Incidental Mutation 'IGL02424:A930011G23Rik'
ID |
292814 |
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 # |
IGL02424
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 99377241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 402
(P402L)
|
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: P316L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: P316L
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166484
AA Change: P274L
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: P274L
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166632
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168092
AA Change: P315L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: P315L
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: P402L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,880,466 (GRCm39) |
|
probably benign |
Het |
Abl1 |
G |
A |
2: 31,691,144 (GRCm39) |
V888I |
probably benign |
Het |
Adcy9 |
G |
T |
16: 4,106,461 (GRCm39) |
N884K |
probably damaging |
Het |
Alyref |
T |
C |
11: 120,486,133 (GRCm39) |
N176D |
probably benign |
Het |
Amtn |
T |
C |
5: 88,529,456 (GRCm39) |
|
probably benign |
Het |
Baz1b |
T |
C |
5: 135,246,833 (GRCm39) |
Y761H |
probably damaging |
Het |
Cckar |
T |
A |
5: 53,863,770 (GRCm39) |
T64S |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,142,340 (GRCm39) |
F1521S |
probably benign |
Het |
Cyp11b1 |
T |
C |
15: 74,711,085 (GRCm39) |
T198A |
probably benign |
Het |
Def8 |
G |
T |
8: 124,186,387 (GRCm39) |
L399F |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,948,790 (GRCm39) |
|
probably benign |
Het |
Ets1 |
T |
A |
9: 32,665,589 (GRCm39) |
Y181* |
probably null |
Het |
Fas |
A |
T |
19: 34,304,434 (GRCm39) |
M232L |
probably damaging |
Het |
Fkbp10 |
T |
A |
11: 100,306,782 (GRCm39) |
V37E |
probably damaging |
Het |
Galnt3 |
A |
G |
2: 65,926,132 (GRCm39) |
|
probably null |
Het |
Gdap1 |
T |
C |
1: 17,231,402 (GRCm39) |
V249A |
probably damaging |
Het |
Gm5356 |
T |
A |
8: 89,913,594 (GRCm39) |
|
noncoding transcript |
Het |
Gm7732 |
A |
G |
17: 21,349,709 (GRCm39) |
|
noncoding transcript |
Het |
Gpr3 |
G |
T |
4: 132,938,405 (GRCm39) |
A89E |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,601,973 (GRCm39) |
|
probably null |
Het |
Kit |
T |
G |
5: 75,799,766 (GRCm39) |
D499E |
probably benign |
Het |
Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
Med12l |
T |
C |
3: 59,000,143 (GRCm39) |
L666P |
probably benign |
Het |
Mmp2 |
T |
G |
8: 93,562,635 (GRCm39) |
C291G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,154,203 (GRCm39) |
Y2303H |
probably damaging |
Het |
Or14a259 |
C |
A |
7: 86,012,688 (GRCm39) |
V286L |
probably benign |
Het |
Or1d2 |
T |
A |
11: 74,256,299 (GRCm39) |
M268K |
probably benign |
Het |
Or1o2 |
T |
C |
17: 37,543,263 (GRCm39) |
|
probably benign |
Het |
Pde1b |
T |
A |
15: 103,436,646 (GRCm39) |
|
probably benign |
Het |
Prl7a2 |
A |
C |
13: 27,851,953 (GRCm39) |
C9G |
probably null |
Het |
Rabl6 |
A |
G |
2: 25,477,469 (GRCm39) |
V327A |
probably benign |
Het |
Robo2 |
T |
A |
16: 73,770,189 (GRCm39) |
I516F |
possibly damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Slc35a3 |
G |
A |
3: 116,488,267 (GRCm39) |
T140I |
possibly damaging |
Het |
Slc38a7 |
A |
G |
8: 96,568,200 (GRCm39) |
V395A |
probably damaging |
Het |
Stag3 |
T |
A |
5: 138,280,247 (GRCm39) |
C37* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
Strn |
A |
G |
17: 78,991,780 (GRCm39) |
S180P |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,867,064 (GRCm39) |
T83A |
probably benign |
Het |
Vmn1r69 |
T |
C |
7: 10,314,585 (GRCm39) |
I49V |
probably benign |
Het |
Vrk2 |
G |
A |
11: 26,426,564 (GRCm39) |
P387L |
probably benign |
Het |
Xdh |
A |
T |
17: 74,233,565 (GRCm39) |
M183K |
probably benign |
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 |
IGL01400:A930011G23Rik
|
APN |
5 |
99,390,960 (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 |
99,377,236 (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 |
2015-04-16 |