Incidental Mutation 'IGL02648:Gm10549'
ID |
302034 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10549
|
Ensembl Gene |
ENSMUSG00000073610 |
Gene Name |
predicted gene 10549 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02648
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
33597216-33607763 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 33597303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051087]
[ENSMUST00000097634]
[ENSMUST00000168890]
[ENSMUST00000171533]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051087
|
SMART Domains |
Protein: ENSMUSP00000058132 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000097634
AA Change: Q30K
|
SMART Domains |
Protein: ENSMUSP00000095236 Gene: ENSMUSG00000073610 AA Change: Q30K
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168890
|
SMART Domains |
Protein: ENSMUSP00000130297 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171533
|
SMART Domains |
Protein: ENSMUSP00000127787 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,344,392 (GRCm39) |
|
probably null |
Het |
Acp4 |
A |
G |
7: 43,904,414 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,659,738 (GRCm39) |
M1997K |
probably benign |
Het |
Arhgdib |
T |
C |
6: 136,910,647 (GRCm39) |
D38G |
probably damaging |
Het |
Bbox1 |
T |
G |
2: 110,135,871 (GRCm39) |
D36A |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,734,457 (GRCm39) |
K104R |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,182,839 (GRCm39) |
C75Y |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,517,528 (GRCm39) |
L70S |
probably damaging |
Het |
Ccdc88a |
T |
G |
11: 29,451,051 (GRCm39) |
V1580G |
probably benign |
Het |
Cdadc1 |
C |
A |
14: 59,823,812 (GRCm39) |
D227Y |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,242,976 (GRCm39) |
Y1415C |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,428,489 (GRCm39) |
N493S |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,758,683 (GRCm39) |
V678M |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,706,211 (GRCm39) |
R497* |
probably null |
Het |
Itgad |
T |
C |
7: 127,782,546 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
C |
A |
2: 109,842,718 (GRCm39) |
T877K |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,802,463 (GRCm39) |
D40G |
probably benign |
Het |
Myo3b |
T |
C |
2: 69,935,716 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,161,093 (GRCm39) |
Y2193H |
possibly damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,697 (GRCm39) |
I218F |
possibly damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,312 (GRCm39) |
M143V |
probably benign |
Het |
Pard6b |
A |
G |
2: 167,940,847 (GRCm39) |
Q278R |
probably benign |
Het |
Pate10 |
A |
T |
9: 35,652,405 (GRCm39) |
M21L |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,143,975 (GRCm39) |
Y366C |
possibly damaging |
Het |
Prl2c1 |
A |
G |
13: 28,041,542 (GRCm39) |
D188G |
probably benign |
Het |
Prl3a1 |
G |
T |
13: 27,454,218 (GRCm39) |
M65I |
probably benign |
Het |
Psg26 |
T |
A |
7: 18,216,691 (GRCm39) |
E49D |
probably benign |
Het |
Rapgef3 |
G |
A |
15: 97,656,273 (GRCm39) |
R38W |
probably damaging |
Het |
Rrn3 |
T |
C |
16: 13,629,453 (GRCm39) |
F590L |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,267 (GRCm39) |
K122E |
probably benign |
Het |
Slc39a6 |
T |
C |
18: 24,715,424 (GRCm39) |
I699V |
probably damaging |
Het |
Tmem259 |
G |
A |
10: 79,813,651 (GRCm39) |
P443S |
probably damaging |
Het |
Vmn1r75 |
T |
A |
7: 11,615,091 (GRCm39) |
F274L |
probably benign |
Het |
|
Other mutations in Gm10549 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0374:Gm10549
|
UTSW |
18 |
33,597,235 (GRCm39) |
unclassified |
probably benign |
|
R0668:Gm10549
|
UTSW |
18 |
33,603,903 (GRCm39) |
missense |
unknown |
|
R1806:Gm10549
|
UTSW |
18 |
33,603,841 (GRCm39) |
missense |
unknown |
|
R4214:Gm10549
|
UTSW |
18 |
33,597,530 (GRCm39) |
splice site |
probably null |
|
R4826:Gm10549
|
UTSW |
18 |
33,603,838 (GRCm39) |
missense |
unknown |
|
R5747:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5748:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5766:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5796:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6101:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6129:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6130:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6218:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6219:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6220:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6283:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6298:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6299:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6309:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6321:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6322:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6327:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6337:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6405:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6420:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6492:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6494:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6505:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R7173:Gm10549
|
UTSW |
18 |
33,597,462 (GRCm39) |
missense |
unknown |
|
R7724:Gm10549
|
UTSW |
18 |
33,603,912 (GRCm39) |
nonsense |
probably null |
|
R7829:Gm10549
|
UTSW |
18 |
33,597,463 (GRCm39) |
unclassified |
probably benign |
|
R9356:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9358:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9359:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9584:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |