Incidental Mutation 'IGL02680:Atmin'
ID |
303330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atmin
|
Ensembl Gene |
ENSMUSG00000047388 |
Gene Name |
ATM interactor |
Synonyms |
gpg6, Asciz |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02680
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 117684236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 632
(D632V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
AlphaFold |
Q6P9S1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109099
AA Change: D632V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104727 Gene: ENSMUSG00000047388 AA Change: D632V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
34 |
N/A |
INTRINSIC |
low complexity region
|
46 |
62 |
N/A |
INTRINSIC |
ZnF_C2H2
|
80 |
105 |
2.49e-1 |
SMART |
ZnF_C2H2
|
127 |
156 |
7.11e0 |
SMART |
ZnF_C2H2
|
161 |
181 |
4.5e1 |
SMART |
ZnF_C2H2
|
187 |
210 |
1.06e2 |
SMART |
low complexity region
|
289 |
304 |
N/A |
INTRINSIC |
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
low complexity region
|
722 |
738 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
Het |
|
Other mutations in Atmin |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00639:Atmin
|
APN |
8 |
117,683,396 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Atmin
|
APN |
8 |
117,684,164 (GRCm39) |
nonsense |
probably null |
|
K3955:Atmin
|
UTSW |
8 |
117,683,775 (GRCm39) |
nonsense |
probably null |
|
P0038:Atmin
|
UTSW |
8 |
117,683,775 (GRCm39) |
nonsense |
probably null |
|
R1440:Atmin
|
UTSW |
8 |
117,684,115 (GRCm39) |
missense |
probably damaging |
0.98 |
R1498:Atmin
|
UTSW |
8 |
117,681,540 (GRCm39) |
missense |
probably benign |
0.21 |
R1515:Atmin
|
UTSW |
8 |
117,681,579 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2094:Atmin
|
UTSW |
8 |
117,684,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2306:Atmin
|
UTSW |
8 |
117,684,389 (GRCm39) |
missense |
probably benign |
0.04 |
R2363:Atmin
|
UTSW |
8 |
117,681,653 (GRCm39) |
critical splice donor site |
probably null |
|
R2866:Atmin
|
UTSW |
8 |
117,683,112 (GRCm39) |
missense |
probably benign |
|
R3743:Atmin
|
UTSW |
8 |
117,683,312 (GRCm39) |
missense |
probably benign |
0.02 |
R3901:Atmin
|
UTSW |
8 |
117,683,036 (GRCm39) |
missense |
probably benign |
0.00 |
R3902:Atmin
|
UTSW |
8 |
117,683,036 (GRCm39) |
missense |
probably benign |
0.00 |
R4664:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R5441:Atmin
|
UTSW |
8 |
117,684,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R5496:Atmin
|
UTSW |
8 |
117,683,911 (GRCm39) |
missense |
probably benign |
0.01 |
R6914:Atmin
|
UTSW |
8 |
117,683,452 (GRCm39) |
missense |
probably benign |
0.02 |
R6942:Atmin
|
UTSW |
8 |
117,683,452 (GRCm39) |
missense |
probably benign |
0.02 |
R6965:Atmin
|
UTSW |
8 |
117,683,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Atmin
|
UTSW |
8 |
117,683,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Atmin
|
UTSW |
8 |
117,683,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7647:Atmin
|
UTSW |
8 |
117,684,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8068:Atmin
|
UTSW |
8 |
117,683,389 (GRCm39) |
missense |
probably benign |
0.00 |
R8726:Atmin
|
UTSW |
8 |
117,681,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8734:Atmin
|
UTSW |
8 |
117,681,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8991:Atmin
|
UTSW |
8 |
117,679,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R9284:Atmin
|
UTSW |
8 |
117,684,019 (GRCm39) |
missense |
probably benign |
0.32 |
R9429:Atmin
|
UTSW |
8 |
117,670,307 (GRCm39) |
missense |
probably benign |
0.02 |
R9478:Atmin
|
UTSW |
8 |
117,681,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R9535:Atmin
|
UTSW |
8 |
117,683,327 (GRCm39) |
missense |
probably damaging |
0.96 |
R9720:Atmin
|
UTSW |
8 |
117,681,653 (GRCm39) |
critical splice donor site |
probably null |
|
V7732:Atmin
|
UTSW |
8 |
117,683,218 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Atmin
|
UTSW |
8 |
117,679,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |