Incidental Mutation 'R8265:Sidt1'
| ID |
639697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sidt1
|
| Ensembl Gene |
ENSMUSG00000022696 |
| Gene Name |
SID1 transmembrane family, member 1 |
| Synonyms |
B830021E24Rik |
| MMRRC Submission |
067690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44060543-44153559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44088250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 381
(R381M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047446]
[ENSMUST00000127567]
[ENSMUST00000136381]
|
| AlphaFold |
Q6AXF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047446
AA Change: R381M
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038433
Gene: ENSMUSG00000022696
AA Change: R381M
| 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 |
probably damaging
Transcript: ENSMUST00000136381
AA Change: R381M
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115372
Gene: ENSMUSG00000022696
AA Change: R381M
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
A |
G |
19: 3,766,568 (GRCm39) |
T52A |
probably benign |
Het |
| Adam9 |
T |
C |
8: 25,457,202 (GRCm39) |
Y642C |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,347,315 (GRCm39) |
E47G |
probably benign |
Het |
| Btbd9 |
T |
A |
17: 30,553,278 (GRCm39) |
T395S |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,364 (GRCm39) |
W800* |
probably null |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
G |
A |
7: 19,708,159 (GRCm39) |
V255M |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,126,236 (GRCm39) |
L1610M |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,222,426 (GRCm39) |
T729A |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,735,824 (GRCm39) |
V407E |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,217,603 (GRCm39) |
K1348E |
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,027,977 (GRCm39) |
S302T |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,299 (GRCm39) |
E31G |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Herc1 |
C |
T |
9: 66,293,986 (GRCm39) |
Q443* |
probably null |
Het |
| Hmgxb3 |
A |
G |
18: 61,300,410 (GRCm39) |
V222A |
possibly damaging |
Het |
| Hnrnpu |
A |
T |
1: 178,159,725 (GRCm39) |
I452N |
unknown |
Het |
| Ints1 |
C |
G |
5: 139,757,919 (GRCm39) |
D260H |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,383,557 (GRCm39) |
M766K |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,981,200 (GRCm39) |
C1720Y |
probably damaging |
Het |
| Mei1 |
C |
A |
15: 81,987,508 (GRCm39) |
Y433* |
probably null |
Het |
| Milr1 |
A |
G |
11: 106,654,711 (GRCm39) |
K188E |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,734,604 (GRCm39) |
F630S |
probably benign |
Het |
| Myoz2 |
A |
G |
3: 122,800,172 (GRCm39) |
F219L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,107,953 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or51f1e |
A |
G |
7: 102,747,304 (GRCm39) |
T119A |
probably benign |
Het |
| Or51v14 |
A |
T |
7: 103,261,048 (GRCm39) |
C171S |
possibly damaging |
Het |
| Or8b42 |
T |
C |
9: 38,342,469 (GRCm39) |
V297A |
probably damaging |
Het |
| Pi16 |
A |
G |
17: 29,545,947 (GRCm39) |
T242A |
probably benign |
Het |
| Pigw |
C |
A |
11: 84,770,847 (GRCm39) |
|
probably benign |
Het |
| Pipox |
T |
A |
11: 77,774,793 (GRCm39) |
T97S |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,625 (GRCm39) |
A631E |
unknown |
Het |
| Poteg |
T |
A |
8: 27,984,923 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Prdm14 |
A |
G |
1: 13,184,618 (GRCm39) |
S518P |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,043,423 (GRCm39) |
E441G |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,614,794 (GRCm39) |
|
probably null |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,994,110 (GRCm39) |
D51G |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,952,839 (GRCm39) |
S148T |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,938,426 (GRCm39) |
S149P |
probably damaging |
Het |
| Trafd1 |
T |
A |
5: 121,511,340 (GRCm39) |
I493F |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,722,344 (GRCm39) |
S289L |
possibly damaging |
Het |
| Zfp267 |
T |
C |
3: 36,213,677 (GRCm39) |
|
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
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 |
|
|
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 |
|
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'- GAGGCATTGGTGAGGATCATTTTAC -3'
(R):5'- TCAGCCCTAGAAACAGGGAG -3'
Sequencing Primer
(F):5'- GGTGAGGATCATTTTACTACCAAAC -3'
(R):5'- AAAATGAGGAGGCAGCCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation