Mutagenetix > Incidental Mutation

Incidental Mutation 'R0468:Srp68'

41761

Institutional Source

Beutler Lab

Gene Symbol

Srp68

Ensembl Gene

ENSMUSG00000020780

Gene Name

signal recognition particle 68

Synonyms

2610024I03Rik

MMRRC Submission

038668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0468 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

116135992-116165043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116139590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 453 (I453K)

Ref Sequence

ENSEMBL: ENSMUSP00000021133 (fasta)

Gene Model

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

AlphaFold

Q8BMA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021133
AA Change: I453K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: I453K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106425
AA Change: I415K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: I415K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128808

Meta Mutation Damage Score

0.1865

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,240,084 (GRCm39)	H1298R	possibly damaging	Het
5530400C23Rik	T	C	6: 133,271,421 (GRCm39)	L155P	probably benign	Het
6820408C15Rik	A	T	2: 152,283,186 (GRCm39)	R283S	probably benign	Het
Aldh1l2	T	A	10: 83,354,542 (GRCm39)	E104D	probably benign	Het
Anxa3	T	C	5: 96,958,958 (GRCm39)	V22A	probably benign	Het
Bcl7b	T	C	5: 135,209,737 (GRCm39)	F188L	probably benign	Het
Brinp1	T	A	4: 68,681,013 (GRCm39)	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,355,511 (GRCm39)		probably benign	Het
Ccdc180	T	C	4: 45,923,271 (GRCm39)	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,075,750 (GRCm39)	L1294P	probably damaging	Het
Cltc	G	A	11: 86,595,452 (GRCm39)		probably benign	Het
Col11a1	T	C	3: 114,010,707 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,252,042 (GRCm39)	Y566F	unknown	Het
Dhx29	A	G	13: 113,099,811 (GRCm39)	Q1148R	probably benign	Het
Ehbp1	A	G	11: 22,119,184 (GRCm39)		probably benign	Het
Ehd3	A	G	17: 74,112,374 (GRCm39)	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Gm4553	C	A	7: 141,719,362 (GRCm39)	C22F	unknown	Het
Hibadh	C	T	6: 52,534,755 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,260,840 (GRCm39)	C1613Y	probably damaging	Het
Hydin	G	T	8: 111,139,855 (GRCm39)	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,511,047 (GRCm39)	M401L	probably benign	Het
Igsf8	G	A	1: 172,146,363 (GRCm39)	V454M	probably damaging	Het
Irx4	G	T	13: 73,414,839 (GRCm39)		probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn2	C	T	18: 45,692,538 (GRCm39)	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,203,630 (GRCm39)	R400H	unknown	Het
Lrp6	T	C	6: 134,462,624 (GRCm39)	T679A	possibly damaging	Het
Map9	T	C	3: 82,281,510 (GRCm39)		probably null	Het
Men1	T	A	19: 6,386,953 (GRCm39)	V5E	probably null	Het
Mettl14	T	C	3: 123,165,061 (GRCm39)	D93G	probably damaging	Het
Neb	G	T	2: 52,101,568 (GRCm39)	R4601S	probably damaging	Het
Nell1	A	G	7: 49,878,594 (GRCm39)	T272A	probably damaging	Het
Or10ag53	A	T	2: 87,082,599 (GRCm39)	N106I	probably benign	Het
Or2ak6	A	T	11: 58,592,619 (GRCm39)	I31F	probably damaging	Het
Pclo	C	A	5: 14,727,302 (GRCm39)		probably benign	Het
Pdia5	A	G	16: 35,217,877 (GRCm39)	L502P	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,192,181 (GRCm39)	C803F	probably damaging	Het
Pmfbp1	A	G	8: 110,240,600 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,139,205 (GRCm39)	Y468C	probably damaging	Het
Pxdn	G	T	12: 30,044,485 (GRCm39)	G488W	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sec31b	T	A	19: 44,506,947 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,433,478 (GRCm39)	V1333I	probably benign	Het
Slamf1	A	G	1: 171,619,939 (GRCm39)		probably benign	Het
Slc23a3	T	A	1: 75,109,874 (GRCm39)	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,338,500 (GRCm39)	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500 (GRCm39)	V449D	probably benign	Het
Steap3	A	T	1: 120,162,030 (GRCm39)	V414D	probably damaging	Het
Tagln2	A	G	1: 172,333,788 (GRCm39)	N131D	probably benign	Het
Tmem132d	T	C	5: 128,346,267 (GRCm39)	Y85C	probably damaging	Het
Vcam1	A	T	3: 115,909,595 (GRCm39)	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,219,423 (GRCm39)	T306A	probably benign	Het
Zfyve1	A	T	12: 83,602,048 (GRCm39)		probably benign	Het
Zgrf1	T	A	3: 127,355,690 (GRCm39)	N305K	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
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
R8407:Srp68	UTSW	11	116,143,589 (GRCm39)	missense	probably benign	0.00
Z1088:Srp68	UTSW	11	116,164,861 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAATTCAGATTAGGCTCCCGAC -3'
(R):5'- TGACAAATGGGTACAGGGCTGC -3'

Sequencing Primer
(F):5'- CCTGTGGCTCTCTTAGATGAAGAAC -3'
(R):5'- CCTAAAAGGTCTTTGGGGCTTC -3'

Posted On

2013-05-23