Mutagenetix > Incidental Mutation

Incidental Mutation 'R8697:Ssr1'

668799

Institutional Source

Beutler Lab

Gene Symbol

Ssr1

Ensembl Gene

ENSMUSG00000021427

Gene Name

signal sequence receptor, alpha

Synonyms

SSR, TRAPalpha

MMRRC Submission

068551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38155377-38178184 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 38167425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 246 (S246*)

Ref Sequence

ENSEMBL: ENSMUSP00000021864 (fasta)

Gene Model

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

AlphaFold

Q9CY50

Predicted Effect

probably null
Transcript: ENSMUST00000021864
AA Change: S246*

SMART Domains

Protein: ENSMUSP00000021864
Gene: ENSMUSG00000021427
AA Change: S246*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224399

Predicted Effect

probably null
Transcript: ENSMUST00000225246
AA Change: S246*

Predicted Effect

probably null
Transcript: ENSMUST00000225319
AA Change: S246*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,795,565 (GRCm39)	A8T	probably benign	Het
Acacb	T	C	5: 114,351,441 (GRCm39)	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,159,775 (GRCm39)	F248S	probably damaging	Het
Alx4	G	A	2: 93,505,657 (GRCm39)	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,122,783 (GRCm39)	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305 (GRCm39)	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,307,524 (GRCm39)	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,570,865 (GRCm39)	N1063K	possibly damaging	Het
Cad	T	C	5: 31,231,945 (GRCm39)	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,600,577 (GRCm39)	W868R	probably damaging	Het
Cecr2	T	C	6: 120,710,779 (GRCm39)	Y165H	probably damaging	Het
Clip4	G	T	17: 72,163,270 (GRCm39)	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986 (GRCm39)	M236L	probably damaging	Het
Ctps1	T	C	4: 120,399,947 (GRCm39)	D470G	probably benign	Het
Dmwd	A	C	7: 18,812,113 (GRCm39)	Q189P	probably damaging	Het
Dnah17	A	G	11: 117,976,985 (GRCm39)	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,497,998 (GRCm39)	N361S	probably benign	Het
Ephb6	C	T	6: 41,591,157 (GRCm39)	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,239,295 (GRCm39)	Y603*	probably null	Het
Flt3	T	C	5: 147,294,811 (GRCm39)	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,433,249 (GRCm39)	T2692S	probably damaging	Het
Gna12	T	A	5: 140,771,200 (GRCm39)	R157S	probably benign	Het
Gsdmc	A	T	15: 63,651,883 (GRCm39)	S243T	probably benign	Het
Hectd1	A	G	12: 51,819,320 (GRCm39)		probably benign	Het
Hoxd11	G	A	2: 74,513,013 (GRCm39)	G93R	unknown	Het
Hydin	A	G	8: 111,259,515 (GRCm39)	I2496V	probably benign	Het
Igsf10	A	G	3: 59,226,308 (GRCm39)	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,419,196 (GRCm39)	R482*	probably null	Het
Itpr1	A	G	6: 108,500,327 (GRCm39)	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,761,584 (GRCm39)	Q326E	probably benign	Het
Lamp1	A	T	8: 13,224,448 (GRCm39)	M371L	possibly damaging	Het
Lcn6	A	G	2: 25,567,166 (GRCm39)	N56D	probably benign	Het
Map3k10	A	G	7: 27,362,784 (GRCm39)	V434A	probably benign	Het
Mdga1	T	C	17: 30,065,615 (GRCm39)	N331S	probably damaging	Het
Mndal	C	A	1: 173,700,558 (GRCm39)	E138*	probably null	Het
Morc3	T	C	16: 93,667,908 (GRCm39)	V762A	probably benign	Het
Ngef	A	T	1: 87,417,459 (GRCm39)	F279Y	probably damaging	Het
Or10ac1	A	G	6: 42,515,629 (GRCm39)	V109A	probably damaging	Het
Or5m13b	A	T	2: 85,754,200 (GRCm39)	K196I	possibly damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,485,230 (GRCm39)		probably null	Het
Pcdhb4	G	A	18: 37,441,832 (GRCm39)	V381M	probably benign	Het
Ppm1d	T	C	11: 85,227,986 (GRCm39)	Y301H	possibly damaging	Het
Rasgrf1	A	G	9: 89,877,055 (GRCm39)	T807A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sipa1l2	T	C	8: 126,208,855 (GRCm39)	K518E	probably damaging	Het
Skic3	A	G	13: 76,328,274 (GRCm39)	S1441G	probably damaging	Het
Slc52a3	A	G	2: 151,846,396 (GRCm39)	D119G	probably damaging	Het
Srsf4	C	T	4: 131,628,042 (GRCm39)	H379Y	unknown	Het
Tars2	C	T	3: 95,653,374 (GRCm39)	E509K	possibly damaging	Het
Tepsin	G	T	11: 119,988,354 (GRCm39)	Y34*	probably null	Het
Tmtc2	A	G	10: 105,205,831 (GRCm39)	I488T	probably damaging	Het
Trgc2	A	T	13: 19,491,514 (GRCm39)	M69K		Het
Ttn	A	G	2: 76,575,120 (GRCm39)	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,644,244 (GRCm39)	M714T	probably benign	Het
Vwa3b	T	A	1: 37,115,461 (GRCm39)	H308Q	probably benign	Het
Washc2	A	G	6: 116,206,220 (GRCm39)	D480G	probably benign	Het
Xcl1	C	T	1: 164,763,008 (GRCm39)	V18I	unknown	Het
Zcchc2	C	A	1: 105,958,494 (GRCm39)	N988K	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
R1625:Ssr1	UTSW	13	38,173,479 (GRCm39)	critical splice donor site	probably null
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
R9086:Ssr1	UTSW	13	38,167,449 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTAGAGTCAACAAGCAATGG -3'
(R):5'- TCCTGGCAGACAAAATGTGTATTAGG -3'

Sequencing Primer
(F):5'- TCAACAAGCAATGGAAAAGATCAGTG -3'
(R):5'- CTTTAATCCTAGGACTCAGGAGGC -3'

Posted On

2021-04-30