Incidental Mutation 'R8442:Gm572'
| ID |
654241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm572
|
| Ensembl Gene |
ENSMUSG00000070577 |
| Gene Name |
predicted gene 572 |
| Synonyms |
b2b1167Clo, LOC230909 |
| MMRRC Submission |
067779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148727774-148756029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 148743450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 140
(R140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105698]
|
| AlphaFold |
B1ARY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105698
AA Change: R140L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: R140L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
T |
C |
10: 128,104,891 (GRCm39) |
L15P |
probably damaging |
Het |
| BC048671 |
T |
C |
6: 90,282,095 (GRCm39) |
F84S |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C2cd4a |
C |
T |
9: 67,739,039 (GRCm39) |
M1I |
probably null |
Het |
| Cd72 |
T |
A |
4: 43,450,109 (GRCm39) |
K266N |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,542,781 (GRCm39) |
F2328S |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,318,855 (GRCm39) |
Y2948C |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,240,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
A |
G |
19: 10,248,883 (GRCm39) |
F24L |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,568,849 (GRCm39) |
T2860A |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,001 (GRCm39) |
K22N |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,512,983 (GRCm39) |
R1118Q |
probably damaging |
Het |
| Foxl1 |
T |
A |
8: 121,855,224 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,205,833 (GRCm39) |
R676G |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,560,504 (GRCm39) |
Y12C |
probably damaging |
Het |
| Igf2bp2 |
A |
C |
16: 21,883,841 (GRCm39) |
|
probably null |
Het |
| Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
| Il5 |
C |
T |
11: 53,612,651 (GRCm39) |
P54S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,125,318 (GRCm39) |
I245T |
possibly damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,140 (GRCm39) |
N381I |
possibly damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,500,908 (GRCm39) |
F679S |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,598,383 (GRCm39) |
F742L |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,349,020 (GRCm39) |
T1071A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,220 (GRCm39) |
T1374A |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,091 (GRCm39) |
I47N |
probably damaging |
Het |
| Or5p75-ps1 |
A |
C |
7: 108,107,851 (GRCm39) |
Q196P |
unknown |
Het |
| P3h2 |
A |
G |
16: 25,805,955 (GRCm39) |
I296T |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,646,841 (GRCm39) |
|
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,566,002 (GRCm39) |
G25C |
probably damaging |
Het |
| Ptprm |
C |
A |
17: 67,251,312 (GRCm39) |
A522S |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,231 (GRCm39) |
D512G |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,592,608 (GRCm39) |
T346A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,163,938 (GRCm39) |
S2P |
unknown |
Het |
| Sfrp5 |
A |
G |
19: 42,187,236 (GRCm39) |
V278A |
probably benign |
Het |
| Taar1 |
T |
A |
10: 23,796,522 (GRCm39) |
C73* |
probably null |
Het |
| Tek |
T |
A |
4: 94,715,922 (GRCm39) |
L448Q |
probably benign |
Het |
| Tmem132a |
A |
C |
19: 10,835,833 (GRCm39) |
L899R |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,711,845 (GRCm39) |
|
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,212,568 (GRCm39) |
S925P |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,958,657 (GRCm39) |
D786E |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,728 (GRCm39) |
T154A |
possibly damaging |
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 |
|
|
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 |
|
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'- CATTAATCATGCCCACTGCG -3'
(R):5'- AGAGAATGGTCCTATCCCGTG -3'
Sequencing Primer
(F):5'- TCATGCCCACTGCGAATAGAGG -3'
(R):5'- TGGGCTATGTCCCAAGGTTCAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation