Incidental Mutation 'IGL02670:Gm572'
| ID |
302901 |
| 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: 0.081)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
148727774-148756029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148735685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 38
(H38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105698]
|
| AlphaFold |
B1ARY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105698
AA Change: H38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: H38L
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
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 |
|
IGL01766:Gm572
|
APN |
4 |
148,739,352 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
2015-04-16 |
Incidental Mutation