Incidental Mutation 'IGL01766:Gm572'
| ID |
153658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm572
|
| Ensembl Gene |
ENSMUSG00000070577 |
| Gene Name |
predicted gene 572 |
| Synonyms |
b2b1167Clo, LOC230909 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
148727774-148756029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148739352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 60
(H60L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105698]
|
| AlphaFold |
B1ARY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105698
AA Change: H60L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: H60L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:DUF4556
|
144 |
358 |
1.9e-117 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,557 (GRCm39) |
D310G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,977,482 (GRCm39) |
T7A |
unknown |
Het |
| Arhgap21 |
T |
A |
2: 20,854,448 (GRCm39) |
D1648V |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,362,810 (GRCm39) |
*291Q |
probably null |
Het |
| Ceacam1 |
G |
A |
7: 25,171,420 (GRCm39) |
S348L |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,145 (GRCm39) |
V37A |
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,106,660 (GRCm39) |
F200I |
probably damaging |
Het |
| Dock4 |
G |
T |
12: 40,496,378 (GRCm39) |
E8* |
probably null |
Het |
| Dsc2 |
G |
A |
18: 20,179,399 (GRCm39) |
P223L |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,719,587 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gen1 |
C |
T |
12: 11,306,895 (GRCm39) |
D92N |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,692,971 (GRCm39) |
T719A |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,936,447 (GRCm39) |
S1575G |
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,787,899 (GRCm39) |
E641G |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,084 (GRCm39) |
I769T |
possibly damaging |
Het |
| Map2k5 |
C |
T |
9: 63,284,509 (GRCm39) |
A11T |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,161 (GRCm39) |
E74G |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,384,283 (GRCm39) |
V666A |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,901 (GRCm39) |
N84I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,161,945 (GRCm39) |
L99S |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,649 (GRCm39) |
F166S |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,402 (GRCm39) |
E1077G |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,583,915 (GRCm39) |
W226R |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,801,553 (GRCm39) |
H1059R |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,774,365 (GRCm39) |
T306A |
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,169 (GRCm39) |
H190L |
probably damaging |
Het |
| Spag8 |
G |
T |
4: 43,653,209 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,437,007 (GRCm39) |
H20R |
possibly damaging |
Het |
| Znhit3 |
G |
T |
11: 84,806,959 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm572 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Gm572
|
APN |
4 |
148,751,849 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02670:Gm572
|
APN |
4 |
148,735,685 (GRCm39) |
missense |
probably benign |
|
|
IGL02716:Gm572
|
APN |
4 |
148,739,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT1430001:Gm572
|
UTSW |
4 |
148,755,850 (GRCm39) |
missense |
unknown |
|
|
R1346:Gm572
|
UTSW |
4 |
148,739,354 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1546:Gm572
|
UTSW |
4 |
148,751,276 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1564:Gm572
|
UTSW |
4 |
148,735,643 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1672:Gm572
|
UTSW |
4 |
148,752,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2516:Gm572
|
UTSW |
4 |
148,748,841 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3852:Gm572
|
UTSW |
4 |
148,753,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4366:Gm572
|
UTSW |
4 |
148,739,322 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4884:Gm572
|
UTSW |
4 |
148,751,819 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4888:Gm572
|
UTSW |
4 |
148,751,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5026:Gm572
|
UTSW |
4 |
148,739,301 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5121:Gm572
|
UTSW |
4 |
148,751,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5797:Gm572
|
UTSW |
4 |
148,751,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5988:Gm572
|
UTSW |
4 |
148,752,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6827:Gm572
|
UTSW |
4 |
148,742,543 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7709:Gm572
|
UTSW |
4 |
148,753,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8298:Gm572
|
UTSW |
4 |
148,742,550 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8442:Gm572
|
UTSW |
4 |
148,743,450 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8906:Gm572
|
UTSW |
4 |
148,751,290 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9066:Gm572
|
UTSW |
4 |
148,751,278 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9262:Gm572
|
UTSW |
4 |
148,735,652 (GRCm39) |
missense |
probably benign |
|
|
R9435:Gm572
|
UTSW |
4 |
148,752,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9488:Gm572
|
UTSW |
4 |
148,752,913 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
RF029:Gm572
|
UTSW |
4 |
148,755,850 (GRCm39) |
frame shift |
probably null |
|
|
RF030:Gm572
|
UTSW |
4 |
148,755,850 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation