Incidental Mutation 'R3743:Atmin'
| ID |
270451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atmin
|
| Ensembl Gene |
ENSMUSG00000047388 |
| Gene Name |
ATM interactor |
| Synonyms |
gpg6, Asciz |
| MMRRC Submission |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117683312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
| AlphaFold |
Q6P9S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109099
AA Change: V324A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: V324A
| 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 |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
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 |
|
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 |
|
|
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'- AGATGCTGCTGAACCGGATG -3'
(R):5'- ACACAGGCTTTTACCCAAGTTC -3'
Sequencing Primer
(F):5'- CTGCAGCATCCCTCGAAG -3'
(R):5'- CACTTGAACACCTGTATTCATTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation