Incidental Mutation 'IGL02171:Sidt2'
ID |
283545 |
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 # |
IGL02171
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45864068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 150
(R150L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000162072]
[ENSMUST00000162529]
[ENSMUST00000162379]
|
AlphaFold |
Q8CIF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038488
AA Change: R150L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044290 Gene: ENSMUSG00000034908 AA Change: R150L
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: R150L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110220 Gene: ENSMUSG00000034908 AA Change: R150L
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 |
noncoding transcript
Transcript: ENSMUST00000160670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160911
|
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: 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
AA Change: R150L
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124750 Gene: ENSMUSG00000034908 AA Change: R150L
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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000216147
|
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 |
4930590J08Rik |
A |
G |
6: 91,921,237 (GRCm39) |
I772M |
probably benign |
Het |
Abcg4 |
C |
A |
9: 44,186,306 (GRCm39) |
|
probably benign |
Het |
Abo |
A |
G |
2: 26,738,969 (GRCm39) |
I18T |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,777,921 (GRCm39) |
|
probably benign |
Het |
Apbb1 |
A |
G |
7: 105,208,333 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
G |
A |
5: 67,895,808 (GRCm39) |
S557L |
probably damaging |
Het |
Bora |
G |
T |
14: 99,284,758 (GRCm39) |
D3Y |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,246,972 (GRCm39) |
D323G |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
Dync1i1 |
G |
T |
6: 5,969,498 (GRCm39) |
R441L |
probably damaging |
Het |
Ecd |
T |
A |
14: 20,370,895 (GRCm39) |
Y608F |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
Erlin1 |
A |
G |
19: 44,037,555 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,883,040 (GRCm39) |
E2524G |
probably benign |
Het |
Garem1 |
C |
T |
18: 21,262,298 (GRCm39) |
D839N |
probably damaging |
Het |
Gdap1l1 |
T |
A |
2: 163,289,470 (GRCm39) |
V145E |
possibly damaging |
Het |
Gvin3 |
G |
T |
7: 106,200,548 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
A |
T |
8: 111,178,590 (GRCm39) |
K1062* |
probably null |
Het |
Igkv4-92 |
T |
C |
6: 68,732,573 (GRCm39) |
D2G |
probably benign |
Het |
Lemd3 |
T |
A |
10: 120,769,527 (GRCm39) |
|
probably benign |
Het |
Mbl1 |
C |
T |
14: 40,876,455 (GRCm39) |
|
probably benign |
Het |
Mdh1 |
T |
C |
11: 21,507,438 (GRCm39) |
|
probably benign |
Het |
Mms19 |
A |
G |
19: 41,945,578 (GRCm39) |
|
probably null |
Het |
Nrxn3 |
C |
A |
12: 89,159,933 (GRCm39) |
P20T |
probably damaging |
Het |
Nudt1 |
A |
G |
5: 140,323,348 (GRCm39) |
E100G |
probably damaging |
Het |
Or2y1e |
T |
A |
11: 49,218,862 (GRCm39) |
F208Y |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,505,285 (GRCm39) |
D70V |
probably damaging |
Het |
Palb2 |
A |
C |
7: 121,706,809 (GRCm39) |
S1083A |
probably damaging |
Het |
Phc2 |
T |
G |
4: 128,604,858 (GRCm39) |
F198C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,379,542 (GRCm39) |
D1056G |
possibly damaging |
Het |
Psg17 |
A |
G |
7: 18,552,712 (GRCm39) |
Y188H |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,103,543 (GRCm39) |
I1906F |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Supt3 |
T |
C |
17: 45,314,043 (GRCm39) |
I144T |
probably damaging |
Het |
Trip4 |
A |
G |
9: 65,788,332 (GRCm39) |
S38P |
probably damaging |
Het |
Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Wdr72 |
A |
T |
9: 74,117,816 (GRCm39) |
M843L |
possibly damaging |
Het |
Zfp595 |
T |
A |
13: 67,464,719 (GRCm39) |
N518Y |
possibly damaging |
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 |
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 |
|
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 |
2015-04-16 |