Incidental Mutation 'IGL01010:1700030K09Rik'
ID |
53716 |
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: 0.049)
|
Stock # |
IGL01010
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
73197724-73214385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 73199059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 155
(S155R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019876]
[ENSMUST00000064853]
[ENSMUST00000121902]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019876
|
SMART Domains |
Protein: ENSMUSP00000019876 Gene: ENSMUSG00000019732
Domain | Start | End | E-Value | Type |
Pfam:Calreticulin
|
23 |
256 |
5.7e-40 |
PFAM |
Pfam:Calreticulin
|
255 |
315 |
6.6e-7 |
PFAM |
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064853
AA Change: S155R
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000063244 Gene: ENSMUSG00000052794 AA Change: S155R
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 damaging
Transcript: ENSMUST00000121902
AA Change: S155R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113279 Gene: ENSMUSG00000052794 AA Change: S155R
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 |
|
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 |
Acss3 |
G |
T |
10: 106,859,710 (GRCm39) |
|
probably benign |
Het |
Ano4 |
G |
A |
10: 88,796,462 (GRCm39) |
T680I |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,375 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
A |
G |
17: 74,134,484 (GRCm39) |
D281G |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,275,212 (GRCm39) |
L196P |
probably damaging |
Het |
Gal3st1 |
T |
C |
11: 3,946,914 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
A |
16: 91,439,980 (GRCm39) |
R4* |
probably null |
Het |
Gm21738 |
T |
A |
14: 19,417,361 (GRCm38) |
T56S |
probably benign |
Het |
Gm3573 |
T |
A |
14: 42,009,523 (GRCm39) |
I141L |
probably benign |
Het |
Gpr6 |
A |
G |
10: 40,947,147 (GRCm39) |
M145T |
probably benign |
Het |
Kcns3 |
T |
C |
12: 11,142,427 (GRCm39) |
M91V |
probably benign |
Het |
Mtarc2 |
T |
G |
1: 184,551,513 (GRCm39) |
I308L |
probably benign |
Het |
Mto1 |
A |
G |
9: 78,368,925 (GRCm39) |
K529R |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,446 (GRCm39) |
V1164D |
probably damaging |
Het |
Or2ag13 |
T |
C |
7: 106,473,460 (GRCm39) |
|
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,288 (GRCm39) |
I114N |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,503,984 (GRCm39) |
|
probably benign |
Het |
Psg26 |
T |
C |
7: 18,212,255 (GRCm39) |
S367G |
possibly damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,393,592 (GRCm39) |
M513V |
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,956,606 (GRCm39) |
G722D |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,827,986 (GRCm39) |
E1005G |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,959,048 (GRCm39) |
L122Q |
possibly damaging |
Het |
Traf2 |
G |
A |
2: 25,410,450 (GRCm39) |
R400* |
probably null |
Het |
Trim33 |
C |
T |
3: 103,254,031 (GRCm39) |
Q153* |
probably null |
Het |
Zmynd15 |
T |
C |
11: 70,356,742 (GRCm39) |
Y551H |
probably damaging |
Het |
Znrd2 |
A |
G |
19: 5,781,293 (GRCm39) |
S78P |
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 |
IGL01449:1700030K09Rik
|
APN |
8 |
73,198,693 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01714:1700030K09Rik
|
APN |
8 |
73,209,413 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-06-28 |