Incidental Mutation 'IGL01714:1700030K09Rik'
| ID |
104905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700030K09Rik
|
| Ensembl Gene |
ENSMUSG00000052794 |
| Gene Name |
RIKEN cDNA 1700030K09 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73197724-73214385 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 73209413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064853]
[ENSMUST00000079510]
[ENSMUST00000121902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064853
|
| SMART Domains |
Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
438 |
608 |
2e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079510
|
| SMART Domains |
Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
13 |
65 |
9.76e-24 |
SMART |
|
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
124 |
N/A |
INTRINSIC |
|
RPR
|
156 |
286 |
5.32e-2 |
SMART |
|
coiled coil region
|
310 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
829 |
N/A |
INTRINSIC |
|
G_patch
|
850 |
900 |
9.8e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121902
|
| SMART Domains |
Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
|
Pfam:DUF4614
|
400 |
575 |
1.3e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139130
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
T |
A |
15: 101,035,251 (GRCm39) |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,442 (GRCm39) |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,102 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,153 (GRCm39) |
N682S |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,151,870 (GRCm39) |
C436* |
probably null |
Het |
| Cyp2d40 |
T |
G |
15: 82,645,441 (GRCm39) |
D142A |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,169,269 (GRCm39) |
S9P |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,149 (GRCm39) |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,870 (GRCm39) |
Y732C |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,458,490 (GRCm39) |
N101S |
probably benign |
Het |
| Faxc |
C |
T |
4: 21,936,688 (GRCm39) |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,679,714 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,602,075 (GRCm39) |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,796,117 (GRCm39) |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,415,266 (GRCm39) |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,916,658 (GRCm39) |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,518,398 (GRCm39) |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,905,496 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,408,855 (GRCm39) |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,225,410 (GRCm39) |
I1054F |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,244,144 (GRCm39) |
N84S |
probably benign |
Het |
| Ppp1r9b |
C |
A |
11: 94,896,180 (GRCm39) |
T817N |
probably damaging |
Het |
| Prkd2 |
T |
A |
7: 16,597,867 (GRCm39) |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,529,152 (GRCm39) |
|
probably benign |
Het |
| S2bpcox16 |
A |
G |
12: 81,557,664 (GRCm39) |
I47T |
probably damaging |
Het |
| Smarcd1 |
C |
T |
15: 99,610,302 (GRCm39) |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,759,181 (GRCm39) |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,687,523 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,277 (GRCm39) |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,369,143 (GRCm39) |
K332N |
probably damaging |
Het |
|
| Other mutations in 1700030K09Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:1700030K09Rik
|
APN |
8 |
73,209,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01010:1700030K09Rik
|
APN |
8 |
73,199,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01449:1700030K09Rik
|
APN |
8 |
73,198,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03256:1700030K09Rik
|
APN |
8 |
73,199,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03275:1700030K09Rik
|
APN |
8 |
73,198,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:1700030K09Rik
|
UTSW |
8 |
73,199,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0501:1700030K09Rik
|
UTSW |
8 |
73,209,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1444:1700030K09Rik
|
UTSW |
8 |
73,205,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:1700030K09Rik
|
UTSW |
8 |
73,203,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:1700030K09Rik
|
UTSW |
8 |
73,208,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2154:1700030K09Rik
|
UTSW |
8 |
73,208,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2298:1700030K09Rik
|
UTSW |
8 |
73,209,247 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3743:1700030K09Rik
|
UTSW |
8 |
73,199,013 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4787:1700030K09Rik
|
UTSW |
8 |
73,199,008 (GRCm39) |
nonsense |
probably null |
|
|
R4860:1700030K09Rik
|
UTSW |
8 |
73,209,267 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4860:1700030K09Rik
|
UTSW |
8 |
73,209,267 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4994:1700030K09Rik
|
UTSW |
8 |
73,208,962 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5857:1700030K09Rik
|
UTSW |
8 |
73,203,369 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6256:1700030K09Rik
|
UTSW |
8 |
73,205,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:1700030K09Rik
|
UTSW |
8 |
73,209,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:1700030K09Rik
|
UTSW |
8 |
73,203,303 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7923:1700030K09Rik
|
UTSW |
8 |
73,198,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:1700030K09Rik
|
UTSW |
8 |
73,199,219 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9109:1700030K09Rik
|
UTSW |
8 |
73,198,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9298:1700030K09Rik
|
UTSW |
8 |
73,198,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9409:1700030K09Rik
|
UTSW |
8 |
73,211,888 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2014-01-21 |
Incidental Mutation