Incidental Mutation 'R5167:Srp68'
| ID |
397358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srp68
|
| Ensembl Gene |
ENSMUSG00000020780 |
| Gene Name |
signal recognition particle 68 |
| Synonyms |
2610024I03Rik |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116135992-116165043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 116156300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 147
(E147D)
|
| 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: E147D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: E147D
| 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: E109D
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: E109D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
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 |
|
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'- GAAGTCATGTGTCTAATTTCCCC -3'
(R):5'- AACTGTGAGGTATAGCCCTGG -3'
Sequencing Primer
(F):5'- CATGTGTCTAATTTCCCCAATGAGG -3'
(R):5'- TATAGCCCTGGATGGTGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation