Mutagenetix > Incidental Mutations

Incidental Mutation 'R2149:Srp68'

234130

Institutional Source

Beutler Lab

Gene Symbol

Srp68

Ensembl Gene

ENSMUSG00000020780

Gene Name

signal recognition particle 68

Synonyms

2610024I03Rik

MMRRC Submission

040152-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116245166-116274217 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116260867 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 301 (T301K)

Ref Sequence

ENSEMBL: ENSMUSP00000021133 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021133
AA Change: T301K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: T301K

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: T263K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: T263K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	A	G	1: 43,742,336	D126G	probably damaging	Het
1700006A11Rik	T	C	3: 124,409,686	E414G	probably benign	Het
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,267,508	T317A	possibly damaging	Het
Acap3	T	G	4: 155,905,625	L750R	probably damaging	Het
Anapc7	T	A	5: 122,443,826	S511T	probably benign	Het
Anp32a	T	A	9: 62,371,802	F46Y	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arid2	T	C	15: 96,370,835	I943T	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC003331	A	T	1: 150,388,559	N66K	probably benign	Het
Btnl6	T	C	17: 34,514,347	N218S	possibly damaging	Het
Capn11	T	C	17: 45,633,107		probably null	Het
Clcnkb	C	T	4: 141,408,017	G470D	probably damaging	Het
Clic6	T	A	16: 92,499,207	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,771,270	V1626D	unknown	Het
Col6a4	C	A	9: 106,076,929	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,641,340	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Emilin2	T	C	17: 71,273,992	S580G	probably benign	Het
Fbn2	C	A	18: 58,102,325		probably null	Het
Gfm1	T	C	3: 67,474,560	L693P	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,226,982	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,599,785		probably benign	Het
Hmgxb3	T	C	18: 61,157,674	T376A	probably benign	Het
Hspa12b	A	G	2: 131,143,057	D416G	probably damaging	Het
Immt	C	T	6: 71,844,675	R28*	probably null	Het
Iqgap1	T	C	7: 80,762,560	Y180C	probably damaging	Het
Kcnq3	T	A	15: 66,023,729	D322V	probably damaging	Het
Kifc2	C	A	15: 76,662,221	L268I	probably benign	Het
Lama1	T	C	17: 67,773,865	M1296T	possibly damaging	Het
Lipk	A	G	19: 34,021,617	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,757	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,531,682	D268E	probably damaging	Het
Ly6c2	T	C	15: 75,108,543	*132W	probably null	Het
Msh6	A	G	17: 87,986,088	E757G	probably damaging	Het
Mtss1l	T	C	8: 110,726,383	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Nalcn	A	T	14: 123,370,017	I680N	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1501	A	C	19: 13,838,582	V197G	probably damaging	Het
Olfr61	C	T	7: 140,638,052	T117M	probably damaging	Het
Olfr713	A	T	7: 107,036,338	Y61F	possibly damaging	Het
Olfr912	T	C	9: 38,581,508	V77A	probably benign	Het
Oosp2	A	T	19: 11,649,614	L17*	probably null	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,792,836	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pira2	G	A	7: 3,844,171	P124L	probably damaging	Het
Plpp4	C	T	7: 129,379,371	T157I	probably benign	Het
Polrmt	G	A	10: 79,740,275	Q545*	probably null	Het
Ptprs	A	G	17: 56,417,706	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,402,119		probably null	Het
Setd1a	T	A	7: 127,786,518	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,767,272	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,907,399	D473G	probably damaging	Het
Slc8a2	A	T	7: 16,159,164	H917L	probably damaging	Het
Sorbs2	A	C	8: 45,795,443	D442A	probably damaging	Het
Stab2	A	T	10: 86,865,040	C457*	probably null	Het
Stk31	T	G	6: 49,439,218	S652R	possibly damaging	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,271,449	E1212K	probably damaging	Het
Thada	C	T	17: 84,441,764	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem206	T	G	1: 191,345,109	F210V	probably benign	Het
Trim10	C	T	17: 36,877,014	A374V	probably benign	Het
Try10	T	C	6: 41,356,561	V80A	probably benign	Het
Ttn	T	C	2: 76,729,363	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,075,345	Q351K	probably benign	Het
Vmn1r120	A	T	7: 21,052,964	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,675,359	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,588,963	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,126,642	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,336,537	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Srp68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Srp68	APN	11	116247812	splice site	probably benign
IGL02974:Srp68	APN	11	116246225	missense	probably benign	0.31
tipsy	UTSW	11	116245812	missense	probably damaging	1.00
P0028:Srp68	UTSW	11	116260920	missense	probably damaging	0.99
R0211:Srp68	UTSW	11	116265551	missense	probably damaging	1.00
R0211:Srp68	UTSW	11	116265551	missense	probably damaging	1.00
R0468:Srp68	UTSW	11	116248764	missense	probably damaging	0.98
R0796:Srp68	UTSW	11	116246683	missense	probably benign	0.12
R1291:Srp68	UTSW	11	116263281	missense	probably damaging	1.00
R1906:Srp68	UTSW	11	116250761	missense	probably damaging	1.00
R3732:Srp68	UTSW	11	116273956	nonsense	probably null
R4651:Srp68	UTSW	11	116274014	missense	probably benign
R4652:Srp68	UTSW	11	116274014	missense	probably benign
R4686:Srp68	UTSW	11	116265401	missense	probably damaging	0.98
R4924:Srp68	UTSW	11	116260858	missense	probably damaging	1.00
R5077:Srp68	UTSW	11	116245812	missense	probably damaging	1.00
R5095:Srp68	UTSW	11	116248747	missense	probably damaging	0.98
R5166:Srp68	UTSW	11	116265474	missense	probably damaging	0.99
R5167:Srp68	UTSW	11	116265474	missense	probably damaging	0.99
R5168:Srp68	UTSW	11	116265474	missense	probably damaging	0.99
R5769:Srp68	UTSW	11	116246669	missense	probably damaging	1.00
R6379:Srp68	UTSW	11	116265401	missense	probably damaging	1.00
R6577:Srp68	UTSW	11	116265464	missense	probably damaging	1.00
R6777:Srp68	UTSW	11	116262904	missense	probably damaging	1.00
R7089:Srp68	UTSW	11	116271907	splice site	probably null
R7561:Srp68	UTSW	11	116248767	missense	probably damaging	0.99
R7823:Srp68	UTSW	11	116265439	missense	probably damaging	1.00
R7854:Srp68	UTSW	11	116254083	splice site	probably null
R8206:Srp68	UTSW	11	116273983	missense	probably damaging	0.98
R8407:Srp68	UTSW	11	116252763	missense	probably benign	0.00
Z1088:Srp68	UTSW	11	116274035	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGAGCAGCCTCTTTGACTC -3'
(R):5'- CTGAGCAAGTAACACAGATGC -3'

Sequencing Primer
(F):5'- GACTCCTTTTCCCATGACTGTCAC -3'
(R):5'- AACTGGGGGAAGAATTTTGACTTTCC -3'

Posted On

2014-10-01