Incidental Mutation 'IGL02498:A930011G23Rik'
ID |
295881 |
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 # |
IGL02498
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99377236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 404
(S404P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
AlphaFold |
Q8JZL7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031276
AA Change: S318P
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: S318P
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166484
AA Change: S276P
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: S276P
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 |
possibly damaging
Transcript: ENSMUST00000168092
AA Change: S317P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: S317P
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: S404P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,617,265 (GRCm39) |
|
probably null |
Het |
Abcg8 |
T |
C |
17: 84,990,693 (GRCm39) |
W12R |
probably benign |
Het |
Ablim1 |
A |
T |
19: 57,140,751 (GRCm39) |
C155* |
probably null |
Het |
Adam33 |
A |
G |
2: 130,895,157 (GRCm39) |
C658R |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,664,135 (GRCm39) |
H357R |
possibly damaging |
Het |
Adamts2 |
G |
T |
11: 50,668,023 (GRCm39) |
K528N |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,893,339 (GRCm39) |
P955S |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,770,815 (GRCm39) |
I365F |
probably damaging |
Het |
AW112010 |
T |
C |
19: 11,025,701 (GRCm39) |
|
noncoding transcript |
Het |
AY358078 |
T |
C |
14: 52,040,944 (GRCm39) |
S88P |
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,372,823 (GRCm39) |
L1504S |
probably benign |
Het |
Cracdl |
T |
C |
1: 37,662,926 (GRCm39) |
T991A |
probably benign |
Het |
Dgkg |
T |
A |
16: 22,367,441 (GRCm39) |
H593L |
probably damaging |
Het |
Gm10463 |
T |
C |
5: 32,288,742 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
T |
10: 10,595,723 (GRCm39) |
L635Q |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,109,244 (GRCm39) |
C160R |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,142,821 (GRCm39) |
R252H |
probably damaging |
Het |
Litaf |
A |
G |
16: 10,784,423 (GRCm39) |
V29A |
possibly damaging |
Het |
Lmo7 |
G |
A |
14: 102,044,918 (GRCm39) |
V57I |
probably benign |
Het |
Loxl4 |
A |
T |
19: 42,593,412 (GRCm39) |
L253Q |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,870,235 (GRCm39) |
V458I |
probably benign |
Het |
Ncstn |
G |
T |
1: 171,896,159 (GRCm39) |
F506L |
probably benign |
Het |
Nedd8 |
T |
A |
14: 55,901,273 (GRCm39) |
D21V |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,943,591 (GRCm39) |
T183A |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
Phf2 |
A |
G |
13: 48,958,715 (GRCm39) |
S936P |
unknown |
Het |
Pkd1 |
T |
C |
17: 24,804,753 (GRCm39) |
I3159T |
possibly damaging |
Het |
Prrt3 |
C |
A |
6: 113,474,788 (GRCm39) |
V145F |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,217,497 (GRCm39) |
V666E |
probably damaging |
Het |
Rapgef2 |
C |
T |
3: 78,974,060 (GRCm39) |
V1577M |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,564 (GRCm39) |
|
probably benign |
Het |
Shoc2 |
T |
A |
19: 54,016,207 (GRCm39) |
L407* |
probably null |
Het |
Slc6a12 |
A |
G |
6: 121,338,029 (GRCm39) |
M435V |
probably benign |
Het |
Smarcc1 |
C |
T |
9: 110,020,002 (GRCm39) |
T623I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,289,517 (GRCm39) |
L245S |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,713 (GRCm39) |
M820K |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
Stoml2 |
C |
A |
4: 43,031,045 (GRCm39) |
V37L |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,704,444 (GRCm39) |
H465Q |
probably benign |
Het |
Tmem164 |
T |
A |
X: 141,589,044 (GRCm39) |
V40D |
possibly damaging |
Het |
Trim37 |
A |
G |
11: 87,075,876 (GRCm39) |
E494G |
probably benign |
Het |
Triobp |
A |
G |
15: 78,845,243 (GRCm39) |
D195G |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,137,837 (GRCm39) |
V2427M |
probably damaging |
Het |
Usp27x |
T |
C |
X: 7,239,780 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
T |
A |
17: 23,177,349 (GRCm39) |
V711D |
probably damaging |
Het |
Zfp940 |
T |
C |
7: 29,546,376 (GRCm39) |
T7A |
probably 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 |
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 |
99,377,241 (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 |
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 |