Incidental Mutation 'R5322:Sidt1'
ID |
404931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sidt1
|
Ensembl Gene |
ENSMUSG00000022696 |
Gene Name |
SID1 transmembrane family, member 1 |
Synonyms |
B830021E24Rik |
MMRRC Submission |
042905-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5322 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 44101985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047446]
[ENSMUST00000136381]
|
AlphaFold |
Q6AXF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047446
|
SMART Domains |
Protein: ENSMUSP00000038433 Gene: ENSMUSG00000022696
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 |
probably benign
Transcript: ENSMUST00000136381
|
SMART Domains |
Protein: ENSMUSP00000115372 Gene: ENSMUSG00000022696
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: Q60L
|
SMART Domains |
Protein: ENSMUSP00000114424 Gene: ENSMUSG00000022696 AA Change: Q60L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
Ccdc66 |
A |
G |
14: 27,204,484 (GRCm39) |
S933P |
probably damaging |
Het |
Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,190,608 (GRCm39) |
|
probably null |
Het |
Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,947,800 (GRCm39) |
N143K |
possibly damaging |
Het |
Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
Pi4kb |
G |
A |
3: 94,901,560 (GRCm39) |
R436Q |
probably benign |
Het |
Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,652,476 (GRCm39) |
T31I |
probably damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGCTACGGACTATACCTC -3'
(R):5'- TAGGTGCACAGGTTCTTCCTCC -3'
Sequencing Primer
(F):5'- ACTTTTCGACAGAATGCTTCAG -3'
(R):5'- CCCTTTGCCTCTCTGTGTGG -3'
|
Posted On |
2016-07-22 |