Incidental Mutation 'IGL01069:Sidt2'
ID |
51866 |
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 # |
IGL01069
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45854375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 616
(V616I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162379]
[ENSMUST00000162072]
[ENSMUST00000162529]
|
AlphaFold |
Q8CIF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038488
AA Change: V616I
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044290 Gene: ENSMUSG00000034908 AA Change: V616I
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 benign
Transcript: ENSMUST00000114573
AA Change: V637I
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110220 Gene: ENSMUSG00000034908 AA Change: V637I
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: ENSMUST00000159033
|
SMART Domains |
Protein: ENSMUSP00000125273 Gene: ENSMUSG00000034908
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
29 |
N/A |
INTRINSIC |
Pfam:SID-1_RNA_chan
|
30 |
74 |
1e-23 |
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 |
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: ENSMUST00000160927
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184840
|
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 benign
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 benign
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: ENSMUST00000161042
|
SMART Domains |
Protein: ENSMUSP00000124577 Gene: ENSMUSG00000034908
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
Gadl1 |
T |
C |
9: 115,783,907 (GRCm39) |
|
probably null |
Het |
Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
Rhbdf2 |
T |
C |
11: 116,492,577 (GRCm39) |
D437G |
possibly damaging |
Het |
Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,428,604 (GRCm39) |
E390G |
probably damaging |
Het |
Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
Tob1 |
T |
C |
11: 94,104,881 (GRCm39) |
F139S |
probably damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
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 |
IGL00786:Sidt2
|
APN |
9 |
45,861,101 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
2013-06-21 |