Incidental Mutation 'R3843:Sidt1'
| ID |
277261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt1
|
| Ensembl Gene |
ENSMUSG00000022696 |
| Gene Name |
SID1 transmembrane family, member 1 |
| Synonyms |
B830021E24Rik |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44104587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 275
(F275I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047446]
[ENSMUST00000136381]
|
| AlphaFold |
Q6AXF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047446
AA Change: F275I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000038433
Gene: ENSMUSG00000022696
AA Change: F275I
| 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
AA Change: F275I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115372
Gene: ENSMUSG00000022696
AA Change: F275I
| 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 |
probably benign
Transcript: ENSMUST00000147032
|
| SMART Domains |
Protein: ENSMUSP00000114424
Gene: ENSMUSG00000022696
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1115 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGACATTTTGTAGTAGTCATAC -3'
(R):5'- TCTGGGGACTTAGAGAGCCTG -3'
Sequencing Primer
(F):5'- GTTAGCCCCTCAGTAAGA -3'
(R):5'- ACTTAGAGAGCCTGGGTGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation