Incidental Mutation 'R2987:Gm5901'
| ID |
477441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5901
|
| Ensembl Gene |
ENSMUSG00000078611 |
| Gene Name |
predicted gene 5901 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105024245-105027584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105026507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 92
(I92V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000106805]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000211549]
[ENSMUST00000209233]
[ENSMUST00000210448]
[ENSMUST00000179474]
|
| AlphaFold |
D3YVJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048079
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
2.8e-99 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074686
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
4.4e-100 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
825 |
840 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106805
AA Change: I92V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102417
Gene: ENSMUSG00000078611
AA Change: I92V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4663
|
1 |
332 |
1.8e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
1.8e-99 |
PFAM |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
722 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122327
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
5.6e-98 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137158
|
| SMART Domains |
Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,133 (GRCm39) |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,666,513 (GRCm39) |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,837,306 (GRCm39) |
V150M |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,228,104 (GRCm39) |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,700 (GRCm39) |
H21Q |
probably benign |
Het |
|
| Other mutations in Gm5901 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Gm5901
|
APN |
7 |
105,026,722 (GRCm39) |
nonsense |
probably null |
|
|
IGL01668:Gm5901
|
APN |
7 |
105,026,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0033:Gm5901
|
UTSW |
7 |
105,026,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Gm5901
|
UTSW |
7 |
105,026,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Gm5901
|
UTSW |
7 |
105,026,697 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2393:Gm5901
|
UTSW |
7 |
105,026,996 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4665:Gm5901
|
UTSW |
7 |
105,026,438 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5103:Gm5901
|
UTSW |
7 |
105,026,589 (GRCm39) |
splice site |
probably null |
|
|
R5274:Gm5901
|
UTSW |
7 |
105,026,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5613:Gm5901
|
UTSW |
7 |
105,026,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Gm5901
|
UTSW |
7 |
105,026,367 (GRCm39) |
missense |
probably benign |
|
|
R7090:Gm5901
|
UTSW |
7 |
105,026,555 (GRCm39) |
missense |
probably benign |
|
|
R7128:Gm5901
|
UTSW |
7 |
105,027,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8280:Gm5901
|
UTSW |
7 |
105,027,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation