Incidental Mutation 'R6595:Srp72'
| ID |
524851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srp72
|
| Ensembl Gene |
ENSMUSG00000036323 |
| Gene Name |
signal recognition particle 72 |
| Synonyms |
5730576P14Rik, 72kDa |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77122548-77147782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77132047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 242
(T242I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101087]
[ENSMUST00000120550]
|
| AlphaFold |
F8VQC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101087
AA Change: T242I
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: T242I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
19 |
70 |
2.7e-2 |
PFAM |
|
Pfam:SRP_TPR_like
|
30 |
157 |
5.5e-25 |
PFAM |
|
Pfam:TPR_8
|
176 |
208 |
2.3e-3 |
PFAM |
|
Pfam:TPR_1
|
226 |
259 |
2.4e-4 |
PFAM |
|
Pfam:TPR_2
|
226 |
259 |
4.9e-5 |
PFAM |
|
Pfam:TPR_8
|
226 |
259 |
1.1e-2 |
PFAM |
|
Pfam:TPR_9
|
412 |
490 |
1.3e-3 |
PFAM |
|
Pfam:SRP72
|
531 |
588 |
6.2e-26 |
PFAM |
|
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120550
|
| SMART Domains |
Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
19 |
72 |
2.5e-2 |
PFAM |
|
Blast:TPR
|
109 |
142 |
2e-11 |
BLAST |
|
Blast:TPR
|
176 |
209 |
5e-10 |
BLAST |
|
Pfam:TPR_6
|
280 |
310 |
2.5e-3 |
PFAM |
|
Pfam:TPR_9
|
351 |
429 |
1.4e-3 |
PFAM |
|
Pfam:SRP72
|
465 |
527 |
5.8e-24 |
PFAM |
|
low complexity region
|
569 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150661
|
| Meta Mutation Damage Score |
0.0928 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
Het |
|
| Other mutations in Srp72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Srp72
|
APN |
5 |
77,132,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00915:Srp72
|
APN |
5 |
77,126,460 (GRCm39) |
nonsense |
probably null |
|
|
IGL02731:Srp72
|
APN |
5 |
77,142,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4468001:Srp72
|
UTSW |
5 |
77,142,053 (GRCm39) |
missense |
probably benign |
|
|
R0009:Srp72
|
UTSW |
5 |
77,135,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0318:Srp72
|
UTSW |
5 |
77,132,047 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1645:Srp72
|
UTSW |
5 |
77,146,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1678:Srp72
|
UTSW |
5 |
77,128,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Srp72
|
UTSW |
5 |
77,135,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2037:Srp72
|
UTSW |
5 |
77,124,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Srp72
|
UTSW |
5 |
77,132,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2876:Srp72
|
UTSW |
5 |
77,143,767 (GRCm39) |
splice site |
probably benign |
|
|
R4072:Srp72
|
UTSW |
5 |
77,146,098 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4073:Srp72
|
UTSW |
5 |
77,146,098 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4074:Srp72
|
UTSW |
5 |
77,146,098 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4638:Srp72
|
UTSW |
5 |
77,138,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4803:Srp72
|
UTSW |
5 |
77,132,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4864:Srp72
|
UTSW |
5 |
77,132,009 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5188:Srp72
|
UTSW |
5 |
77,122,598 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5217:Srp72
|
UTSW |
5 |
77,128,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Srp72
|
UTSW |
5 |
77,132,185 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5616:Srp72
|
UTSW |
5 |
77,135,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Srp72
|
UTSW |
5 |
77,135,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Srp72
|
UTSW |
5 |
77,142,070 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6986:Srp72
|
UTSW |
5 |
77,142,723 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7674:Srp72
|
UTSW |
5 |
77,122,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8729:Srp72
|
UTSW |
5 |
77,142,005 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9402:Srp72
|
UTSW |
5 |
77,124,329 (GRCm39) |
nonsense |
probably null |
|
|
R9533:Srp72
|
UTSW |
5 |
77,128,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Srp72
|
UTSW |
5 |
77,146,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATACCCAGTTCTCTACAGTGG -3'
(R):5'- TGTTATTTGCGATTACAGCGAG -3'
Sequencing Primer
(F):5'- GTGGCAATTCTCAAAACTGAGTCTC -3'
(R):5'- CGAGAAGTGCCACATCTGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation