Incidental Mutation 'R2968:Grep1'
ID |
477778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grep1
|
Ensembl Gene |
ENSMUSG00000043747 |
Gene Name |
glycine rich extracellular protein 1 |
Synonyms |
1520401A03Rik |
MMRRC Submission |
040524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R2968 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23923462-23941757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23934785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 149
(F149S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178006]
[ENSMUST00000201734]
|
AlphaFold |
A0A0J9YVH6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000062827
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176095
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178006
AA Change: F80S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144253 Gene: ENSMUSG00000043747 AA Change: F80S
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
18 |
47 |
N/A |
INTRINSIC |
internal_repeat_1
|
49 |
75 |
7.63e-5 |
PROSPERO |
low complexity region
|
82 |
99 |
N/A |
INTRINSIC |
internal_repeat_1
|
101 |
132 |
7.63e-5 |
PROSPERO |
low complexity region
|
133 |
164 |
N/A |
INTRINSIC |
low complexity region
|
174 |
196 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201734
AA Change: F149S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144664 Gene: ENSMUSG00000043747 AA Change: F149S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
61 |
69 |
N/A |
INTRINSIC |
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
low complexity region
|
87 |
116 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
149 |
3.72e-8 |
PROSPERO |
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
low complexity region
|
202 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
258 |
N/A |
INTRINSIC |
internal_repeat_1
|
268 |
310 |
3.72e-8 |
PROSPERO |
low complexity region
|
518 |
528 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,911,485 (GRCm39) |
I1113N |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,709,390 (GRCm39) |
C1412F |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
Cntln |
T |
A |
4: 84,875,504 (GRCm39) |
S313T |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,756,694 (GRCm39) |
D134E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,699,881 (GRCm39) |
D244G |
possibly damaging |
Het |
Dsg3 |
A |
T |
18: 20,658,282 (GRCm39) |
T298S |
possibly damaging |
Het |
Dusp1 |
A |
T |
17: 26,726,679 (GRCm39) |
F128I |
probably damaging |
Het |
Fam83g |
T |
A |
11: 61,594,304 (GRCm39) |
S613T |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,590 (GRCm39) |
S572P |
probably damaging |
Het |
Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
Spink11 |
A |
T |
18: 44,328,777 (GRCm39) |
F24I |
possibly damaging |
Het |
Tes |
A |
G |
6: 17,096,233 (GRCm39) |
T74A |
probably benign |
Het |
Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
Wdr75 |
A |
G |
1: 45,856,501 (GRCm39) |
D508G |
probably damaging |
Het |
|
Other mutations in Grep1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0332:Grep1
|
UTSW |
17 |
23,933,578 (GRCm39) |
splice site |
probably benign |
|
R1165:Grep1
|
UTSW |
17 |
23,929,489 (GRCm39) |
splice site |
probably benign |
|
R1539:Grep1
|
UTSW |
17 |
23,936,118 (GRCm39) |
splice site |
probably benign |
|
R5459:Grep1
|
UTSW |
17 |
23,930,817 (GRCm39) |
intron |
probably benign |
|
R5800:Grep1
|
UTSW |
17 |
23,936,966 (GRCm39) |
missense |
probably damaging |
0.96 |
R5967:Grep1
|
UTSW |
17 |
23,931,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Grep1
|
UTSW |
17 |
23,929,465 (GRCm39) |
nonsense |
probably null |
|
R6306:Grep1
|
UTSW |
17 |
23,925,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6892:Grep1
|
UTSW |
17 |
23,931,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R7126:Grep1
|
UTSW |
17 |
23,939,538 (GRCm39) |
missense |
probably benign |
0.23 |
R7264:Grep1
|
UTSW |
17 |
23,931,308 (GRCm39) |
missense |
not run |
|
R7563:Grep1
|
UTSW |
17 |
23,936,302 (GRCm39) |
missense |
probably benign |
0.27 |
R9058:Grep1
|
UTSW |
17 |
23,935,016 (GRCm39) |
missense |
probably benign |
0.05 |
R9323:Grep1
|
UTSW |
17 |
23,937,387 (GRCm39) |
missense |
unknown |
|
R9451:Grep1
|
UTSW |
17 |
23,936,187 (GRCm39) |
missense |
unknown |
|
Z1176:Grep1
|
UTSW |
17 |
23,934,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |