lsm8	C	A	6: 18,853,638 (GRCm39)	A80E	probably benign	Het
Ly6g	T	A	15: 75,027,518 (GRCm39)	S9T	probably benign	Het
Mcc	A	G	18: 44,857,639 (GRCm39)	Y159H	probably benign	Het
Megf11	T	C	9: 64,451,970 (GRCm39)		probably null	Het
Mrpl9	T	A	3: 94,355,082 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,506,989 (GRCm39)	F210L	possibly damaging	Het
Or13l2	A	G	3: 97,317,597 (GRCm39)	V300A	probably benign	Het
Or5d40	T	A	2: 88,015,723 (GRCm39)	C167*	probably null	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pcdhga2	A	G	18: 37,804,373 (GRCm39)	H739R	probably benign	Het
Pcdhga8	A	G	18: 37,860,827 (GRCm39)	T628A	probably damaging	Het
Plekhn1	C	T	4: 156,318,364 (GRCm39)	R86H	probably damaging	Het
Pofut1	T	A	2: 153,101,461 (GRCm39)	W72R	probably benign	Het
Polr3b	C	A	10: 84,464,488 (GRCm39)		probably benign	Het
Rab3b	A	T	4: 108,781,184 (GRCm39)	I104F	probably damaging	Het
Rab5b	A	T	10: 128,518,751 (GRCm39)	V127D	probably damaging	Het
Rnf170	A	G	8: 26,619,408 (GRCm39)	M211V	unknown	Het
Rpl7	T	C	1: 16,172,113 (GRCm39)	T218A	probably benign	Het
Serinc2	T	C	4: 130,158,988 (GRCm39)		probably benign	Het
Socs2	T	A	10: 95,228,662 (GRCm39)	Q196L		Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Them5	T	C	3: 94,253,472 (GRCm39)	S161P	probably damaging	Het
Tlr1	A	T	5: 65,083,873 (GRCm39)	Y235N	possibly damaging	Het
Toporsl	T	C	4: 52,611,967 (GRCm39)	L620P	probably benign	Het
Traf3	A	T	12: 111,228,230 (GRCm39)	E480D	probably benign	Het
Trav13n-4	A	G	14: 53,601,399 (GRCm39)	Y56C	probably damaging	Het
Trps1	T	C	15: 50,524,642 (GRCm39)	Y1096C	probably damaging	Het
Usp2	A	G	9: 43,998,510 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,911,491 (GRCm39)	L512Q	probably benign	Het
Vmn1r175	T	C	7: 23,508,403 (GRCm39)	T75A	probably benign	Het
Zan	A	G	5: 137,426,126 (GRCm39)	V2550A	unknown	Het
Zfp235	A	T	7: 23,839,924 (GRCm39)	E114D	possibly damaging	Het
Zmym1	A	T	4: 126,945,165 (GRCm39)	D141E	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
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
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'- TGGGCAAAAGTAGTTCCCAG -3'
(R):5'- CCTAGAAGTCTATGAGGGTGGC -3'

Sequencing Primer
(F):5'- AGTAGTTCCCAGAGGATTCGGC -3'
(R):5'- AAGATGGCAGAGGCTCCCTG -3'

Posted On

2021-03-08