Incidental Mutation 'R2306:Atmin'
| ID |
244595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atmin
|
| Ensembl Gene |
ENSMUSG00000047388 |
| Gene Name |
ATM interactor |
| Synonyms |
gpg6, Asciz |
| MMRRC Submission |
040305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2306 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117684389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 683
(F683S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
| AlphaFold |
Q6P9S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109099
AA Change: F683S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: F683S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
G |
A |
17: 43,024,010 (GRCm39) |
H154Y |
possibly damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,862,680 (GRCm39) |
Y501* |
probably null |
Het |
| Bcat1 |
A |
G |
6: 144,953,379 (GRCm39) |
V403A |
probably damaging |
Het |
| C4b |
T |
G |
17: 34,947,492 (GRCm39) |
M1729L |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,159,224 (GRCm39) |
S2185P |
probably damaging |
Het |
| Crispld2 |
T |
G |
8: 120,752,810 (GRCm39) |
V286G |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,010 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
T |
C |
4: 41,625,239 (GRCm39) |
V401A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Ifitm2 |
T |
A |
7: 140,535,702 (GRCm39) |
T43S |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,633,058 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,207,673 (GRCm39) |
I40V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,432,023 (GRCm39) |
F30C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,633,609 (GRCm39) |
V251D |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,333,057 (GRCm39) |
Y96F |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,811,327 (GRCm39) |
E187G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,684,520 (GRCm39) |
D1183V |
probably damaging |
Het |
| Reln |
T |
G |
5: 22,101,784 (GRCm39) |
D3382A |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,567,243 (GRCm39) |
L271P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,948,455 (GRCm39) |
A600V |
probably benign |
Het |
| Sfr1 |
T |
C |
19: 47,723,291 (GRCm39) |
I265T |
probably damaging |
Het |
| Syt13 |
G |
A |
2: 92,771,312 (GRCm39) |
R133H |
probably benign |
Het |
| Tmem231 |
A |
T |
8: 112,645,503 (GRCm39) |
V132D |
probably damaging |
Het |
| Tmem247 |
C |
A |
17: 87,225,869 (GRCm39) |
A103E |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,263,534 (GRCm39) |
Y223* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,473 (GRCm39) |
F37L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,895,275 (GRCm39) |
Y3627N |
probably damaging |
Het |
| Zfp292 |
C |
A |
4: 34,809,468 (GRCm39) |
S1192I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCTTGTCCGACACCAAC -3'
(R):5'- AGGCTCCTTCAGTTTGGGTCTC -3'
Sequencing Primer
(F):5'- TGGCTCAGCGCAGAATTCTG -3'
(R):5'- CTGTGTCAGAGGAGTCGGTACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation