Incidental Mutation 'IGL01828:Gm45844'
ID |
154717 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm45844
|
Ensembl Gene |
ENSMUSG00000110105 |
Gene Name |
predicted gene 45844 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.645)
|
Stock # |
IGL01828
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
7216016-7281288 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 7234322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170922]
[ENSMUST00000173842]
[ENSMUST00000209325]
[ENSMUST00000209833]
[ENSMUST00000210333]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000170922
|
SMART Domains |
Protein: ENSMUSP00000131990 Gene: ENSMUSG00000095730
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
2e-34 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
1.4e-20 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
2e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173842
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209788
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209833
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211433
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,178,521 (GRCm39) |
I1151V |
probably benign |
Het |
Abcc4 |
C |
T |
14: 118,790,691 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,658,615 (GRCm39) |
|
probably benign |
Het |
Car4 |
C |
A |
11: 84,855,571 (GRCm39) |
Q198K |
probably benign |
Het |
Ces1a |
T |
C |
8: 93,751,829 (GRCm39) |
H435R |
probably damaging |
Het |
Chdh |
T |
A |
14: 29,758,565 (GRCm39) |
F503L |
probably damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dse |
T |
A |
10: 34,028,772 (GRCm39) |
T773S |
probably damaging |
Het |
Fbxw11 |
T |
A |
11: 32,670,505 (GRCm39) |
L123H |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,346,820 (GRCm39) |
D550G |
probably damaging |
Het |
Krcc1 |
T |
A |
6: 71,261,351 (GRCm39) |
Y128N |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,194,652 (GRCm39) |
M1621T |
possibly damaging |
Het |
Notch2 |
T |
A |
3: 97,979,929 (GRCm39) |
C148S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,316,972 (GRCm39) |
H616Q |
probably damaging |
Het |
Plec |
T |
C |
15: 76,067,955 (GRCm39) |
E1218G |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,356,896 (GRCm39) |
E749G |
probably benign |
Het |
Slco1a6 |
C |
T |
6: 142,042,137 (GRCm39) |
V480M |
probably damaging |
Het |
Vmn1r88 |
C |
T |
7: 12,911,662 (GRCm39) |
T6I |
probably damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,372,443 (GRCm39) |
F16L |
possibly damaging |
Het |
Ywhab |
G |
A |
2: 163,853,694 (GRCm39) |
R57H |
possibly damaging |
Het |
|
Other mutations in Gm45844 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02746:Gm45844
|
APN |
7 |
7,243,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R6041:Gm45844
|
UTSW |
7 |
7,281,183 (GRCm39) |
start gained |
probably benign |
|
R6249:Gm45844
|
UTSW |
7 |
7,243,092 (GRCm39) |
missense |
probably benign |
0.01 |
R7531:Gm45844
|
UTSW |
7 |
7,243,185 (GRCm39) |
missense |
probably benign |
0.02 |
R8283:Gm45844
|
UTSW |
7 |
7,244,901 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8355:Gm45844
|
UTSW |
7 |
7,281,221 (GRCm39) |
start gained |
probably benign |
|
R8455:Gm45844
|
UTSW |
7 |
7,281,221 (GRCm39) |
start gained |
probably benign |
|
R8928:Gm45844
|
UTSW |
7 |
7,281,094 (GRCm39) |
splice site |
probably benign |
|
|
Posted On |
2014-02-04 |