Incidental Mutation 'R5276:Sidt2'
ID |
403953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sidt2
|
Ensembl Gene |
ENSMUSG00000034908 |
Gene Name |
SID1 transmembrane family, member 2 |
Synonyms |
CGI-40 |
MMRRC Submission |
042863-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R5276 (G1)
|
Quality Score |
194 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
45849155-45866556 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45866075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 44
(N44Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038488]
[ENSMUST00000114573]
[ENSMUST00000162072]
[ENSMUST00000162379]
[ENSMUST00000162529]
|
AlphaFold |
Q8CIF6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038488
AA Change: N44Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044290 Gene: ENSMUSG00000034908 AA Change: N44Y
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: N44Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110220 Gene: ENSMUSG00000034908 AA Change: N44Y
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 |
noncoding transcript
Transcript: ENSMUST00000160911
|
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 |
possibly damaging
Transcript: ENSMUST00000162072
AA Change: N44Y
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124750 Gene: ENSMUSG00000034908 AA Change: N44Y
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 |
noncoding transcript
Transcript: ENSMUST00000216147
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,023,457 (GRCm39) |
F11S |
probably benign |
Het |
Adipor2 |
T |
A |
6: 119,334,182 (GRCm39) |
I343F |
probably damaging |
Het |
Ahdc1 |
C |
T |
4: 132,790,109 (GRCm39) |
P450L |
possibly damaging |
Het |
Akna |
A |
C |
4: 63,286,440 (GRCm39) |
V1353G |
possibly damaging |
Het |
Baz2b |
G |
A |
2: 59,792,958 (GRCm39) |
T390I |
probably benign |
Het |
Btbd7 |
T |
C |
12: 102,804,651 (GRCm39) |
K130E |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,965,415 (GRCm39) |
Y1101C |
probably damaging |
Het |
Crlf2 |
T |
G |
5: 109,705,501 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,347,186 (GRCm39) |
R281S |
probably damaging |
Het |
Dgcr8 |
T |
G |
16: 18,101,635 (GRCm39) |
T216P |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,579,896 (GRCm39) |
I34F |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,685,814 (GRCm39) |
S194P |
probably damaging |
Het |
Entpd8 |
C |
T |
2: 24,975,057 (GRCm39) |
R463W |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,255,004 (GRCm39) |
T407A |
probably benign |
Het |
Fam98b |
G |
T |
2: 117,089,779 (GRCm39) |
V99F |
possibly damaging |
Het |
Foxn3 |
T |
A |
12: 99,162,687 (GRCm39) |
K405* |
probably null |
Het |
Gsdmc |
T |
C |
15: 63,673,806 (GRCm39) |
T160A |
probably benign |
Het |
Hdac1 |
T |
C |
4: 129,422,716 (GRCm39) |
|
probably null |
Het |
Igfbp1 |
A |
C |
11: 7,151,892 (GRCm39) |
T232P |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,573,478 (GRCm39) |
H744Q |
probably damaging |
Het |
Mertk |
G |
C |
2: 128,643,234 (GRCm39) |
G878R |
possibly damaging |
Het |
Metap2 |
G |
T |
10: 93,704,784 (GRCm39) |
P281H |
possibly damaging |
Het |
Metap2 |
T |
A |
10: 93,704,794 (GRCm39) |
T278S |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,618,354 (GRCm39) |
V169A |
probably benign |
Het |
Mms22l |
A |
G |
4: 24,578,774 (GRCm39) |
D751G |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,312,918 (GRCm39) |
V138A |
probably benign |
Het |
Myef2 |
T |
A |
2: 124,937,641 (GRCm39) |
K533N |
probably damaging |
Het |
Mylk3 |
C |
T |
8: 86,082,071 (GRCm39) |
G309E |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,643,157 (GRCm39) |
V365A |
probably damaging |
Het |
Or4d2 |
A |
T |
11: 87,784,018 (GRCm39) |
I244N |
probably damaging |
Het |
Or5p57 |
A |
T |
7: 107,665,423 (GRCm39) |
L164* |
probably null |
Het |
Or7d10 |
C |
A |
9: 19,831,917 (GRCm39) |
N137K |
possibly damaging |
Het |
Or8g19 |
T |
C |
9: 39,055,611 (GRCm39) |
C72R |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,828,141 (GRCm39) |
K1323E |
probably damaging |
Het |
Pcdhga12 |
G |
A |
18: 37,899,728 (GRCm39) |
D187N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
A |
G |
5: 20,977,195 (GRCm39) |
V608A |
probably benign |
Het |
Plec |
G |
A |
15: 76,057,638 (GRCm39) |
R4122W |
probably damaging |
Het |
Polm |
A |
G |
11: 5,779,393 (GRCm39) |
S441P |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,104,734 (GRCm39) |
V1404E |
probably benign |
Het |
Ptger1 |
T |
G |
8: 84,395,974 (GRCm39) |
S344A |
possibly damaging |
Het |
Rasef |
A |
T |
4: 73,654,004 (GRCm39) |
D401E |
probably null |
Het |
Rbfox3 |
T |
C |
11: 118,387,178 (GRCm39) |
Y312C |
probably damaging |
Het |
Rbm48 |
A |
G |
5: 3,634,759 (GRCm39) |
C402R |
probably benign |
Het |
Rhbdl3 |
G |
A |
11: 80,210,492 (GRCm39) |
A82T |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Slf2 |
T |
A |
19: 44,923,600 (GRCm39) |
L138Q |
possibly damaging |
Het |
Spag16 |
T |
C |
1: 69,935,742 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,467,401 (GRCm39) |
P4188S |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,437 (GRCm39) |
S1075N |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,331,047 (GRCm39) |
D2151Y |
probably damaging |
Het |
Tbc1d32 |
C |
A |
10: 56,027,914 (GRCm39) |
L729F |
probably damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,584 (GRCm39) |
N91S |
possibly damaging |
Het |
Trim63 |
G |
A |
4: 134,050,444 (GRCm39) |
E243K |
probably benign |
Het |
Trim72 |
T |
G |
7: 127,603,714 (GRCm39) |
L20R |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,217 (GRCm39) |
M300V |
probably damaging |
Het |
Ubfd1 |
C |
T |
7: 121,668,091 (GRCm39) |
A207V |
probably damaging |
Het |
Usp16 |
T |
A |
16: 87,267,339 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,387,462 (GRCm39) |
I701F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,769,232 (GRCm39) |
Y2078H |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,153,958 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,522,031 (GRCm39) |
Y500C |
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 |
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'- TGGTGGAAACCAGGTCTTG -3'
(R):5'- ATCTGAGGCCGGGGTTAAAG -3'
Sequencing Primer
(F):5'- CAGGTCTTGGCAGGGGGAG -3'
(R):5'- AGATGCTGGAAGCTGCTGC -3'
|
Posted On |
2016-07-22 |