Incidental Mutation 'IGL02421:A930011G23Rik'
ID |
292658 |
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 # |
IGL02421
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,672 (GRCm39) |
F117S |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,361,939 (GRCm39) |
T1394A |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,380 (GRCm39) |
N671S |
probably damaging |
Het |
Akap13 |
A |
T |
7: 75,367,554 (GRCm39) |
N1815I |
possibly damaging |
Het |
Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
Ap1g2 |
G |
A |
14: 55,339,859 (GRCm39) |
A440V |
probably damaging |
Het |
Bmt2 |
G |
T |
6: 13,628,841 (GRCm39) |
Q281K |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,717,662 (GRCm39) |
F2243L |
probably damaging |
Het |
Cenpb |
G |
A |
2: 131,021,601 (GRCm39) |
R66C |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,694,541 (GRCm39) |
H1121L |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,306,148 (GRCm39) |
Y344C |
probably damaging |
Het |
Cspg5 |
T |
A |
9: 110,076,460 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,150,637 (GRCm39) |
N374D |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,550,215 (GRCm39) |
V3368A |
possibly damaging |
Het |
Eml4 |
T |
C |
17: 83,785,321 (GRCm39) |
S829P |
probably benign |
Het |
Got2-ps1 |
T |
C |
5: 138,362,811 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
T |
C |
10: 93,339,335 (GRCm39) |
C475R |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,850,136 (GRCm39) |
P806S |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,806 (GRCm39) |
T88S |
probably benign |
Het |
Napsa |
A |
G |
7: 44,234,479 (GRCm39) |
H237R |
probably damaging |
Het |
Opn5 |
C |
T |
17: 42,907,446 (GRCm39) |
|
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,256,017 (GRCm39) |
I174T |
probably damaging |
Het |
Or4c110 |
T |
C |
2: 88,831,688 (GRCm39) |
|
probably null |
Het |
Or51f2 |
T |
C |
7: 102,526,966 (GRCm39) |
I213T |
probably damaging |
Het |
Or56b2 |
A |
G |
7: 104,337,740 (GRCm39) |
N173D |
probably benign |
Het |
Pira12 |
T |
C |
7: 3,899,994 (GRCm39) |
N203D |
possibly damaging |
Het |
Polb |
C |
T |
8: 23,130,389 (GRCm39) |
G179D |
probably damaging |
Het |
Primpol |
G |
T |
8: 47,060,830 (GRCm39) |
|
probably benign |
Het |
Prom2 |
T |
A |
2: 127,373,802 (GRCm39) |
|
probably null |
Het |
Psmb10 |
A |
G |
8: 106,664,124 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
G |
10: 58,316,376 (GRCm39) |
S2365R |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,694,187 (GRCm39) |
|
probably benign |
Het |
Slc25a34 |
A |
G |
4: 141,348,753 (GRCm39) |
V237A |
probably benign |
Het |
Slc39a2 |
A |
T |
14: 52,131,329 (GRCm39) |
T25S |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,550,535 (GRCm39) |
C423R |
probably damaging |
Het |
Stt3b |
G |
A |
9: 115,080,920 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
A |
T |
3: 22,257,327 (GRCm39) |
I397F |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,343,591 (GRCm39) |
V117A |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,271,952 (GRCm39) |
F1035L |
probably benign |
Het |
Trhde |
T |
A |
10: 114,248,366 (GRCm39) |
K944N |
probably damaging |
Het |
Vmn1r54 |
G |
A |
6: 90,246,133 (GRCm39) |
A16T |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,415,414 (GRCm39) |
N801K |
probably damaging |
Het |
Xylt2 |
A |
G |
11: 94,558,588 (GRCm39) |
Y523H |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,902,000 (GRCm39) |
R5G |
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 |
99,377,236 (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 |
2015-04-16 |