Incidental Mutation 'R2386:1700020L24Rik'
| ID |
247706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700020L24Rik
|
| Ensembl Gene |
ENSMUSG00000035085 |
| Gene Name |
RIKEN cDNA 1700020L24 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83328520-83332058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83328575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021020]
[ENSMUST00000037378]
[ENSMUST00000103209]
[ENSMUST00000108137]
[ENSMUST00000188702]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021020
|
| SMART Domains |
Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
1e-11 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
328 |
361 |
7.46e0 |
SMART |
|
HX
|
363 |
406 |
1.64e-1 |
SMART |
|
HX
|
408 |
454 |
1.78e-2 |
SMART |
|
HX
|
456 |
500 |
5.79e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037378
AA Change: D2G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4637
|
5 |
169 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103209
|
| SMART Domains |
Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
9.7e-12 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
349 |
392 |
1.64e-1 |
SMART |
|
HX
|
394 |
440 |
1.78e-2 |
SMART |
|
HX
|
442 |
486 |
5.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108137
|
| SMART Domains |
Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
2.6e-11 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
328 |
371 |
2.72e-7 |
SMART |
|
HX
|
373 |
416 |
1.64e-1 |
SMART |
|
HX
|
418 |
464 |
1.78e-2 |
SMART |
|
HX
|
466 |
510 |
5.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188702
|
| SMART Domains |
Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4637
|
6 |
111 |
2.8e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
Het |
|
| Other mutations in 1700020L24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:1700020L24Rik
|
APN |
11 |
83,331,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4280001:1700020L24Rik
|
UTSW |
11 |
83,331,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:1700020L24Rik
|
UTSW |
11 |
83,331,232 (GRCm39) |
nonsense |
probably null |
|
|
R1939:1700020L24Rik
|
UTSW |
11 |
83,331,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:1700020L24Rik
|
UTSW |
11 |
83,331,190 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7088:1700020L24Rik
|
UTSW |
11 |
83,331,232 (GRCm39) |
nonsense |
probably null |
|
|
R8799:1700020L24Rik
|
UTSW |
11 |
83,331,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:1700020L24Rik
|
UTSW |
11 |
83,331,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCATCGGTCTCTAAGCAG -3'
(R):5'- AGATCCTTAGCATGCAGGCC -3'
Sequencing Primer
(F):5'- ATCGGTCTCTAAGCAGAGCCTATG -3'
(R):5'- CTTAGCATGCAGGCCAGAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation