Incidental Mutation 'IGL01400:A930011G23Rik'
ID |
79620 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
A930011G23Rik
|
Ensembl Gene |
ENSMUSG00000089809 |
Gene Name |
RIKEN cDNA A930011G23 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
IGL01400
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99390960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 133
(I133N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
AlphaFold |
Q8JZL7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031276
AA Change: I47N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: I47N
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166484
AA Change: I47N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: I47N
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168092
AA Change: I47N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: I47N
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
157 |
2.8e-4 |
SMART |
RasGEF
|
200 |
453 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209346
AA Change: I133N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
G |
1: 156,462,754 (GRCm39) |
C510G |
probably damaging |
Het |
Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
Cpm |
C |
A |
10: 117,495,680 (GRCm39) |
N56K |
probably benign |
Het |
Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
Ehd3 |
T |
C |
17: 74,135,089 (GRCm39) |
F322L |
probably benign |
Het |
Ell |
A |
G |
8: 71,031,563 (GRCm39) |
D87G |
probably damaging |
Het |
Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
Snapc3 |
C |
T |
4: 83,368,414 (GRCm39) |
P304S |
probably damaging |
Het |
Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly damaging |
Het |
|
Other mutations in A930011G23Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:A930011G23Rik
|
APN |
5 |
99,391,102 (GRCm39) |
splice site |
probably null |
|
IGL00536:A930011G23Rik
|
APN |
5 |
99,370,242 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00848:A930011G23Rik
|
APN |
5 |
99,370,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02421:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02421:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02422:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02422:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:A930011G23Rik
|
APN |
5 |
99,381,829 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:A930011G23Rik
|
APN |
5 |
99,370,854 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02498:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02498:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02499:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02499:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02609:A930011G23Rik
|
APN |
5 |
99,381,854 (GRCm39) |
splice site |
probably benign |
|
IGL02735:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02975:A930011G23Rik
|
APN |
5 |
99,381,784 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03129:A930011G23Rik
|
APN |
5 |
99,377,238 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03139:A930011G23Rik
|
APN |
5 |
99,391,067 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03239:A930011G23Rik
|
APN |
5 |
99,381,835 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03295:A930011G23Rik
|
APN |
5 |
99,390,915 (GRCm39) |
splice site |
probably benign |
|
R0011:A930011G23Rik
|
UTSW |
5 |
99,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:A930011G23Rik
|
UTSW |
5 |
99,388,812 (GRCm39) |
missense |
probably benign |
0.08 |
R0840:A930011G23Rik
|
UTSW |
5 |
99,382,547 (GRCm39) |
missense |
probably benign |
0.00 |
R1779:A930011G23Rik
|
UTSW |
5 |
99,370,897 (GRCm39) |
splice site |
probably benign |
|
R1799:A930011G23Rik
|
UTSW |
5 |
99,382,435 (GRCm39) |
missense |
probably benign |
0.01 |
R1992:A930011G23Rik
|
UTSW |
5 |
99,381,784 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2054:A930011G23Rik
|
UTSW |
5 |
99,375,914 (GRCm39) |
missense |
probably benign |
0.01 |
R2157:A930011G23Rik
|
UTSW |
5 |
99,379,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R2184:A930011G23Rik
|
UTSW |
5 |
99,380,228 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4565:A930011G23Rik
|
UTSW |
5 |
99,375,806 (GRCm39) |
intron |
probably benign |
|
R4930:A930011G23Rik
|
UTSW |
5 |
99,370,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5065:A930011G23Rik
|
UTSW |
5 |
99,382,432 (GRCm39) |
missense |
probably benign |
0.18 |
R5739:A930011G23Rik
|
UTSW |
5 |
99,369,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:A930011G23Rik
|
UTSW |
5 |
99,388,731 (GRCm39) |
missense |
probably benign |
0.05 |
R8228:A930011G23Rik
|
UTSW |
5 |
99,524,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2013-11-05 |