Incidental Mutation 'IGL02813:Tor4a'
| ID |
360666 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tor4a
|
| Ensembl Gene |
ENSMUSG00000059555 |
| Gene Name |
torsin family 4, member A |
| Synonyms |
A830007P12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL02813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25082978-25086898 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 25084761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 381
(E381*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059849]
[ENSMUST00000081869]
[ENSMUST00000137920]
[ENSMUST00000142857]
|
| AlphaFold |
Q8BH02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059849
|
| SMART Domains |
Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COBRA1
|
107 |
578 |
3.5e-248 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000081869
AA Change: E381*
|
| SMART Domains |
Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: E381*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
93 |
N/A |
INTRINSIC |
|
AAA
|
181 |
317 |
3.74e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142857
|
| SMART Domains |
Protein: ENSMUSP00000142048
Gene: ENSMUSG00000059555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Torsin
|
1 |
86 |
4.2e-9 |
PFAM |
|
Pfam:AAA_22
|
12 |
112 |
6.7e-8 |
PFAM |
|
Pfam:AAA_17
|
18 |
111 |
2.4e-7 |
PFAM |
|
Pfam:AAA
|
19 |
110 |
3.1e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205741
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
A |
11: 7,096,591 (GRCm39) |
Q660K |
possibly damaging |
Het |
| Arhgap5 |
A |
C |
12: 52,563,748 (GRCm39) |
T240P |
probably benign |
Het |
| Arhgef7 |
C |
T |
8: 11,850,767 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
A |
6: 18,367,537 (GRCm39) |
V1594F |
possibly damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,635,859 (GRCm39) |
Q235K |
probably benign |
Het |
| Dennd11 |
C |
T |
6: 40,395,473 (GRCm39) |
V212I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,769 (GRCm39) |
N64S |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,644,098 (GRCm39) |
P169S |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Ern1 |
T |
C |
11: 106,314,251 (GRCm39) |
D183G |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,276,375 (GRCm39) |
V635A |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,410 (GRCm39) |
N564S |
probably damaging |
Het |
| Grtp1 |
A |
C |
8: 13,236,945 (GRCm39) |
I173S |
possibly damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,261,415 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,569,229 (GRCm39) |
|
probably null |
Het |
| Mark4 |
A |
T |
7: 19,181,181 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,691 (GRCm39) |
D207G |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,251 (GRCm39) |
M41V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,743 (GRCm39) |
*66W |
probably null |
Het |
| Neto2 |
C |
A |
8: 86,417,515 (GRCm39) |
D30Y |
probably benign |
Het |
| Nlrp6 |
A |
T |
7: 140,503,333 (GRCm39) |
I450F |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,159,605 (GRCm39) |
|
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,495 (GRCm39) |
I11M |
probably benign |
Het |
| Pcdhb10 |
T |
G |
18: 37,546,815 (GRCm39) |
S630R |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,990,396 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
T |
A |
13: 73,961,795 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,034,886 (GRCm39) |
V192I |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,781,829 (GRCm39) |
S353T |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,708,441 (GRCm39) |
F753L |
probably damaging |
Het |
| Tcea1 |
C |
T |
1: 4,956,979 (GRCm39) |
T93I |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,626 (GRCm39) |
S665C |
probably damaging |
Het |
| Vdr |
A |
G |
15: 97,767,562 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,348 (GRCm39) |
T672P |
possibly damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tor4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Tor4a
|
APN |
2 |
25,084,810 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1486:Tor4a
|
UTSW |
2 |
25,084,691 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1916:Tor4a
|
UTSW |
2 |
25,085,414 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2958:Tor4a
|
UTSW |
2 |
25,084,980 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5237:Tor4a
|
UTSW |
2 |
25,084,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5356:Tor4a
|
UTSW |
2 |
25,085,918 (GRCm39) |
splice site |
probably null |
|
|
R5694:Tor4a
|
UTSW |
2 |
25,084,932 (GRCm39) |
missense |
probably benign |
|
|
R5874:Tor4a
|
UTSW |
2 |
25,084,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Tor4a
|
UTSW |
2 |
25,084,794 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6407:Tor4a
|
UTSW |
2 |
25,084,952 (GRCm39) |
missense |
probably benign |
|
|
R7056:Tor4a
|
UTSW |
2 |
25,084,853 (GRCm39) |
missense |
probably benign |
|
|
R7498:Tor4a
|
UTSW |
2 |
25,085,804 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7590:Tor4a
|
UTSW |
2 |
25,085,810 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8866:Tor4a
|
UTSW |
2 |
25,084,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8936:Tor4a
|
UTSW |
2 |
25,085,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9206:Tor4a
|
UTSW |
2 |
25,084,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9242:Tor4a
|
UTSW |
2 |
25,085,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation