Incidental Mutation 'R5657:Tor1aip1'
| ID |
442365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor1aip1
|
| Ensembl Gene |
ENSMUSG00000026466 |
| Gene Name |
torsin A interacting protein 1 |
| Synonyms |
LAP1 |
| MMRRC Submission |
043171-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
155880345-155912226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155883234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 205
(H205N)
|
| 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 damaging
Transcript: ENSMUST00000027738
AA Change: H334N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027738
Gene: ENSMUSG00000026466
AA Change: H334N
| 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 damaging
Transcript: ENSMUST00000097527
AA Change: H390N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095134
Gene: ENSMUSG00000026466
AA Change: H390N
| 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 damaging
Transcript: ENSMUST00000169241
AA Change: H205N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126751
Gene: ENSMUSG00000026466
AA Change: H205N
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
| Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
| Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
| Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
| Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
| Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
| Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably damaging |
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 |
|
IGL00837:Tor1aip1
|
APN |
1 |
155,882,662 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGCTCCTGATCGACTTC -3'
(R):5'- CTGTCAAGATAAAGTGGTGGCTG -3'
Sequencing Primer
(F):5'- GATCGACTTCATGCTTAACGAGGTC -3'
(R):5'- GCTGGGACTTGTTGCCATCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation