Incidental Mutation 'R2866:Atmin'
| ID |
253260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atmin
|
| Ensembl Gene |
ENSMUSG00000047388 |
| Gene Name |
ATM interactor |
| Synonyms |
gpg6, Asciz |
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117683112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 257
(D257E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
| AlphaFold |
Q6P9S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109099
AA Change: D257E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: D257E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
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 |
|
|
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'- TCACTCTAGCTCCAAGGGTAC -3'
(R):5'- CTGTAGGCACAAAGACAGGC -3'
Sequencing Primer
(F):5'- GGTACCCATTTCAGCCCG -3'
(R):5'- CACGGGGGAAAACTGCATGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation