Incidental Mutation 'IGL00556:Gm6370'
| ID |
332597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm6370
|
| Ensembl Gene |
ENSMUSG00000096527 |
| Gene Name |
predicted gene 6370 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL00556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146428173-146430942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146430723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 303
(T303A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110611]
[ENSMUST00000198912]
|
| AlphaFold |
A0A0G2JGX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110611
AA Change: T299A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106241
Gene: ENSMUSG00000096527
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
66 |
181 |
2.8e-4 |
SMART |
|
low complexity region
|
265 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198912
AA Change: T303A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000143740
Gene: ENSMUSG00000096527
AA Change: T303A
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
66 |
181 |
1.4e-6 |
SMART |
|
low complexity region
|
269 |
287 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,392,916 (GRCm39) |
I108V |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,963,476 (GRCm39) |
I723T |
probably damaging |
Het |
| Cct4 |
T |
A |
11: 22,947,656 (GRCm39) |
V233E |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,771,687 (GRCm39) |
Y37H |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,563,338 (GRCm39) |
R863Q |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,626,377 (GRCm39) |
D225G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,364,549 (GRCm39) |
D232E |
possibly damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,700,120 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,982,337 (GRCm39) |
N516K |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,046,510 (GRCm39) |
|
probably benign |
Het |
| Med4 |
T |
C |
14: 73,754,707 (GRCm39) |
M190T |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,782,742 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,081,961 (GRCm39) |
R1722G |
probably benign |
Het |
| Obp2b |
A |
T |
2: 25,628,593 (GRCm39) |
I116F |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,320,070 (GRCm39) |
|
probably null |
Het |
| Siglecg |
A |
T |
7: 43,061,219 (GRCm39) |
I431F |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,344 (GRCm39) |
V504D |
possibly damaging |
Het |
| Tlr7 |
A |
C |
X: 166,091,471 (GRCm39) |
M5R |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,985,165 (GRCm39) |
V1641A |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,055 (GRCm39) |
L101F |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,191,430 (GRCm39) |
*1336R |
probably null |
Het |
|
| Other mutations in Gm6370 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Gm6370
|
APN |
5 |
146,430,453 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
joie
|
UTSW |
5 |
146,430,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
vivre
|
UTSW |
5 |
146,430,638 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0331:Gm6370
|
UTSW |
5 |
146,430,576 (GRCm39) |
missense |
probably benign |
|
|
R2151:Gm6370
|
UTSW |
5 |
146,430,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Gm6370
|
UTSW |
5 |
146,430,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2203:Gm6370
|
UTSW |
5 |
146,430,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2204:Gm6370
|
UTSW |
5 |
146,430,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2205:Gm6370
|
UTSW |
5 |
146,430,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4110:Gm6370
|
UTSW |
5 |
146,430,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4210:Gm6370
|
UTSW |
5 |
146,430,734 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4855:Gm6370
|
UTSW |
5 |
146,430,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Gm6370
|
UTSW |
5 |
146,430,736 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5622:Gm6370
|
UTSW |
5 |
146,430,708 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6986:Gm6370
|
UTSW |
5 |
146,430,398 (GRCm39) |
splice site |
probably null |
|
|
R7216:Gm6370
|
UTSW |
5 |
146,430,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7519:Gm6370
|
UTSW |
5 |
146,430,638 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8556:Gm6370
|
UTSW |
5 |
146,430,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8719:Gm6370
|
UTSW |
5 |
146,430,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8897:Gm6370
|
UTSW |
5 |
146,430,447 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9562:Gm6370
|
UTSW |
5 |
146,429,281 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Gm6370
|
UTSW |
5 |
146,429,993 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2015-08-05 |
Incidental Mutation