Incidental Mutation 'IGL01065:Srpra'
| ID |
51858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srpra
|
| Ensembl Gene |
ENSMUSG00000032042 |
| Gene Name |
signal recognition particle receptor alpha |
| Synonyms |
D11Mgi27, 1300011P19Rik, Srpr |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL01065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35122499-35128299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35124734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 112
(W112R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000059057]
[ENSMUST00000063782]
[ENSMUST00000121564]
[ENSMUST00000127996]
[ENSMUST00000138287]
[ENSMUST00000132799]
[ENSMUST00000151658]
[ENSMUST00000154691]
[ENSMUST00000142595]
[ENSMUST00000138692]
[ENSMUST00000139703]
|
| AlphaFold |
Q9DBG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034541
AA Change: W247R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: W247R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRP-alpha_N
|
27 |
301 |
4.4e-69 |
PFAM |
|
SRP54_N
|
318 |
395 |
4.04e-6 |
SMART |
|
AAA
|
415 |
568 |
9.65e-10 |
SMART |
|
SRP54
|
416 |
635 |
3.47e-78 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043805
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
462 |
2.8e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059057
|
| SMART Domains |
Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063782
|
| SMART Domains |
Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2_2
|
75 |
225 |
7.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121564
|
| SMART Domains |
Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127996
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
456 |
1.8e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138287
AA Change: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132799
|
| SMART Domains |
Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRP54
|
3 |
132 |
8.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151658
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
121 |
5.8e-9 |
PFAM |
|
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154691
|
| SMART Domains |
Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133739
|
| SMART Domains |
Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142595
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
187 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138692
|
| SMART Domains |
Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139703
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
184 |
1.6e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,299 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,713,653 (GRCm39) |
N401I |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,490,724 (GRCm39) |
H591R |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,946,015 (GRCm39) |
S446G |
possibly damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,005 (GRCm39) |
S262P |
probably damaging |
Het |
| Clrn1 |
T |
C |
3: 58,792,446 (GRCm39) |
K6E |
probably damaging |
Het |
| D17H6S53E |
A |
T |
17: 35,346,259 (GRCm39) |
K57* |
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,734,917 (GRCm39) |
I17F |
probably benign |
Het |
| Depdc7 |
A |
C |
2: 104,552,426 (GRCm39) |
Y460* |
probably null |
Het |
| Disp3 |
T |
C |
4: 148,345,640 (GRCm39) |
Y400C |
probably damaging |
Het |
| Edem3 |
T |
C |
1: 151,653,302 (GRCm39) |
Y203H |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,902,676 (GRCm39) |
C679R |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,632,923 (GRCm39) |
T1194A |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,224 (GRCm39) |
D473G |
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,808,294 (GRCm39) |
L253P |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
| Hoxb6 |
A |
G |
11: 96,191,635 (GRCm39) |
T186A |
probably damaging |
Het |
| Kif24 |
A |
G |
4: 41,423,639 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,500 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,410,907 (GRCm39) |
I1427T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,299,780 (GRCm39) |
E3091K |
possibly damaging |
Het |
| Lzts1 |
T |
C |
8: 69,588,744 (GRCm39) |
N404S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,451,877 (GRCm39) |
D1470E |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,584,456 (GRCm39) |
N125Y |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,639,644 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,447 (GRCm39) |
R83* |
probably null |
Het |
| Notch3 |
A |
T |
17: 32,365,390 (GRCm39) |
Y1107* |
probably null |
Het |
| Rc3h2 |
T |
A |
2: 37,267,856 (GRCm39) |
|
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,138,090 (GRCm39) |
E65G |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,394,893 (GRCm39) |
N760S |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,210,416 (GRCm39) |
I362T |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,065,967 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
G |
T |
11: 69,836,782 (GRCm39) |
|
probably benign |
Het |
| Slc39a13 |
T |
A |
2: 90,894,051 (GRCm39) |
I256F |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,320 (GRCm39) |
N23I |
possibly damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,686,629 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
G |
A |
17: 80,523,703 (GRCm39) |
G121R |
probably damaging |
Het |
| Tuba3a |
C |
T |
6: 125,259,920 (GRCm39) |
V9M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,111 (GRCm39) |
K244E |
unknown |
Het |
| Usp39 |
T |
C |
6: 72,316,958 (GRCm39) |
Y141C |
probably damaging |
Het |
|
| Other mutations in Srpra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01806:Srpra
|
APN |
9 |
35,126,201 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02581:Srpra
|
APN |
9 |
35,126,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03002:Srpra
|
APN |
9 |
35,126,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03132:Srpra
|
APN |
9 |
35,125,574 (GRCm39) |
splice site |
probably null |
|
|
R0294:Srpra
|
UTSW |
9 |
35,126,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Srpra
|
UTSW |
9 |
35,126,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Srpra
|
UTSW |
9 |
35,127,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0531:Srpra
|
UTSW |
9 |
35,124,797 (GRCm39) |
missense |
probably benign |
|
|
R1112:Srpra
|
UTSW |
9 |
35,126,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1507:Srpra
|
UTSW |
9 |
35,126,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1771:Srpra
|
UTSW |
9 |
35,124,147 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1970:Srpra
|
UTSW |
9 |
35,124,834 (GRCm39) |
splice site |
probably null |
|
|
R1971:Srpra
|
UTSW |
9 |
35,124,834 (GRCm39) |
splice site |
probably null |
|
|
R2442:Srpra
|
UTSW |
9 |
35,123,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4475:Srpra
|
UTSW |
9 |
35,124,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4575:Srpra
|
UTSW |
9 |
35,125,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4576:Srpra
|
UTSW |
9 |
35,125,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4578:Srpra
|
UTSW |
9 |
35,125,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4793:Srpra
|
UTSW |
9 |
35,124,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4930:Srpra
|
UTSW |
9 |
35,126,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4942:Srpra
|
UTSW |
9 |
35,126,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5517:Srpra
|
UTSW |
9 |
35,122,646 (GRCm39) |
missense |
probably benign |
|
|
R6208:Srpra
|
UTSW |
9 |
35,127,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8340:Srpra
|
UTSW |
9 |
35,127,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Srpra
|
UTSW |
9 |
35,126,133 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8861:Srpra
|
UTSW |
9 |
35,127,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9481:Srpra
|
UTSW |
9 |
35,126,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Srpra
|
UTSW |
9 |
35,125,569 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9765:Srpra
|
UTSW |
9 |
35,122,670 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2013-06-21 |
Incidental Mutation