Incidental Mutation 'IGL00837:Tor1aip1'
ID |
26576 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tor1aip1
|
Ensembl Gene |
ENSMUSG00000026466 |
Gene Name |
torsin A interacting protein 1 |
Synonyms |
LAP1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00837
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
155880345-155912226 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to A
at 155882662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027738]
[ENSMUST00000097527]
[ENSMUST00000130995]
[ENSMUST00000136331]
[ENSMUST00000136397]
[ENSMUST00000141878]
[ENSMUST00000169241]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027738
|
SMART Domains |
Protein: ENSMUSP00000027738 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
Pfam:LAP1C
|
122 |
265 |
9.1e-36 |
PFAM |
Pfam:LAP1C
|
257 |
520 |
6.7e-171 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097527
|
SMART Domains |
Protein: ENSMUSP00000095134 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
low complexity region
|
149 |
167 |
N/A |
INTRINSIC |
Pfam:LAP1C
|
244 |
576 |
1.9e-165 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130995
|
SMART Domains |
Protein: ENSMUSP00000141619 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
Pfam:LAP1C
|
122 |
273 |
3.8e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136331
|
SMART Domains |
Protein: ENSMUSP00000137617 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
Pfam:LAP1C
|
122 |
283 |
8.4e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136397
|
SMART Domains |
Protein: ENSMUSP00000118654 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
Pfam:LAP1C
|
1 |
77 |
5.6e-15 |
PFAM |
Pfam:LAP1C
|
74 |
190 |
5.7e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141878
|
SMART Domains |
Protein: ENSMUSP00000123391 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
Pfam:LAP1C
|
1 |
176 |
1.4e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169241
|
SMART Domains |
Protein: ENSMUSP00000126751 Gene: ENSMUSG00000026466
Domain | Start | End | E-Value | Type |
Pfam:LAP1C
|
1 |
77 |
1.6e-14 |
PFAM |
Pfam:LAP1C
|
75 |
391 |
2.4e-195 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
probably null |
Het |
|
Other mutations in Tor1aip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00656:Tor1aip1
|
APN |
1 |
155,907,213 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02573:Tor1aip1
|
APN |
1 |
155,889,117 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02815:Tor1aip1
|
APN |
1 |
155,911,662 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Tor1aip1
|
APN |
1 |
155,911,590 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03128:Tor1aip1
|
APN |
1 |
155,882,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Tor1aip1
|
UTSW |
1 |
155,882,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R0319:Tor1aip1
|
UTSW |
1 |
155,882,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R0410:Tor1aip1
|
UTSW |
1 |
155,911,686 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0458:Tor1aip1
|
UTSW |
1 |
155,906,153 (GRCm39) |
missense |
probably damaging |
0.99 |
R0506:Tor1aip1
|
UTSW |
1 |
155,883,420 (GRCm39) |
nonsense |
probably null |
|
R0563:Tor1aip1
|
UTSW |
1 |
155,911,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Tor1aip1
|
UTSW |
1 |
155,893,262 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1745:Tor1aip1
|
UTSW |
1 |
155,906,180 (GRCm39) |
splice site |
probably null |
|
R1830:Tor1aip1
|
UTSW |
1 |
155,883,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Tor1aip1
|
UTSW |
1 |
155,883,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R4487:Tor1aip1
|
UTSW |
1 |
155,882,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R5613:Tor1aip1
|
UTSW |
1 |
155,909,499 (GRCm39) |
missense |
probably damaging |
0.98 |
R5657:Tor1aip1
|
UTSW |
1 |
155,883,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Tor1aip1
|
UTSW |
1 |
155,882,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R6380:Tor1aip1
|
UTSW |
1 |
155,894,234 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6647:Tor1aip1
|
UTSW |
1 |
155,893,999 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6852:Tor1aip1
|
UTSW |
1 |
155,911,566 (GRCm39) |
missense |
probably damaging |
0.99 |
R7354:Tor1aip1
|
UTSW |
1 |
155,911,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R7463:Tor1aip1
|
UTSW |
1 |
155,883,355 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7615:Tor1aip1
|
UTSW |
1 |
155,883,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8859:Tor1aip1
|
UTSW |
1 |
155,907,190 (GRCm39) |
missense |
probably benign |
0.04 |
R8956:Tor1aip1
|
UTSW |
1 |
155,909,582 (GRCm39) |
intron |
probably benign |
|
R9495:Tor1aip1
|
UTSW |
1 |
155,906,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R9514:Tor1aip1
|
UTSW |
1 |
155,906,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R9628:Tor1aip1
|
UTSW |
1 |
155,893,320 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-04-17 |