Incidental Mutation 'R9362:Sidt1'
| ID |
708767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt1
|
| Ensembl Gene |
ENSMUSG00000022696 |
| Gene Name |
SID1 transmembrane family, member 1 |
| Synonyms |
B830021E24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44078316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 649
(Y649C)
|
| 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: Y649C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038433
Gene: ENSMUSG00000022696
AA Change: Y649C
| 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 |
probably damaging
Transcript: ENSMUST00000136381
AA Change: Y649C
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115372
Gene: ENSMUSG00000022696
AA Change: Y649C
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,236,626 (GRCm39) |
N798I |
possibly damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
| Arhgef17 |
A |
C |
7: 100,580,165 (GRCm39) |
L261R |
probably benign |
Het |
| Bcr |
C |
A |
10: 74,993,023 (GRCm39) |
N839K |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,011,162 (GRCm39) |
T1786A |
probably benign |
Het |
| Bmpr1a |
A |
G |
14: 34,156,360 (GRCm39) |
I169T |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,922 (GRCm39) |
L1695Q |
probably null |
Het |
| Cnr1 |
T |
C |
4: 33,944,038 (GRCm39) |
I142T |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,833,304 (GRCm39) |
D167V |
possibly damaging |
Het |
| Fam136a |
C |
T |
6: 86,345,855 (GRCm39) |
T124I |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,623,064 (GRCm39) |
D70G |
probably benign |
Het |
| Ggcx |
T |
G |
6: 72,405,015 (GRCm39) |
N474K |
probably damaging |
Het |
| Gm10295 |
C |
A |
7: 71,000,755 (GRCm39) |
|
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,342 (GRCm39) |
H240R |
probably damaging |
Het |
| Gsr |
A |
T |
8: 34,179,406 (GRCm39) |
D338V |
probably damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,062 (GRCm39) |
I473N |
probably benign |
Het |
| Ighv5-8 |
A |
T |
12: 113,616,940 (GRCm39) |
D107E |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,400,384 (GRCm39) |
S649C |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,803,697 (GRCm39) |
D794G |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,444 (GRCm39) |
I273V |
|
Het |
| Mycbp2 |
C |
T |
14: 103,497,642 (GRCm39) |
V977I |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,932 (GRCm39) |
F758L |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,343,288 (GRCm39) |
I162F |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,095,265 (GRCm39) |
C1541Y |
|
Het |
| Nwd2 |
G |
T |
5: 63,961,747 (GRCm39) |
D444Y |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,482,391 (GRCm39) |
Y160H |
probably benign |
Het |
| Or8u8 |
C |
A |
2: 86,011,732 (GRCm39) |
C241F |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Sall2 |
T |
A |
14: 52,550,601 (GRCm39) |
K865* |
probably null |
Het |
| Shank2 |
A |
T |
7: 143,963,271 (GRCm39) |
D293V |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,304,236 (GRCm39) |
E154G |
probably damaging |
Het |
| Slc5a12 |
C |
T |
2: 110,447,044 (GRCm39) |
T184I |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,807 (GRCm39) |
I226T |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,254,865 (GRCm39) |
N1220Y |
probably damaging |
Het |
| Tars1 |
A |
G |
15: 11,387,616 (GRCm39) |
C557R |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,881,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,110,299 (GRCm39) |
S296F |
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 |
|
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 |
|
|
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 |
|
|
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'- AATGGTGGCTTATAGATCCCATAAGG -3'
(R):5'- ACCATGTCCTATAGTAACAGCTAG -3'
Sequencing Primer
(F):5'- TCCCATAAGGAGGAAGATATTCTTAG -3'
(R):5'- TGTCCTATAGTAACAGCTAGTTTGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation