Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Ssr1'

174996

Institutional Source

Beutler Lab

Gene Symbol

Ssr1

Ensembl Gene

ENSMUSG00000021427

Gene Name

signal sequence receptor, alpha

Synonyms

SSR, TRAPalpha

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38155377-38178184 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 38173479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021864] [ENSMUST00000224399] [ENSMUST00000225246] [ENSMUST00000225319]

AlphaFold

Q9CY50

Predicted Effect

probably null
Transcript: ENSMUST00000021864

SMART Domains

Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427

Domain	Start	End	E-Value	Type
Pfam:TRAP_alpha	6	285	1.1e-124	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000224399

Predicted Effect

probably null
Transcript: ENSMUST00000225246

Predicted Effect

probably null
Transcript: ENSMUST00000225319

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality, subcutaneous edema, and cardiac defects, including absence of septation of the proximal part of the outflow tract, double outlet right ventricle, persistent truncus arteriosis, and abnormal development of the endocardial cushion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	probably damaging	Het

Other mutations in Ssr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Ssr1	APN	13	38,167,407 (GRCm39)	missense	probably damaging	1.00
IGL02189:Ssr1	APN	13	38,171,492 (GRCm39)	critical splice donor site	probably null
R1102:Ssr1	UTSW	13	38,171,591 (GRCm39)	missense	probably benign	0.29
R2022:Ssr1	UTSW	13	38,173,525 (GRCm39)	missense	probably damaging	0.96
R2055:Ssr1	UTSW	13	38,171,761 (GRCm39)	splice site	probably benign
R4274:Ssr1	UTSW	13	38,169,266 (GRCm39)	missense	possibly damaging	0.78
R6006:Ssr1	UTSW	13	38,169,972 (GRCm39)	frame shift	probably null
R6659:Ssr1	UTSW	13	38,171,666 (GRCm39)	missense	probably damaging	0.98
R6920:Ssr1	UTSW	13	38,169,998 (GRCm39)	missense	probably damaging	1.00
R7034:Ssr1	UTSW	13	38,178,001 (GRCm39)	missense	probably null
R7036:Ssr1	UTSW	13	38,178,001 (GRCm39)	missense	probably null
R8697:Ssr1	UTSW	13	38,167,425 (GRCm39)	nonsense	probably null
R9086:Ssr1	UTSW	13	38,167,449 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGACACACAGCACGGGTTTAAAAG -3'
(R):5'- TGTTCATGTTCCCCAGTTACGACAC -3'

Sequencing Primer
(F):5'- ACACATCAGTAATCACACGTCTA -3'
(R):5'- cgacactgtaaacgacactg -3'

Posted On

2014-04-24