Incidental Mutation 'R6824:Gps1'
| ID |
534066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gps1
|
| Ensembl Gene |
ENSMUSG00000025156 |
| Gene Name |
G protein pathway suppressor 1 |
| Synonyms |
Csn1, COPS1 |
| MMRRC Submission |
044936-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120675098-120679928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120678254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 265
(F265S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026151]
[ENSMUST00000026156]
[ENSMUST00000100134]
[ENSMUST00000106133]
[ENSMUST00000106135]
[ENSMUST00000116305]
[ENSMUST00000153678]
[ENSMUST00000172809]
[ENSMUST00000167023]
[ENSMUST00000208737]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026151
|
| SMART Domains |
Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
5.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026156
|
| SMART Domains |
Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
54 |
306 |
1.1e-116 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100134
AA Change: F266S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
AA Change: F266S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
4.9e-78 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106133
|
| SMART Domains |
Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
8.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106135
|
| SMART Domains |
Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
8.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116305
AA Change: F266S
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
AA Change: F266S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
1.3e-77 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153678
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172809
AA Change: F305S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
AA Change: F305S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
Pfam:RPN7
|
162 |
344 |
8.8e-77 |
PFAM |
|
PINT
|
395 |
478 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167023
|
| SMART Domains |
Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
322 |
1.6e-75 |
PFAM |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208737
AA Change: F265S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
A |
G |
6: 39,552,058 (GRCm39) |
D275G |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,510 (GRCm39) |
K1051E |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,249,938 (GRCm39) |
M16L |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,716,962 (GRCm39) |
T285A |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,036 (GRCm39) |
M213L |
probably benign |
Het |
| Ctif |
C |
T |
18: 75,654,782 (GRCm39) |
R248Q |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,672,265 (GRCm39) |
I60T |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,256,328 (GRCm39) |
I310T |
possibly damaging |
Het |
| Defb6 |
T |
C |
8: 19,278,099 (GRCm39) |
I57T |
probably benign |
Het |
| Dnajc27 |
T |
C |
12: 4,156,897 (GRCm39) |
V262A |
possibly damaging |
Het |
| Emsy |
G |
A |
7: 98,242,614 (GRCm39) |
T1175M |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,011,674 (GRCm39) |
V2258E |
probably benign |
Het |
| Gm136 |
G |
A |
4: 34,746,591 (GRCm39) |
T140I |
probably benign |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,804,081 (GRCm39) |
V560A |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,701 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,906,875 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lad1 |
A |
G |
1: 135,755,479 (GRCm39) |
T252A |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,608,513 (GRCm39) |
S743N |
possibly damaging |
Het |
| Mrpl9 |
C |
A |
3: 94,350,677 (GRCm39) |
P7H |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,021,019 (GRCm39) |
H470L |
probably benign |
Het |
| Nicol1 |
T |
C |
5: 34,141,069 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,042,542 (GRCm39) |
I56T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,900,622 (GRCm39) |
Y338C |
probably damaging |
Het |
| Or13n4 |
A |
G |
7: 106,423,664 (GRCm39) |
V23A |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,752 (GRCm39) |
M426K |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,473,485 (GRCm39) |
T104A |
possibly damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,130 (GRCm39) |
T1407S |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,814,038 (GRCm39) |
R369Q |
possibly damaging |
Het |
| Rnf180 |
T |
A |
13: 105,318,023 (GRCm39) |
D463V |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,882,600 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,760 (GRCm39) |
D488G |
probably benign |
Het |
| Slc9a9 |
C |
T |
9: 95,109,251 (GRCm39) |
P538S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,240,370 (GRCm39) |
K159E |
probably benign |
Het |
| Spaca1 |
A |
G |
4: 34,049,869 (GRCm39) |
V43A |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,537,363 (GRCm39) |
S191P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,414,245 (GRCm39) |
H73R |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,995,844 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,449 (GRCm39) |
Y793C |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,475,578 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
G |
T |
7: 41,949,403 (GRCm39) |
V608L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,850,860 (GRCm39) |
I348N |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
|
| Other mutations in Gps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Gps1
|
APN |
11 |
120,679,086 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02803:Gps1
|
APN |
11 |
120,677,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Gps1
|
UTSW |
11 |
120,676,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2366:Gps1
|
UTSW |
11 |
120,678,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Gps1
|
UTSW |
11 |
120,677,259 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4631:Gps1
|
UTSW |
11 |
120,679,065 (GRCm39) |
splice site |
probably null |
|
|
R5701:Gps1
|
UTSW |
11 |
120,676,008 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6415:Gps1
|
UTSW |
11 |
120,678,548 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7557:Gps1
|
UTSW |
11 |
120,677,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7936:Gps1
|
UTSW |
11 |
120,677,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9608:Gps1
|
UTSW |
11 |
120,677,641 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9624:Gps1
|
UTSW |
11 |
120,677,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTGTAGGCCTAACTTGG -3'
(R):5'- AAGTTGGGGCCTACTCTACC -3'
Sequencing Primer
(F):5'- CAGTTAGATTTCTGTCCCTAAACTGG -3'
(R):5'- CTTTCCCACTACCCATAAAGACGATG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation