Incidental Mutation 'R4249:Atl3'
| ID |
320554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atl3
|
| Ensembl Gene |
ENSMUSG00000024759 |
| Gene Name |
atlastin GTPase 3 |
| Synonyms |
5730596K20Rik, 4633402C03Rik |
| MMRRC Submission |
041065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7471178-7515974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7509703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 477
(V477A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025668]
[ENSMUST00000170373]
|
| AlphaFold |
Q91YH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025668
AA Change: V477A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: V477A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
36 |
310 |
7.2e-99 |
PFAM |
|
Pfam:GBP_C
|
312 |
438 |
1.7e-9 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170373
AA Change: V472A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: V472A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
31 |
305 |
9.1e-98 |
PFAM |
|
Pfam:GBP_C
|
307 |
433 |
7.4e-10 |
PFAM |
|
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ankrd39 |
A |
G |
1: 36,586,236 (GRCm39) |
S11P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,338,978 (GRCm39) |
S324G |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,447,525 (GRCm39) |
T151A |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,365,296 (GRCm39) |
T718A |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,283,462 (GRCm39) |
R843C |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,430,341 (GRCm39) |
D316E |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,175,127 (GRCm39) |
V1862A |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,472 (GRCm39) |
N233K |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,831 (GRCm39) |
F75L |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gimd1 |
T |
C |
3: 132,350,169 (GRCm39) |
V144A |
possibly damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,768,176 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,637 (GRCm39) |
D459N |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,576,200 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,399,135 (GRCm39) |
V999E |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,376 (GRCm39) |
L460P |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,715 (GRCm39) |
M206T |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,552 (GRCm39) |
N213K |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,326,745 (GRCm39) |
I591T |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,765 (GRCm39) |
E860G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,959 (GRCm39) |
T793A |
probably benign |
Het |
| Ropn1 |
C |
T |
16: 34,498,826 (GRCm39) |
Q205* |
probably null |
Het |
| Sacs |
A |
C |
14: 61,440,906 (GRCm39) |
K984T |
probably benign |
Het |
| Samd11 |
G |
A |
4: 156,334,943 (GRCm39) |
R102C |
probably damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,969,160 (GRCm39) |
H352N |
unknown |
Het |
| Slc22a27 |
A |
T |
19: 7,903,244 (GRCm39) |
I162K |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,536,104 (GRCm39) |
V2027E |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,326,994 (GRCm39) |
I594M |
probably benign |
Het |
| Trim5 |
C |
G |
7: 103,926,022 (GRCm39) |
E180Q |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
T |
2: 174,297,526 (GRCm39) |
E45V |
probably null |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,722 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,000 (GRCm39) |
F183L |
probably benign |
Het |
|
| Other mutations in Atl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02667:Atl3
|
APN |
19 |
7,486,781 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0042:Atl3
|
UTSW |
19 |
7,506,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Atl3
|
UTSW |
19 |
7,507,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0975:Atl3
|
UTSW |
19 |
7,498,500 (GRCm39) |
nonsense |
probably null |
|
|
R1582:Atl3
|
UTSW |
19 |
7,494,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Atl3
|
UTSW |
19 |
7,495,911 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4505:Atl3
|
UTSW |
19 |
7,498,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4836:Atl3
|
UTSW |
19 |
7,486,910 (GRCm39) |
nonsense |
probably null |
|
|
R5649:Atl3
|
UTSW |
19 |
7,509,592 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5721:Atl3
|
UTSW |
19 |
7,506,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6459:Atl3
|
UTSW |
19 |
7,498,163 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6530:Atl3
|
UTSW |
19 |
7,499,499 (GRCm39) |
missense |
probably benign |
|
|
R6543:Atl3
|
UTSW |
19 |
7,487,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Atl3
|
UTSW |
19 |
7,499,503 (GRCm39) |
missense |
probably benign |
|
|
R7059:Atl3
|
UTSW |
19 |
7,511,334 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7059:Atl3
|
UTSW |
19 |
7,511,333 (GRCm39) |
missense |
probably benign |
|
|
R7220:Atl3
|
UTSW |
19 |
7,506,433 (GRCm39) |
missense |
probably null |
0.02 |
|
R7666:Atl3
|
UTSW |
19 |
7,487,405 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9143:Atl3
|
UTSW |
19 |
7,509,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9206:Atl3
|
UTSW |
19 |
7,487,447 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9208:Atl3
|
UTSW |
19 |
7,487,447 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9631:Atl3
|
UTSW |
19 |
7,509,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9709:Atl3
|
UTSW |
19 |
7,507,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9733:Atl3
|
UTSW |
19 |
7,509,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0020:Atl3
|
UTSW |
19 |
7,507,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Atl3
|
UTSW |
19 |
7,487,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atl3
|
UTSW |
19 |
7,507,918 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCTTCCGTTACCAGCAG -3'
(R):5'- CCATCACAAAGTGGGCTCAC -3'
Sequencing Primer
(F):5'- CTGGAGGAGGAAATCAAAGAACTG -3'
(R):5'- TCAAATCTTACTTCAGAAGCACATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation