Incidental Mutation 'R6942:Atmin'
ID |
540601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atmin
|
Ensembl Gene |
ENSMUSG00000047388 |
Gene Name |
ATM interactor |
Synonyms |
gpg6, Asciz |
MMRRC Submission |
045056-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6942 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 117683452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 371
(V371F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
AlphaFold |
Q6P9S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109099
AA Change: V371F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104727 Gene: ENSMUSG00000047388 AA Change: V371F
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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,330,024 (GRCm39) |
|
probably null |
Het |
Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,274,635 (GRCm39) |
T483I |
possibly damaging |
Het |
Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
Cyp11b2 |
G |
A |
15: 74,728,094 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
A |
T |
4: 96,001,101 (GRCm39) |
|
probably null |
Het |
Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
Dpp6 |
G |
A |
5: 27,674,457 (GRCm39) |
V140M |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,735,128 (GRCm39) |
|
probably null |
Het |
Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
Grin3b |
T |
A |
10: 79,811,953 (GRCm39) |
|
probably null |
Het |
Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
Ino80 |
A |
G |
2: 119,213,983 (GRCm39) |
F1196L |
probably damaging |
Het |
Iqsec3 |
C |
T |
6: 121,450,062 (GRCm39) |
C154Y |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,401,537 (GRCm39) |
D1048V |
possibly damaging |
Het |
Kif2c |
A |
G |
4: 117,023,575 (GRCm39) |
L379P |
probably damaging |
Het |
Kpna6 |
A |
T |
4: 129,545,514 (GRCm39) |
|
probably null |
Het |
Large2 |
C |
T |
2: 92,201,167 (GRCm39) |
R28H |
probably damaging |
Het |
Map4k2 |
T |
A |
19: 6,396,739 (GRCm39) |
W552R |
possibly damaging |
Het |
Mark3 |
A |
G |
12: 111,559,088 (GRCm39) |
I43M |
probably null |
Het |
Med13l |
C |
A |
5: 118,883,071 (GRCm39) |
|
probably null |
Het |
Mtbp |
T |
A |
15: 55,430,596 (GRCm39) |
Y218N |
probably damaging |
Het |
Or52n5 |
C |
T |
7: 104,588,104 (GRCm39) |
R124C |
possibly damaging |
Het |
Pcdhgb5 |
T |
C |
18: 37,865,696 (GRCm39) |
L497P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,025 (GRCm39) |
T1221A |
probably damaging |
Het |
Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
Semp2l2b |
A |
T |
10: 21,943,160 (GRCm39) |
D273E |
probably benign |
Het |
Serpinb9g |
A |
T |
13: 33,678,888 (GRCm39) |
T253S |
probably benign |
Het |
Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,074,194 (GRCm39) |
V1897A |
possibly damaging |
Het |
Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
Tmem70 |
T |
A |
1: 16,747,380 (GRCm39) |
Y166N |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,732,190 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,088,704 (GRCm39) |
|
probably null |
Het |
Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,653,139 (GRCm39) |
N815K |
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 |
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 |
|
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 |
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'- GCCTGTCTTTGTGCCTACAG -3'
(R):5'- ATCAAACGACAGGTCAGTCTGAG -3'
Sequencing Primer
(F):5'- TACAGCGGAGTCCTCGG -3'
(R):5'- TCAGTCTGAGAACACGATGAC -3'
|
Posted On |
2018-11-06 |