Incidental Mutation 'R5927:Sidt2'
| ID |
459954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt2
|
| Ensembl Gene |
ENSMUSG00000034908 |
| Gene Name |
SID1 transmembrane family, member 2 |
| Synonyms |
CGI-40 |
| MMRRC Submission |
044122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R5927 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45855752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 530
(Y530C)
|
| 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: Y509C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: Y509C
| 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: Y530C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: Y530C
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000184840
|
| 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 |
|
| Meta Mutation Damage Score |
0.8862 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (73/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
A |
3: 153,644,745 (GRCm39) |
I60F |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,484,597 (GRCm39) |
|
probably null |
Het |
| Arhgdib |
A |
T |
6: 136,901,136 (GRCm39) |
W198R |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,018,111 (GRCm39) |
I1354N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,513,619 (GRCm39) |
K500* |
probably null |
Het |
| Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 117,984,048 (GRCm39) |
T70S |
possibly damaging |
Het |
| Col22a1 |
G |
T |
15: 71,878,815 (GRCm39) |
A114E |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
| Crebzf |
C |
T |
7: 90,093,531 (GRCm39) |
|
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| D630036H23Rik |
C |
A |
12: 36,431,671 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,335,864 (GRCm39) |
T2277S |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,184,194 (GRCm39) |
F2083Y |
probably damaging |
Het |
| Elavl4 |
T |
A |
4: 110,147,440 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,819,626 (GRCm39) |
Y111H |
probably damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,936,259 (GRCm39) |
Q243L |
probably benign |
Het |
| Eri2 |
C |
A |
7: 119,385,291 (GRCm39) |
L403F |
probably damaging |
Het |
| Fgfr4 |
T |
A |
13: 55,314,700 (GRCm39) |
N614K |
probably damaging |
Het |
| Gm5108 |
T |
G |
5: 68,134,214 (GRCm39) |
I74S |
unknown |
Het |
| Gpn1 |
T |
C |
5: 31,658,235 (GRCm39) |
F130L |
probably damaging |
Het |
| Gpr176 |
T |
A |
2: 118,203,521 (GRCm39) |
I50F |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,839,246 (GRCm39) |
S221P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,954,305 (GRCm39) |
T874A |
possibly damaging |
Het |
| Igkv12-40 |
A |
G |
6: 69,856,383 (GRCm39) |
|
noncoding transcript |
Het |
| Itgb2 |
C |
A |
10: 77,381,868 (GRCm39) |
P57T |
probably damaging |
Het |
| Kcmf1 |
T |
A |
6: 72,819,988 (GRCm39) |
D286V |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,799,388 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,846,326 (GRCm39) |
S76G |
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,622,096 (GRCm39) |
V223I |
probably damaging |
Het |
| Krt80 |
A |
G |
15: 101,262,089 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,808 (GRCm39) |
Y857C |
probably damaging |
Het |
| Lcorl |
G |
T |
5: 45,882,766 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,921,348 (GRCm39) |
V528A |
probably benign |
Het |
| Mmp8 |
T |
A |
9: 7,563,203 (GRCm39) |
N255K |
possibly damaging |
Het |
| Npat |
A |
T |
9: 53,473,521 (GRCm39) |
K438* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,444 (GRCm39) |
N5I |
possibly damaging |
Het |
| P4htm |
T |
C |
9: 108,474,582 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,340,972 (GRCm39) |
Y692H |
probably benign |
Het |
| Polr3h |
G |
T |
15: 81,801,480 (GRCm39) |
|
probably null |
Het |
| Prlr |
C |
T |
15: 10,322,532 (GRCm39) |
T176I |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,754,294 (GRCm39) |
F184V |
possibly damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,967,968 (GRCm39) |
F542I |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,116,792 (GRCm39) |
E448G |
probably damaging |
Het |
| Rpf1 |
A |
T |
3: 146,225,218 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
T |
C |
11: 120,946,500 (GRCm39) |
I132V |
probably benign |
Het |
| Sestd1 |
T |
A |
2: 77,017,503 (GRCm39) |
H688L |
probably benign |
Het |
| Sin3a |
A |
T |
9: 57,018,395 (GRCm39) |
K938M |
probably damaging |
Het |
| Sin3b |
C |
A |
8: 73,476,506 (GRCm39) |
R647S |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,889,988 (GRCm39) |
H439R |
possibly damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,822 (GRCm39) |
V134A |
probably benign |
Het |
| Stk11ip |
G |
A |
1: 75,501,335 (GRCm39) |
V24I |
possibly damaging |
Het |
| Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,654,514 (GRCm39) |
V295I |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,740,336 (GRCm39) |
M1170T |
probably damaging |
Het |
| Tpcn2 |
T |
A |
7: 144,832,521 (GRCm39) |
I112F |
probably damaging |
Het |
| Trdv2-2 |
T |
C |
14: 54,198,998 (GRCm39) |
L96P |
probably damaging |
Het |
| Trim24 |
T |
A |
6: 37,935,504 (GRCm39) |
W832R |
probably damaging |
Het |
| Usp4 |
T |
G |
9: 108,268,959 (GRCm39) |
S891A |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,440 (GRCm39) |
R265S |
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,931,494 (GRCm39) |
L60S |
probably benign |
Het |
| Wdr74 |
T |
C |
19: 8,717,197 (GRCm39) |
C220R |
possibly damaging |
Het |
| Xpo1 |
A |
T |
11: 23,218,653 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,218,656 (GRCm39) |
|
probably benign |
Het |
| Zfp850 |
C |
A |
7: 27,689,620 (GRCm39) |
G196V |
probably benign |
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 |
|
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'- TAGATGGAGCAGAGCTGGAC -3'
(R):5'- GAGTCAGGCATGTTAATAGCTACACT -3'
Sequencing Primer
(F):5'- ACTGGGGGAGGTCAGTCTG -3'
(R):5'- AGGCATGTTAATAGCTACACTCCTCC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation