Incidental Mutation 'IGL01474:Sidt2'
| ID |
88406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sidt2
|
| Ensembl Gene |
ENSMUSG00000034908 |
| Gene Name |
SID1 transmembrane family, member 2 |
| Synonyms |
CGI-40 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 45858280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162529]
[ENSMUST00000162072]
[ENSMUST00000162379]
|
| AlphaFold |
Q8CIF6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038488
|
| SMART Domains |
Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
832 |
8.5e-214 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114573
|
| SMART Domains |
Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
853 |
9e-290 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160138
|
| SMART Domains |
Protein: ENSMUSP00000124945
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160618
|
| SMART Domains |
Protein: ENSMUSP00000125037
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160927
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162529
|
| SMART Domains |
Protein: ENSMUSP00000125060
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
135 |
9.2e-20 |
PFAM |
|
low complexity region
|
202 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162072
|
| SMART Domains |
Protein: ENSMUSP00000124750
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SID-1_RNA_chan
|
169 |
338 |
2.3e-34 |
PFAM |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162379
|
| SMART Domains |
Protein: ENSMUSP00000124503
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
135 |
3.3e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161606
|
| SMART Domains |
Protein: ENSMUSP00000125660
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
1 |
221 |
4.7e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161042
|
| SMART Domains |
Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Sidt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Sidt2
|
APN |
9 |
45,853,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00586:Sidt2
|
APN |
9 |
45,854,350 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00786:Sidt2
|
APN |
9 |
45,861,101 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01069:Sidt2
|
APN |
9 |
45,854,375 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01160:Sidt2
|
APN |
9 |
45,854,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Sidt2
|
APN |
9 |
45,856,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02171:Sidt2
|
APN |
9 |
45,864,068 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02312:Sidt2
|
APN |
9 |
45,858,299 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02344:Sidt2
|
APN |
9 |
45,856,590 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03030:Sidt2
|
APN |
9 |
45,850,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Sidt2
|
APN |
9 |
45,853,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0157:Sidt2
|
UTSW |
9 |
45,850,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Sidt2
|
UTSW |
9 |
45,866,200 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0549:Sidt2
|
UTSW |
9 |
45,864,417 (GRCm39) |
splice site |
probably null |
|
|
R0714:Sidt2
|
UTSW |
9 |
45,858,358 (GRCm39) |
splice site |
probably benign |
|
|
R1241:Sidt2
|
UTSW |
9 |
45,857,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1511:Sidt2
|
UTSW |
9 |
45,861,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Sidt2
|
UTSW |
9 |
45,863,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Sidt2
|
UTSW |
9 |
45,864,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2152:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Sidt2
|
UTSW |
9 |
45,856,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Sidt2
|
UTSW |
9 |
45,854,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4349:Sidt2
|
UTSW |
9 |
45,857,011 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4855:Sidt2
|
UTSW |
9 |
45,863,327 (GRCm39) |
missense |
probably benign |
|
|
R5069:Sidt2
|
UTSW |
9 |
45,850,759 (GRCm39) |
splice site |
probably null |
|
|
R5175:Sidt2
|
UTSW |
9 |
45,863,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Sidt2
|
UTSW |
9 |
45,866,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5544:Sidt2
|
UTSW |
9 |
45,855,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Sidt2
|
UTSW |
9 |
45,853,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5927:Sidt2
|
UTSW |
9 |
45,855,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Sidt2
|
UTSW |
9 |
45,864,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7060:Sidt2
|
UTSW |
9 |
45,864,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7117:Sidt2
|
UTSW |
9 |
45,864,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7207:Sidt2
|
UTSW |
9 |
45,856,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Sidt2
|
UTSW |
9 |
45,854,988 (GRCm39) |
nonsense |
probably null |
|
|
R7765:Sidt2
|
UTSW |
9 |
45,852,873 (GRCm39) |
splice site |
probably null |
|
|
R8098:Sidt2
|
UTSW |
9 |
45,857,028 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9039:Sidt2
|
UTSW |
9 |
45,856,648 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Sidt2
|
UTSW |
9 |
45,852,658 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9160:Sidt2
|
UTSW |
9 |
45,858,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9261:Sidt2
|
UTSW |
9 |
45,861,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9313:Sidt2
|
UTSW |
9 |
45,852,658 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9641:Sidt2
|
UTSW |
9 |
45,864,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Sidt2
|
UTSW |
9 |
45,850,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9793:Sidt2
|
UTSW |
9 |
45,850,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9803:Sidt2
|
UTSW |
9 |
45,854,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sidt2
|
UTSW |
9 |
45,850,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation