Incidental Mutation 'IGL02266:Sidt1'
| ID |
286882 |
| 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 # |
IGL02266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44075348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 670
(D670G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047446]
[ENSMUST00000127567]
[ENSMUST00000136381]
|
| AlphaFold |
Q6AXF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047446
AA Change: D675G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038433
Gene: ENSMUSG00000022696
AA Change: D675G
| 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: ENSMUST00000127567
|
| SMART Domains |
Protein: ENSMUSP00000116201
Gene: ENSMUSG00000022696
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SID-1_RNA_chan
|
2 |
445 |
8.6e-198 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136381
AA Change: D670G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115372
Gene: ENSMUSG00000022696
AA Change: D670G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,307,360 (GRCm39) |
Q1974* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,808,382 (GRCm39) |
V902L |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,493 (GRCm39) |
V274A |
probably damaging |
Het |
| Akr1b8 |
A |
G |
6: 34,331,208 (GRCm39) |
I15V |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,314 (GRCm39) |
Q574L |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,999,300 (GRCm39) |
I238N |
possibly damaging |
Het |
| Crk |
C |
A |
11: 75,570,415 (GRCm39) |
R16S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,843,163 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,725 (GRCm39) |
N369S |
possibly damaging |
Het |
| Fam220a |
T |
C |
5: 143,549,326 (GRCm39) |
V246A |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,481 (GRCm39) |
F370I |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,977 (GRCm39) |
Q294P |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,237,888 (GRCm39) |
F204L |
probably damaging |
Het |
| Lrrc8c |
A |
C |
5: 105,756,114 (GRCm39) |
I630L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,162 (GRCm39) |
D407G |
possibly damaging |
Het |
| Or4f61 |
G |
A |
2: 111,922,588 (GRCm39) |
L153F |
probably benign |
Het |
| Or8k22 |
T |
A |
2: 86,163,323 (GRCm39) |
I126F |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,791,086 (GRCm39) |
|
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,126,201 (GRCm39) |
T812A |
probably damaging |
Het |
| Phtf2 |
T |
G |
5: 21,010,797 (GRCm39) |
K63Q |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,010 (GRCm39) |
H3456L |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,903,855 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,697 (GRCm39) |
V734I |
possibly damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,470,166 (GRCm39) |
N38S |
probably damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,611 (GRCm39) |
W368R |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,045,092 (GRCm39) |
|
probably benign |
Het |
| Tekt5 |
A |
T |
16: 10,196,906 (GRCm39) |
I315N |
probably benign |
Het |
| Trappc11 |
A |
C |
8: 47,958,766 (GRCm39) |
C42G |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,626,331 (GRCm39) |
|
noncoding transcript |
Het |
| Ubqlnl |
C |
A |
7: 103,798,754 (GRCm39) |
E248* |
probably null |
Het |
| Ulk4 |
G |
T |
9: 120,910,766 (GRCm39) |
T1086K |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,978,234 (GRCm39) |
D680E |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,039 (GRCm39) |
Y346H |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,525,007 (GRCm39) |
I47T |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,129 (GRCm39) |
V178A |
probably benign |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,653 (GRCm39) |
T1096A |
probably benign |
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 |
|
IGL02309:Sidt1
|
APN |
16 |
44,075,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02898:Sidt1
|
APN |
16 |
44,102,858 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
2015-04-16 |
Incidental Mutation