Incidental Mutation 'IGL02898:Sidt1'
ID |
363472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sidt1
|
Ensembl Gene |
ENSMUSG00000022696 |
Gene Name |
SID1 transmembrane family, member 1 |
Synonyms |
B830021E24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02898
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44102858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 289
(R289Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047446]
[ENSMUST00000136381]
|
AlphaFold |
Q6AXF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047446
AA Change: R289Q
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038433 Gene: ENSMUSG00000022696 AA Change: R289Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
Pfam:SID-1_RNA_chan
|
184 |
832 |
1.8e-290 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127124
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136381
AA Change: R289Q
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115372 Gene: ENSMUSG00000022696 AA Change: R289Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
Pfam:SID-1_RNA_chan
|
184 |
827 |
1.3e-251 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147032
AA Change: R1Q
|
SMART Domains |
Protein: ENSMUSP00000114424 Gene: ENSMUSG00000022696 AA Change: R1Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably damaging |
Het |
|
Other mutations in Sidt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00709:Sidt1
|
APN |
16 |
44,082,374 (GRCm39) |
splice site |
probably benign |
|
IGL01103:Sidt1
|
APN |
16 |
44,063,906 (GRCm39) |
nonsense |
probably null |
|
IGL01725:Sidt1
|
APN |
16 |
44,104,645 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02000:Sidt1
|
APN |
16 |
44,106,732 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02266:Sidt1
|
APN |
16 |
44,075,348 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02309:Sidt1
|
APN |
16 |
44,075,343 (GRCm39) |
missense |
probably benign |
0.00 |
R0282:Sidt1
|
UTSW |
16 |
44,102,249 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0525:Sidt1
|
UTSW |
16 |
44,079,809 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0927:Sidt1
|
UTSW |
16 |
44,063,895 (GRCm39) |
missense |
probably benign |
0.00 |
R1806:Sidt1
|
UTSW |
16 |
44,102,234 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1911:Sidt1
|
UTSW |
16 |
44,102,234 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3843:Sidt1
|
UTSW |
16 |
44,104,587 (GRCm39) |
missense |
probably benign |
0.04 |
R3848:Sidt1
|
UTSW |
16 |
44,076,322 (GRCm39) |
intron |
probably benign |
|
R4023:Sidt1
|
UTSW |
16 |
44,102,249 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4026:Sidt1
|
UTSW |
16 |
44,102,249 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4495:Sidt1
|
UTSW |
16 |
44,102,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Sidt1
|
UTSW |
16 |
44,075,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R4707:Sidt1
|
UTSW |
16 |
44,090,221 (GRCm39) |
nonsense |
probably null |
|
R5322:Sidt1
|
UTSW |
16 |
44,101,985 (GRCm39) |
intron |
probably benign |
|
R5921:Sidt1
|
UTSW |
16 |
44,094,098 (GRCm39) |
splice site |
probably benign |
|
R5980:Sidt1
|
UTSW |
16 |
44,083,675 (GRCm39) |
nonsense |
probably null |
|
R5982:Sidt1
|
UTSW |
16 |
44,082,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R6063:Sidt1
|
UTSW |
16 |
44,079,829 (GRCm39) |
missense |
probably benign |
0.01 |
R6337:Sidt1
|
UTSW |
16 |
44,121,298 (GRCm39) |
splice site |
probably null |
|
R6392:Sidt1
|
UTSW |
16 |
44,111,657 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6855:Sidt1
|
UTSW |
16 |
44,065,706 (GRCm39) |
missense |
probably null |
1.00 |
R7092:Sidt1
|
UTSW |
16 |
44,120,192 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7099:Sidt1
|
UTSW |
16 |
44,063,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Sidt1
|
UTSW |
16 |
44,106,763 (GRCm39) |
nonsense |
probably null |
|
R7574:Sidt1
|
UTSW |
16 |
44,079,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8265:Sidt1
|
UTSW |
16 |
44,088,250 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8379:Sidt1
|
UTSW |
16 |
44,106,755 (GRCm39) |
missense |
probably benign |
0.14 |
R8460:Sidt1
|
UTSW |
16 |
44,107,705 (GRCm39) |
nonsense |
probably null |
|
R8480:Sidt1
|
UTSW |
16 |
44,065,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8762:Sidt1
|
UTSW |
16 |
44,152,707 (GRCm39) |
missense |
probably benign |
0.16 |
R8954:Sidt1
|
UTSW |
16 |
44,082,390 (GRCm39) |
missense |
probably benign |
0.04 |
R8974:Sidt1
|
UTSW |
16 |
44,101,980 (GRCm39) |
makesense |
probably null |
|
R9362:Sidt1
|
UTSW |
16 |
44,078,316 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9451:Sidt1
|
UTSW |
16 |
44,075,392 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9669:Sidt1
|
UTSW |
16 |
44,102,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R9737:Sidt1
|
UTSW |
16 |
44,102,243 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sidt1
|
UTSW |
16 |
44,079,845 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1191:Sidt1
|
UTSW |
16 |
44,078,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-12-18 |