Incidental Mutation 'IGL01290:1700020L24Rik'
ID |
72888 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700020L24Rik
|
Ensembl Gene |
ENSMUSG00000035085 |
Gene Name |
RIKEN cDNA 1700020L24 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.618)
|
Stock # |
IGL01290
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83328520-83332058 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83331621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 148
(H148R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021020]
[ENSMUST00000037378]
[ENSMUST00000103209]
[ENSMUST00000108137]
[ENSMUST00000119346]
[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 |
possibly damaging
Transcript: ENSMUST00000037378
AA Change: H148R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042098 Gene: ENSMUSG00000035085 AA Change: H148R
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: ENSMUST00000119346
|
SMART Domains |
Protein: ENSMUSP00000112566 Gene: ENSMUSG00000020682
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:PG_binding_1
|
31 |
86 |
7.4e-12 |
PFAM |
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
HX
|
328 |
371 |
2.72e-7 |
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
Other mutations in 1700020L24Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2386:1700020L24Rik
|
UTSW |
11 |
83,328,575 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-10-07 |