Incidental Mutation 'IGL02473:A930011G23Rik'
ID |
294812 |
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 # |
IGL02473
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99370854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 468
(Y468C)
|
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: Y382C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: Y382C
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: Y340C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: Y340C
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: Y381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: Y381C
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: Y468C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
G |
A |
5: 48,545,440 (GRCm39) |
|
probably benign |
Het |
9030624G23Rik |
A |
G |
12: 24,094,853 (GRCm39) |
F106S |
probably benign |
Het |
Abcd3 |
T |
C |
3: 121,562,893 (GRCm39) |
T515A |
possibly damaging |
Het |
Acrbp |
A |
G |
6: 125,031,661 (GRCm39) |
T321A |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,141 (GRCm39) |
Y398C |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,790,407 (GRCm39) |
D602V |
probably benign |
Het |
Ccdc191 |
T |
C |
16: 43,777,257 (GRCm39) |
V714A |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntn2 |
A |
G |
1: 132,446,069 (GRCm39) |
L839P |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,377,304 (GRCm39) |
I428V |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,273,353 (GRCm39) |
T2494S |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,519,104 (GRCm39) |
Y348* |
probably null |
Het |
Dnajb3 |
C |
A |
1: 88,133,104 (GRCm39) |
E99D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,071,163 (GRCm39) |
F411L |
probably benign |
Het |
L3mbtl4 |
A |
T |
17: 68,866,772 (GRCm39) |
Y337F |
possibly damaging |
Het |
Lias |
A |
G |
5: 65,562,745 (GRCm39) |
T258A |
possibly damaging |
Het |
Lipk |
T |
A |
19: 34,016,548 (GRCm39) |
C254S |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,297 (GRCm39) |
L596S |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,597,385 (GRCm39) |
E703G |
possibly damaging |
Het |
Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,640 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4b1b |
T |
C |
2: 90,112,040 (GRCm39) |
K293R |
probably null |
Het |
Pcgf2 |
A |
G |
11: 97,582,747 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,638,805 (GRCm39) |
|
probably null |
Het |
Rnf111 |
A |
G |
9: 70,348,140 (GRCm39) |
V810A |
probably damaging |
Het |
Rpl23a-ps1 |
A |
T |
1: 46,020,951 (GRCm39) |
|
noncoding transcript |
Het |
Smc3 |
C |
A |
19: 53,624,879 (GRCm39) |
A779E |
probably benign |
Het |
Smtn |
C |
T |
11: 3,482,463 (GRCm39) |
G140D |
probably damaging |
Het |
Son |
T |
C |
16: 91,455,683 (GRCm39) |
S1477P |
probably damaging |
Het |
Strn |
T |
C |
17: 78,991,722 (GRCm39) |
D20G |
possibly damaging |
Het |
Tektl1 |
A |
T |
10: 78,586,428 (GRCm39) |
S208T |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,936,736 (GRCm39) |
L2798P |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,775,896 (GRCm39) |
N1715K |
probably damaging |
Het |
Vps33a |
A |
T |
5: 123,707,634 (GRCm39) |
I111N |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zscan4d |
A |
T |
7: 10,896,336 (GRCm39) |
C345S |
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 |
99,377,241 (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 |
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 |