Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Srp68'

652489

Institutional Source

Beutler Lab

Gene Symbol

Srp68

Ensembl Gene

ENSMUSG00000020780

Gene Name

signal recognition particle 68

Synonyms

2610024I03Rik

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116135992-116165043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116143589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 369 (S369P)

Ref Sequence

ENSEMBL: ENSMUSP00000021133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]

AlphaFold

Q8BMA6

Predicted Effect

probably benign
Transcript: ENSMUST00000021133
AA Change: S369P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: S369P

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
Pfam:SRP68	74	596	5.5e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106425
AA Change: S331P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: S331P

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
PDB:4P3F\|B	46	215	1e-112	PDB
Blast:TPR	149	182	5e-15	BLAST
Blast:TPR	424	457	1e-14	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Calhm2	G	A	19: 47,098,755 (GRCm39)	Q310*	probably null	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Ldlrap1	T	C	4: 134,484,736 (GRCm39)	K86R	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lmod1	C	A	1: 135,292,734 (GRCm39)	P530T	possibly damaging	Het
Lmod1	A	G	1: 135,291,763 (GRCm39)	K206R	probably benign	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Or5w19	A	C	2: 87,698,437 (GRCm39)	Y34S	probably damaging	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prelid1	T	A	13: 55,470,672 (GRCm39)	H33Q	probably damaging	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	possibly damaging	Het

Other mutations in Srp68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Srp68	APN	11	116,138,638 (GRCm39)	splice site	probably benign
IGL02974:Srp68	APN	11	116,137,051 (GRCm39)	missense	probably benign	0.31
tipsy	UTSW	11	116,136,638 (GRCm39)	missense	probably damaging	1.00
P0028:Srp68	UTSW	11	116,151,746 (GRCm39)	missense	probably damaging	0.99
R0211:Srp68	UTSW	11	116,156,377 (GRCm39)	missense	probably damaging	1.00
R0211:Srp68	UTSW	11	116,156,377 (GRCm39)	missense	probably damaging	1.00
R0468:Srp68	UTSW	11	116,139,590 (GRCm39)	missense	probably damaging	0.98
R0796:Srp68	UTSW	11	116,137,509 (GRCm39)	missense	probably benign	0.12
R1291:Srp68	UTSW	11	116,154,107 (GRCm39)	missense	probably damaging	1.00
R1906:Srp68	UTSW	11	116,141,587 (GRCm39)	missense	probably damaging	1.00
R2149:Srp68	UTSW	11	116,151,693 (GRCm39)	missense	possibly damaging	0.93
R3732:Srp68	UTSW	11	116,164,782 (GRCm39)	nonsense	probably null
R4651:Srp68	UTSW	11	116,164,840 (GRCm39)	missense	probably benign
R4652:Srp68	UTSW	11	116,164,840 (GRCm39)	missense	probably benign
R4686:Srp68	UTSW	11	116,156,227 (GRCm39)	missense	probably damaging	0.98
R4924:Srp68	UTSW	11	116,151,684 (GRCm39)	missense	probably damaging	1.00
R5077:Srp68	UTSW	11	116,136,638 (GRCm39)	missense	probably damaging	1.00
R5095:Srp68	UTSW	11	116,139,573 (GRCm39)	missense	probably damaging	0.98
R5166:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5167:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5168:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5769:Srp68	UTSW	11	116,137,495 (GRCm39)	missense	probably damaging	1.00
R6379:Srp68	UTSW	11	116,156,227 (GRCm39)	missense	probably damaging	1.00
R6577:Srp68	UTSW	11	116,156,290 (GRCm39)	missense	probably damaging	1.00
R6777:Srp68	UTSW	11	116,153,730 (GRCm39)	missense	probably damaging	1.00
R7089:Srp68	UTSW	11	116,162,733 (GRCm39)	splice site	probably null
R7561:Srp68	UTSW	11	116,139,593 (GRCm39)	missense	probably damaging	0.99
R7823:Srp68	UTSW	11	116,156,265 (GRCm39)	missense	probably damaging	1.00
R7854:Srp68	UTSW	11	116,144,909 (GRCm39)	splice site	probably null
R8206:Srp68	UTSW	11	116,164,809 (GRCm39)	missense	probably damaging	0.98
Z1088:Srp68	UTSW	11	116,164,861 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCCACTCACCTGGGCA -3'
(R):5'- TTACAGTGGCAAAGGGGTAATCT -3'

Sequencing Primer
(F):5'- TGTAACTCAAGTTCCAGGGC -3'
(R):5'- TGTCACTCTGTAGACCAGGCTG -3'

Posted On

2020-10-20