Incidental Mutation 'IGL00786:Sidt2'
ID |
14015 |
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 # |
IGL00786
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45861101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 71
(S71P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162529]
[ENSMUST00000162072]
[ENSMUST00000162379]
|
AlphaFold |
Q8CIF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038488
AA Change: S281P
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000044290 Gene: ENSMUSG00000034908 AA Change: S281P
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 |
possibly damaging
Transcript: ENSMUST00000114573
AA Change: S281P
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110220 Gene: ENSMUSG00000034908 AA Change: S281P
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 benign
Transcript: ENSMUST00000160138
|
SMART Domains |
Protein: ENSMUSP00000124945 Gene: ENSMUSG00000034908
Domain | Start | End | E-Value | Type |
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
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: ENSMUST00000160911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160927
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162529
AA Change: S71P
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125060 Gene: ENSMUSG00000034908 AA Change: S71P
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 |
possibly damaging
Transcript: ENSMUST00000162072
AA Change: S281P
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124750 Gene: ENSMUSG00000034908 AA Change: S281P
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
AA Change: S93P
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124503 Gene: ENSMUSG00000034908 AA Change: S93P
Domain | Start | End | E-Value | Type |
Pfam:SID-1_RNA_chan
|
1 |
135 |
3.3e-29 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161606
AA Change: S51P
|
SMART Domains |
Protein: ENSMUSP00000125660 Gene: ENSMUSG00000034908 AA Change: S51P
Domain | Start | End | E-Value | Type |
Pfam:SID-1_RNA_chan
|
1 |
221 |
4.7e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216147
|
Predicted Effect |
probably benign
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
B3gat3 |
A |
G |
19: 8,904,149 (GRCm39) |
E320G |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
Camkmt |
T |
C |
17: 85,403,919 (GRCm39) |
V47A |
probably damaging |
Het |
Ccnl2 |
C |
T |
4: 155,905,337 (GRCm39) |
R284W |
probably damaging |
Het |
Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
Idh1 |
A |
G |
1: 65,205,402 (GRCm39) |
S188P |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
Tmem168 |
T |
C |
6: 13,602,674 (GRCm39) |
I231V |
probably benign |
Het |
Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
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 |
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 |
IGL01474:Sidt2
|
APN |
9 |
45,858,280 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2012-12-06 |