Incidental Mutation 'R5797:Gm572'
| ID |
447266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm572
|
| Ensembl Gene |
ENSMUSG00000070577 |
| Gene Name |
predicted gene 572 |
| Synonyms |
b2b1167Clo, LOC230909 |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148727774-148756029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148751255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 209
(M209I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105698]
|
| AlphaFold |
B1ARY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105698
AA Change: M209I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: M209I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:DUF4556
|
144 |
358 |
1.9e-117 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
C |
3: 40,887,986 (GRCm39) |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,462,505 (GRCm39) |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,317,905 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,412,074 (GRCm39) |
Y65C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,191,844 (GRCm39) |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,438 (GRCm39) |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,206 (GRCm39) |
W52R |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,404 (GRCm39) |
E276D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,927,888 (GRCm39) |
N78S |
probably damaging |
Het |
| Dmap1 |
A |
T |
4: 117,532,677 (GRCm39) |
V333E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,898,450 (GRCm39) |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,808,478 (GRCm39) |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 125,849,254 (GRCm39) |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,086,463 (GRCm39) |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,318,503 (GRCm39) |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,170 (GRCm39) |
R401G |
probably damaging |
Het |
| Gne |
G |
A |
4: 44,060,030 (GRCm39) |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,305 (GRCm39) |
N160D |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,032,619 (GRCm39) |
Y1125C |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,111,884 (GRCm39) |
C524S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,759 (GRCm39) |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,410,004 (GRCm39) |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,319 (GRCm39) |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,225,828 (GRCm39) |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,834,592 (GRCm39) |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,307,838 (GRCm39) |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,228,590 (GRCm39) |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,615 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,555,698 (GRCm39) |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,203,950 (GRCm39) |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,482,476 (GRCm39) |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,746,829 (GRCm39) |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,955,962 (GRCm39) |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,031,276 (GRCm39) |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,569 (GRCm39) |
K30* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,233,736 (GRCm39) |
C825* |
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTATCCTCCAAGTACCCATG -3'
(R):5'- CGGTGCACTTTACGCTAATG -3'
Sequencing Primer
(F):5'- ATGTTCCTTGGCCCAGAGTGAC -3'
(R):5'- TGGAGCCCAATTTTCGAAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation