Incidental Mutation 'IGL02438:Ist1'
| ID |
293363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ist1
|
| Ensembl Gene |
ENSMUSG00000031729 |
| Gene Name |
increased sodium tolerance 1 homolog (yeast) |
| Synonyms |
2400003C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.882)
|
| Stock # |
IGL02438
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110397957-110419892 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 110402002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034164]
[ENSMUST00000057344]
[ENSMUST00000109242]
[ENSMUST00000212537]
|
| AlphaFold |
Q9CX00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034164
|
| SMART Domains |
Protein: ENSMUSP00000034164
Gene: ENSMUSG00000031729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ist1
|
12 |
176 |
4.4e-65 |
PFAM |
|
low complexity region
|
207 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
240 |
278 |
8.47e-5 |
PROSPERO |
|
internal_repeat_1
|
294 |
332 |
8.47e-5 |
PROSPERO |
|
low complexity region
|
333 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057344
|
| SMART Domains |
Protein: ENSMUSP00000051512
Gene: ENSMUSG00000048827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CLECT
|
26 |
142 |
4.25e-1 |
SMART |
|
internal_repeat_2
|
143 |
245 |
2.25e-8 |
PROSPERO |
|
low complexity region
|
246 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
348 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
349 |
431 |
1.22e-8 |
PROSPERO |
|
internal_repeat_2
|
378 |
466 |
2.25e-8 |
PROSPERO |
|
internal_repeat_1
|
518 |
731 |
1.22e-8 |
PROSPERO |
|
GPS
|
1007 |
1056 |
3.62e-5 |
SMART |
|
transmembrane domain
|
1075 |
1094 |
N/A |
INTRINSIC |
|
LH2
|
1119 |
1238 |
1.01e-9 |
SMART |
|
transmembrane domain
|
1282 |
1304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1319 |
1341 |
N/A |
INTRINSIC |
|
low complexity region
|
1398 |
1408 |
N/A |
INTRINSIC |
|
low complexity region
|
1451 |
1460 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1497 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1534 |
1556 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1576 |
1595 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1695 |
2110 |
2.8e-86 |
PFAM |
|
Pfam:Ion_trans
|
1858 |
2114 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109242
|
| SMART Domains |
Protein: ENSMUSP00000104865
Gene: ENSMUSG00000048827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CLECT
|
26 |
142 |
4.25e-1 |
SMART |
|
internal_repeat_2
|
143 |
245 |
2.63e-8 |
PROSPERO |
|
low complexity region
|
246 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
348 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
349 |
440 |
3.96e-14 |
PROSPERO |
|
internal_repeat_2
|
378 |
466 |
2.63e-8 |
PROSPERO |
|
internal_repeat_1
|
518 |
724 |
3.96e-14 |
PROSPERO |
|
GPS
|
1017 |
1066 |
3.62e-5 |
SMART |
|
transmembrane domain
|
1085 |
1104 |
N/A |
INTRINSIC |
|
LH2
|
1129 |
1248 |
1.01e-9 |
SMART |
|
transmembrane domain
|
1292 |
1314 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1329 |
1351 |
N/A |
INTRINSIC |
|
low complexity region
|
1408 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1461 |
1470 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1507 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1544 |
1566 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1586 |
1605 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1705 |
2120 |
1.3e-86 |
PFAM |
|
Pfam:Ion_trans
|
1868 |
2124 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212973
|
| 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 protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,101 (GRCm39) |
N648S |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,792,841 (GRCm39) |
I285M |
possibly damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,233,758 (GRCm39) |
F291S |
probably benign |
Het |
| Gm6619 |
T |
C |
6: 131,467,398 (GRCm39) |
S88P |
possibly damaging |
Het |
| Muc13 |
T |
A |
16: 33,628,350 (GRCm39) |
S367T |
possibly damaging |
Het |
| Necab3 |
T |
A |
2: 154,387,964 (GRCm39) |
D284V |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,981,511 (GRCm39) |
Q83* |
probably null |
Het |
| Ppcs |
A |
G |
4: 119,278,889 (GRCm39) |
|
probably benign |
Het |
| Slc26a2 |
G |
T |
18: 61,335,289 (GRCm39) |
H55N |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Trmt2b |
C |
A |
X: 133,143,832 (GRCm39) |
V219L |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,062 (GRCm39) |
D27G |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,824 (GRCm39) |
F605L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,744 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Ist1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Ist1
|
APN |
8 |
110,409,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01888:Ist1
|
APN |
8 |
110,410,400 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02117:Ist1
|
APN |
8 |
110,405,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02240:Ist1
|
APN |
8 |
110,408,836 (GRCm39) |
splice site |
probably benign |
|
|
IGL02883:Ist1
|
APN |
8 |
110,410,300 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Ist1
|
UTSW |
8 |
110,403,418 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0008:Ist1
|
UTSW |
8 |
110,403,418 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0165:Ist1
|
UTSW |
8 |
110,401,998 (GRCm39) |
unclassified |
probably benign |
|
|
R1835:Ist1
|
UTSW |
8 |
110,405,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Ist1
|
UTSW |
8 |
110,404,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7092:Ist1
|
UTSW |
8 |
110,409,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7395:Ist1
|
UTSW |
8 |
110,404,159 (GRCm39) |
missense |
probably benign |
|
|
R8303:Ist1
|
UTSW |
8 |
110,410,412 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9566:Ist1
|
UTSW |
8 |
110,408,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation