Incidental Mutation 'R2363:Atmin'
ID |
247226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atmin
|
Ensembl Gene |
ENSMUSG00000047388 |
Gene Name |
ATM interactor |
Synonyms |
gpg6, Asciz |
MMRRC Submission |
040344-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2363 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 117681653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
AlphaFold |
Q6P9S1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000109099
|
SMART Domains |
Protein: ENSMUSP00000104727 Gene: ENSMUSG00000047388
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 |
|
Meta Mutation Damage Score |
0.9592 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
98% (51/52) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
C |
2: 103,397,528 (GRCm39) |
C153R |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,596,650 (GRCm39) |
|
probably null |
Het |
Adpgk |
G |
T |
9: 59,222,136 (GRCm39) |
M354I |
probably benign |
Het |
C1rl |
G |
A |
6: 124,486,069 (GRCm39) |
G480D |
probably benign |
Het |
C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
Cacnb1 |
G |
A |
11: 97,903,672 (GRCm39) |
T127I |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,210 (GRCm39) |
V1626E |
probably benign |
Het |
Cndp2 |
C |
T |
18: 84,686,694 (GRCm39) |
G443S |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,265,016 (GRCm39) |
I134T |
possibly damaging |
Het |
Dnaaf3 |
T |
C |
7: 4,535,276 (GRCm39) |
|
probably null |
Het |
Enam |
C |
T |
5: 88,651,008 (GRCm39) |
P764L |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fbln1 |
G |
A |
15: 85,111,341 (GRCm39) |
|
probably null |
Het |
Flnb |
A |
G |
14: 7,945,950 (GRCm38) |
I2452V |
possibly damaging |
Het |
Fmo3 |
A |
T |
1: 162,781,884 (GRCm39) |
W490R |
probably damaging |
Het |
Gabrb1 |
C |
T |
5: 72,026,916 (GRCm39) |
R106* |
probably null |
Het |
Galnt4 |
C |
T |
10: 98,944,923 (GRCm39) |
T216I |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Golph3 |
A |
G |
15: 12,349,649 (GRCm39) |
D223G |
probably benign |
Het |
Herc4 |
T |
A |
10: 63,151,473 (GRCm39) |
F905I |
possibly damaging |
Het |
Il23r |
T |
C |
6: 67,429,401 (GRCm39) |
T314A |
probably benign |
Het |
Lrrtm4 |
T |
C |
6: 79,998,857 (GRCm39) |
W90R |
probably damaging |
Het |
Maml2 |
C |
T |
9: 13,532,541 (GRCm39) |
T585I |
probably damaging |
Het |
Mpp3 |
G |
A |
11: 101,911,312 (GRCm39) |
A170V |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,452,928 (GRCm39) |
K44N |
possibly damaging |
Het |
Or10aa3 |
C |
T |
1: 173,878,814 (GRCm39) |
R292C |
probably damaging |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
Or4k51 |
C |
T |
2: 111,585,139 (GRCm39) |
P182S |
probably damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
Or6f2 |
A |
G |
7: 139,756,878 (GRCm39) |
T282A |
probably damaging |
Het |
Or7e165 |
T |
G |
9: 19,694,892 (GRCm39) |
I154M |
probably benign |
Het |
Or8c10 |
T |
C |
9: 38,279,394 (GRCm39) |
I174T |
probably damaging |
Het |
Pak1 |
T |
A |
7: 97,535,521 (GRCm39) |
V204E |
probably benign |
Het |
Pcdhb10 |
T |
A |
18: 37,547,190 (GRCm39) |
C755* |
probably null |
Het |
Pcdhb20 |
A |
G |
18: 37,638,725 (GRCm39) |
Y417C |
probably damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,355,341 (GRCm39) |
W723L |
probably benign |
Het |
Plin1 |
C |
T |
7: 79,376,139 (GRCm39) |
|
probably null |
Het |
Polr3a |
A |
T |
14: 24,525,960 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
T |
10: 58,314,758 (GRCm39) |
K1826I |
possibly damaging |
Het |
Rapgef1 |
A |
G |
2: 29,626,608 (GRCm39) |
I970V |
possibly damaging |
Het |
Rdx |
C |
A |
9: 51,980,173 (GRCm39) |
F255L |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,267,447 (GRCm39) |
H1011L |
possibly damaging |
Het |
Serpina6 |
T |
C |
12: 103,614,868 (GRCm39) |
D326G |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,123,966 (GRCm39) |
E909G |
probably benign |
Het |
Shprh |
T |
A |
10: 11,047,697 (GRCm39) |
V1015D |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,920 (GRCm39) |
Y629N |
probably damaging |
Het |
Triml1 |
A |
G |
8: 43,594,408 (GRCm39) |
S8P |
probably damaging |
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 |
IGL02680:Atmin
|
APN |
8 |
117,684,236 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGCAGCACTTTATGAAAATGC -3'
(R):5'- CACACTTGTTATCATTAGATCCAGCC -3'
Sequencing Primer
(F):5'- GCAGCACTTTATGAAAATGCATGCAG -3'
(R):5'- TAAAGCCACAGGTTCCTC -3'
|
Posted On |
2014-10-30 |