Incidental Mutation 'R9160:Sidt2'
| ID |
695651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt2
|
| Ensembl Gene |
ENSMUSG00000034908 |
| Gene Name |
SID1 transmembrane family, member 2 |
| Synonyms |
CGI-40 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R9160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
A |
16: 20,379,246 (GRCm39) |
R704H |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,385,526 (GRCm39) |
F533L |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,304 (GRCm39) |
V1771I |
unknown |
Het |
| Aspm |
T |
C |
1: 139,417,862 (GRCm39) |
L2911S |
probably damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,660,143 (GRCm39) |
I380V |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,075,236 (GRCm39) |
L739I |
|
Het |
| Cacng6 |
T |
C |
7: 3,483,406 (GRCm39) |
S245P |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,916 (GRCm39) |
S1830G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,641,538 (GRCm39) |
M660T |
probably benign |
Het |
| Dnajc6 |
G |
A |
4: 101,470,258 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,857,962 (GRCm39) |
S1451P |
unknown |
Het |
| Ehd4 |
A |
G |
2: 119,967,440 (GRCm39) |
V118A |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,953 (GRCm39) |
D139G |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,515,715 (GRCm39) |
E1601K |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,785 (GRCm39) |
L142Q |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,372 (GRCm39) |
N213K |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,424,412 (GRCm39) |
F818L |
probably damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,761 (GRCm39) |
D339G |
unknown |
Het |
| Hpn |
G |
T |
7: 30,808,402 (GRCm39) |
P78T |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,610,782 (GRCm39) |
V175E |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,276,099 (GRCm39) |
L736P |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,775,772 (GRCm39) |
P262Q |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mc5r |
A |
T |
18: 68,472,205 (GRCm39) |
Y188F |
probably damaging |
Het |
| Mob1b |
T |
C |
5: 88,904,017 (GRCm39) |
S218P |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,201,982 (GRCm39) |
I248V |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Or1e29 |
A |
T |
11: 73,667,881 (GRCm39) |
S91T |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,318 (GRCm39) |
M1K |
probably null |
Het |
| Or2o1 |
G |
T |
11: 49,051,261 (GRCm39) |
W140L |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,330 (GRCm39) |
T57S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,465 (GRCm39) |
I507N |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,087,933 (GRCm39) |
D868E |
probably benign |
Het |
| Ptpn6 |
G |
C |
6: 124,705,135 (GRCm39) |
R264G |
possibly damaging |
Het |
| Rnf10 |
T |
A |
5: 115,398,249 (GRCm39) |
M95L |
probably benign |
Het |
| Rnf40 |
C |
T |
7: 127,190,993 (GRCm39) |
T326I |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,720 (GRCm39) |
T1464K |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,047,053 (GRCm39) |
E723G |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,445 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
A |
T |
19: 50,213,658 (GRCm39) |
C690S |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,099,611 (GRCm39) |
V107A |
probably damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,653 (GRCm39) |
H308L |
probably benign |
Het |
| Tmx2 |
A |
G |
2: 84,503,907 (GRCm39) |
F162S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,076,159 (GRCm39) |
S451N |
possibly damaging |
Het |
| Zbtb49 |
T |
A |
5: 38,363,246 (GRCm39) |
I446F |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,783,189 (GRCm39) |
I493N |
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 |
|
|
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 |
|
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'- AACCATTTTCTGCAGGCAGG -3'
(R):5'- TCACACTTGCTTGGAGTGAC -3'
Sequencing Primer
(F):5'- TTCTGCAGGCAGGAATGG -3'
(R):5'- CACACTTGCTTGGAGTGACGTAATTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation