Incidental Mutation 'R1241:Sidt2'
ID |
152004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sidt2
|
Ensembl Gene |
ENSMUSG00000034908 |
Gene Name |
SID1 transmembrane family, member 2 |
Synonyms |
CGI-40 |
MMRRC Submission |
039308-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R1241 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45857002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 435
(T435A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162072]
[ENSMUST00000162529]
[ENSMUST00000162379]
|
AlphaFold |
Q8CIF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038488
AA Change: T414A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044290 Gene: ENSMUSG00000034908 AA Change: T414A
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 damaging
Transcript: ENSMUST00000114573
AA Change: T435A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110220 Gene: ENSMUSG00000034908 AA Change: T435A
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
AA Change: T137A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124945 Gene: ENSMUSG00000034908 AA Change: T137A
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
AA Change: T42A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125037 Gene: ENSMUSG00000034908 AA Change: T42A
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160670
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162072
AA Change: T458A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124750 Gene: ENSMUSG00000034908 AA Change: T458A
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
AA Change: T208A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000125060 Gene: ENSMUSG00000034908 AA Change: T208A
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 |
unknown
Transcript: ENSMUST00000161606
AA Change: T209A
|
SMART Domains |
Protein: ENSMUSP00000125660 Gene: ENSMUSG00000034908 AA Change: T209A
Domain | Start | End | E-Value | Type |
Pfam:SID-1_RNA_chan
|
1 |
221 |
4.7e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160927
|
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: ENSMUST00000162379
|
SMART Domains |
Protein: ENSMUSP00000124503 Gene: ENSMUSG00000034908
Domain | Start | End | E-Value | Type |
Pfam:SID-1_RNA_chan
|
1 |
135 |
3.3e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.0650 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
9030619P08Rik |
A |
C |
15: 75,301,846 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1l2 |
T |
C |
10: 83,331,889 (GRCm39) |
I639V |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,601,241 (GRCm39) |
|
probably benign |
Het |
Ap5z1 |
T |
C |
5: 142,455,869 (GRCm39) |
Y299H |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,733,526 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,832,689 (GRCm39) |
V2574I |
probably benign |
Het |
Atxn1l |
T |
A |
8: 110,459,612 (GRCm39) |
T217S |
probably benign |
Het |
Ccdc85a |
A |
G |
11: 28,346,150 (GRCm39) |
S89P |
probably benign |
Het |
Ccn5 |
T |
A |
2: 163,670,997 (GRCm39) |
M168K |
unknown |
Het |
Cd209e |
A |
T |
8: 3,899,124 (GRCm39) |
I196N |
probably damaging |
Het |
Cdhr4 |
A |
G |
9: 107,872,495 (GRCm39) |
S247G |
probably benign |
Het |
Cntn6 |
A |
T |
6: 104,809,470 (GRCm39) |
I502F |
probably damaging |
Het |
Crisp4 |
T |
C |
1: 18,193,018 (GRCm39) |
Y233C |
probably damaging |
Het |
Ctsb |
C |
A |
14: 63,376,553 (GRCm39) |
T261N |
probably benign |
Het |
Ctsk |
T |
C |
3: 95,408,185 (GRCm39) |
F14L |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,407,385 (GRCm39) |
I2110V |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,988 (GRCm39) |
M155T |
probably benign |
Het |
Echdc3 |
T |
C |
2: 6,217,611 (GRCm39) |
D54G |
probably benign |
Het |
Egln3 |
G |
A |
12: 54,228,479 (GRCm39) |
T209I |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,214,447 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,222,846 (GRCm39) |
S1018T |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,896,503 (GRCm38) |
I898T |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,536,456 (GRCm39) |
Y795F |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,267,614 (GRCm39) |
E417G |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,268 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
T |
C |
9: 69,941,615 (GRCm39) |
I318V |
probably benign |
Het |
Gm11437 |
T |
A |
11: 84,055,454 (GRCm39) |
H54L |
possibly damaging |
Het |
Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
A |
13: 45,038,368 (GRCm39) |
|
probably benign |
Het |
Kif5b |
A |
T |
18: 6,214,044 (GRCm39) |
V653E |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,274,365 (GRCm39) |
V2113A |
probably damaging |
Het |
Knl1 |
C |
T |
2: 118,903,054 (GRCm39) |
T1585I |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,161,572 (GRCm39) |
M497K |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,710,935 (GRCm39) |
W210R |
probably damaging |
Het |
Mrps22 |
A |
G |
9: 98,476,748 (GRCm39) |
V207A |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,390,256 (GRCm39) |
I2111V |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Nbea |
T |
A |
3: 55,965,461 (GRCm39) |
H484L |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nlrp2 |
T |
A |
7: 5,331,430 (GRCm39) |
D322V |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,636,947 (GRCm39) |
C1057R |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,142,394 (GRCm39) |
S62P |
probably damaging |
Het |
Nudt18 |
A |
G |
14: 70,816,867 (GRCm39) |
H157R |
probably benign |
Het |
Or10s1 |
C |
A |
9: 39,986,192 (GRCm39) |
N200K |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,904 (GRCm39) |
T254S |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,427,540 (GRCm39) |
T312A |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,061,720 (GRCm39) |
S429P |
probably damaging |
Het |
Suclg2 |
A |
G |
6: 95,474,563 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,279 (GRCm39) |
E573V |
unknown |
Het |
Tdrd1 |
A |
G |
19: 56,850,192 (GRCm39) |
T985A |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,369,698 (GRCm39) |
I357T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,008 (GRCm39) |
E13271G |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,969,857 (GRCm39) |
E661G |
probably damaging |
Het |
Vasp |
T |
G |
7: 18,992,958 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,775,503 (GRCm39) |
Y75N |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,440,770 (GRCm39) |
N363Y |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,476 (GRCm39) |
N426K |
probably benign |
Het |
Znhit2 |
C |
A |
19: 6,112,288 (GRCm39) |
N344K |
probably 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATCCCCAGGTTAGGCAGACAAG -3'
(R):5'- TAGGAGTACGTTTCCTGCCAGCAC -3'
Sequencing Primer
(F):5'- CTGTGGTCAAGTATGCCAAC -3'
(R):5'- AGCTCTGGCCCACAGTTTG -3'
|
Posted On |
2014-01-29 |