Incidental Mutation 'R9803:Sidt2'
| ID |
735324 |
| 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 # |
R9803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45854912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 588
(Y588H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000160618]
[ENSMUST00000162072]
[ENSMUST00000162379]
[ENSMUST00000162529]
|
| AlphaFold |
Q8CIF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038488
AA Change: Y567H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: Y567H
| 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: Y588H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: Y588H
| 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 |
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 |
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
|
| 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 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
G |
5: 113,841,964 (GRCm39) |
S52P |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,752,726 (GRCm39) |
M330T |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,698,340 (GRCm39) |
V905I |
possibly damaging |
Het |
| Anln |
G |
T |
9: 22,283,518 (GRCm39) |
D438E |
probably damaging |
Het |
| C1ql3 |
T |
C |
2: 13,009,200 (GRCm39) |
N215S |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,626 (GRCm39) |
S506G |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,175 (GRCm39) |
T556A |
probably benign |
Het |
| Cma1 |
A |
T |
14: 56,179,186 (GRCm39) |
N236K |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,262,986 (GRCm39) |
F724S |
|
Het |
| Cts8 |
T |
C |
13: 61,401,136 (GRCm39) |
K130R |
possibly damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,922 (GRCm39) |
T179S |
unknown |
Het |
| Fancd2os |
T |
C |
6: 113,574,938 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,394,866 (GRCm39) |
I168N |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,457,368 (GRCm39) |
G127D |
probably damaging |
Het |
| Gm11444 |
G |
A |
11: 85,737,699 (GRCm39) |
Q164* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,868,984 (GRCm39) |
V526E |
possibly damaging |
Het |
| Gm8947 |
T |
C |
1: 151,068,722 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hoxd13 |
C |
A |
2: 74,499,247 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Hps6 |
T |
A |
19: 45,993,947 (GRCm39) |
L628* |
probably null |
Het |
| Igha |
G |
A |
12: 113,222,759 (GRCm39) |
H221Y |
|
Het |
| Ighm |
A |
G |
12: 113,382,635 (GRCm39) |
S453P |
|
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Lfng |
A |
G |
5: 140,593,528 (GRCm39) |
T120A |
probably damaging |
Het |
| Lrrc4 |
C |
T |
6: 28,662,199 (GRCm39) |
A172T |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,787,520 (GRCm39) |
T386A |
probably benign |
Het |
| Mapkbp1 |
A |
T |
2: 119,841,256 (GRCm39) |
H81L |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mrto4 |
T |
A |
4: 139,076,381 (GRCm39) |
N70I |
probably damaging |
Het |
| Mxra8 |
C |
T |
4: 155,924,282 (GRCm39) |
|
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,483,997 (GRCm39) |
E548G |
|
Het |
| Ncan |
C |
T |
8: 70,560,751 (GRCm39) |
D739N |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,595 (GRCm39) |
V214A |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,259,563 (GRCm39) |
T215A |
possibly damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,088 (GRCm39) |
V86E |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,762,629 (GRCm39) |
V416M |
|
Het |
| Phf3 |
G |
T |
1: 30,869,872 (GRCm39) |
T392K |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,637,073 (GRCm39) |
V379E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,539 (GRCm39) |
Y1080C |
probably benign |
Het |
| Ptprs |
C |
A |
17: 56,729,217 (GRCm39) |
G1254C |
probably damaging |
Het |
| Qsox1 |
A |
T |
1: 155,658,416 (GRCm39) |
D384E |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,477,761 (GRCm39) |
F23L |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Tas2r139 |
T |
A |
6: 42,118,066 (GRCm39) |
I66K |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,107,980 (GRCm39) |
D474V |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,685 (GRCm39) |
G100D |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,184,637 (GRCm39) |
V75I |
probably benign |
Het |
| Tmem91 |
G |
T |
7: 25,369,988 (GRCm39) |
H95N |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,710,090 (GRCm39) |
K87E |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,680 (GRCm39) |
M209K |
probably benign |
Het |
| Tspan17 |
C |
A |
13: 54,941,092 (GRCm39) |
Q124K |
probably benign |
Het |
| Uts2b |
G |
A |
16: 27,179,692 (GRCm39) |
R105* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,730 (GRCm39) |
T282S |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,229,455 (GRCm39) |
M333L |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,781,833 (GRCm39) |
E482G |
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 |
|
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 |
|
X0026:Sidt2
|
UTSW |
9 |
45,850,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTTAGTTTGAGGGTCTCAG -3'
(R):5'- CACACAGCGCAGTCCTCTTC -3'
Sequencing Primer
(F):5'- AGGGAGCACTTCCTGAGATTC -3'
(R):5'- AGCGCAGTCCTCTTCCACAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation