Incidental Mutation 'IGL02175:Tor1aip2'
| ID |
283074 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tor1aip2
|
| Ensembl Gene |
ENSMUSG00000050565 |
| Gene Name |
torsin A interacting protein 2 |
| Synonyms |
15kDa, 1110020D10Rik, Ifrg15, LULL1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155911410-155944607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155940752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 353
(S353P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060404]
[ENSMUST00000111757]
|
| AlphaFold |
Q8BYU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060404
AA Change: S353P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: S353P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAP1C
|
26 |
501 |
3.9e-222 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111757
AA Change: S353P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: S353P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAP1C
|
26 |
501 |
3.9e-169 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125371
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
Het |
|
| Other mutations in Tor1aip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Tor1aip2
|
APN |
1 |
155,935,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02328:Tor1aip2
|
APN |
1 |
155,940,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0143:Tor1aip2
|
UTSW |
1 |
155,935,294 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1037:Tor1aip2
|
UTSW |
1 |
155,941,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1146:Tor1aip2
|
UTSW |
1 |
155,940,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1146:Tor1aip2
|
UTSW |
1 |
155,940,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1694:Tor1aip2
|
UTSW |
1 |
155,941,031 (GRCm39) |
missense |
probably benign |
|
|
R1922:Tor1aip2
|
UTSW |
1 |
155,940,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Tor1aip2
|
UTSW |
1 |
155,927,588 (GRCm39) |
intron |
probably benign |
|
|
R2131:Tor1aip2
|
UTSW |
1 |
155,941,095 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3758:Tor1aip2
|
UTSW |
1 |
155,941,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4243:Tor1aip2
|
UTSW |
1 |
155,941,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4583:Tor1aip2
|
UTSW |
1 |
155,940,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Tor1aip2
|
UTSW |
1 |
155,940,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5564:Tor1aip2
|
UTSW |
1 |
155,939,307 (GRCm39) |
unclassified |
probably benign |
|
|
R6316:Tor1aip2
|
UTSW |
1 |
155,937,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6713:Tor1aip2
|
UTSW |
1 |
155,941,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6892:Tor1aip2
|
UTSW |
1 |
155,940,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7137:Tor1aip2
|
UTSW |
1 |
155,927,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8137:Tor1aip2
|
UTSW |
1 |
155,939,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9456:Tor1aip2
|
UTSW |
1 |
155,937,525 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1176:Tor1aip2
|
UTSW |
1 |
155,927,935 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2015-04-16 |
Incidental Mutation