Incidental Mutation 'R0549:Sidt2'
ID |
45025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sidt2
|
Ensembl Gene |
ENSMUSG00000034908 |
Gene Name |
SID1 transmembrane family, member 2 |
Synonyms |
CGI-40 |
MMRRC Submission |
038741-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R0549 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 45864417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000160138]
[ENSMUST00000162072]
[ENSMUST00000162072]
[ENSMUST00000162379]
[ENSMUST00000162529]
|
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 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: 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 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 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 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 |
noncoding transcript
Transcript: ENSMUST00000216147
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
96% (48/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,633,216 (GRCm39) |
F498L |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,433,763 (GRCm39) |
D64V |
possibly damaging |
Het |
Agbl2 |
T |
C |
2: 90,620,187 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,919,692 (GRCm39) |
S151G |
probably benign |
Het |
Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
C4b |
G |
T |
17: 34,954,389 (GRCm39) |
L927I |
probably damaging |
Het |
Ccl3 |
T |
C |
11: 83,539,162 (GRCm39) |
T66A |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 110,036,674 (GRCm39) |
L618P |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,957,603 (GRCm39) |
T989A |
probably benign |
Het |
Cfhr4 |
A |
T |
1: 139,667,226 (GRCm39) |
D377E |
probably damaging |
Het |
Cnpy4 |
T |
C |
5: 138,185,899 (GRCm39) |
F18S |
possibly damaging |
Het |
Col6a5 |
A |
G |
9: 105,781,778 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
G |
A |
16: 48,139,034 (GRCm39) |
R289H |
probably benign |
Het |
Evx2 |
T |
C |
2: 74,489,478 (GRCm39) |
T96A |
probably benign |
Het |
Frmd4a |
A |
G |
2: 4,608,778 (GRCm39) |
E577G |
possibly damaging |
Het |
Gcgr |
G |
A |
11: 120,427,387 (GRCm39) |
G166S |
probably benign |
Het |
Gm5316 |
T |
C |
6: 122,877,150 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
G |
A |
11: 57,119,799 (GRCm39) |
R292Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,919,261 (GRCm39) |
|
probably null |
Het |
Hkdc1 |
T |
A |
10: 62,236,019 (GRCm39) |
T508S |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,410 (GRCm39) |
I291N |
probably damaging |
Het |
Lmbrd1 |
A |
T |
1: 24,784,001 (GRCm39) |
T377S |
probably benign |
Het |
Lrrc28 |
A |
G |
7: 67,278,090 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,455,638 (GRCm39) |
N463I |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,196,065 (GRCm39) |
F578S |
probably damaging |
Het |
Ncbp1 |
T |
A |
4: 46,168,476 (GRCm39) |
M608K |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,359,597 (GRCm39) |
F1412L |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,141,227 (GRCm39) |
W1083R |
probably damaging |
Het |
Nrsn1 |
T |
C |
13: 25,446,241 (GRCm39) |
Y45C |
probably benign |
Het |
Or3a1b |
T |
G |
11: 74,012,301 (GRCm39) |
M62R |
probably damaging |
Het |
Osbpl7 |
G |
T |
11: 96,958,368 (GRCm39) |
R881L |
probably damaging |
Het |
Papss1 |
A |
G |
3: 131,324,974 (GRCm39) |
E456G |
possibly damaging |
Het |
Pbxip1 |
T |
A |
3: 89,350,899 (GRCm39) |
|
probably benign |
Het |
Pcca |
A |
G |
14: 122,875,789 (GRCm39) |
|
probably benign |
Het |
Pde1a |
T |
A |
2: 79,695,414 (GRCm39) |
N511I |
probably damaging |
Het |
Prpf39 |
A |
T |
12: 65,103,030 (GRCm39) |
I435F |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,355,908 (GRCm39) |
T4117M |
probably damaging |
Het |
Sel1l2 |
A |
T |
2: 140,107,802 (GRCm39) |
M216K |
probably damaging |
Het |
Sirt3 |
A |
T |
7: 140,449,400 (GRCm39) |
|
probably null |
Het |
Smpd4 |
T |
C |
16: 17,457,176 (GRCm39) |
V378A |
probably benign |
Het |
Svil |
T |
A |
18: 5,064,566 (GRCm39) |
S642T |
possibly damaging |
Het |
Tcp10a |
A |
G |
17: 7,593,950 (GRCm39) |
K92E |
probably benign |
Het |
Tmem144 |
T |
C |
3: 79,730,051 (GRCm39) |
D233G |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnik |
T |
C |
3: 28,625,069 (GRCm39) |
S335P |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,679,150 (GRCm39) |
L4786P |
probably damaging |
Het |
Utp11 |
A |
T |
4: 124,579,872 (GRCm39) |
|
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,181,641 (GRCm39) |
N241D |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,199,963 (GRCm39) |
C497S |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAGGGTAGACACGTCCACATAG -3'
(R):5'- GTTCCCTCACAAGGAGAAGCACAG -3'
Sequencing Primer
(F):5'- CGCTGATATCTATGGTCCAAGACAG -3'
(R):5'- AAGCACAGACAGTGTCCTG -3'
|
Posted On |
2013-06-11 |