Incidental Mutation 'IGL03139:A930011G23Rik'
ID |
410653 |
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 # |
IGL03139
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99391067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 97
(F97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
AlphaFold |
Q8JZL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031276
AA Change: F11L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: F11L
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: F11L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: F11L
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168092
AA Change: F11L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: F11L
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
157 |
2.8e-4 |
SMART |
RasGEF
|
200 |
453 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209346
AA Change: F97L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,764,145 (GRCm39) |
Y928C |
probably benign |
Het |
Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,052,994 (GRCm38) |
V144A |
probably damaging |
Het |
Baiap2l2 |
T |
A |
15: 79,155,753 (GRCm39) |
N107I |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,924 (GRCm39) |
K657E |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,961,547 (GRCm39) |
|
probably null |
Het |
Cma2 |
A |
G |
14: 56,211,256 (GRCm39) |
I183V |
probably damaging |
Het |
Col18a1 |
C |
A |
10: 76,949,177 (GRCm39) |
A112S |
possibly damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,446 (GRCm39) |
D100G |
possibly damaging |
Het |
Defb29 |
T |
C |
2: 152,380,812 (GRCm39) |
K66E |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,219,232 (GRCm39) |
D566V |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,832,955 (GRCm39) |
R161L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,836,422 (GRCm39) |
L436F |
probably benign |
Het |
Fip1l1 |
A |
G |
5: 74,731,776 (GRCm39) |
I254V |
possibly damaging |
Het |
Gid8 |
C |
A |
2: 180,356,501 (GRCm39) |
A46E |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,618,649 (GRCm39) |
Q398K |
probably damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
T |
C |
18: 60,379,221 (GRCm39) |
V252A |
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,784,480 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,145,683 (GRCm39) |
S166P |
probably damaging |
Het |
Map2k6 |
A |
T |
11: 110,387,299 (GRCm39) |
|
probably benign |
Het |
Mmab |
A |
G |
5: 114,571,405 (GRCm39) |
L157P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,953,324 (GRCm39) |
E535V |
probably damaging |
Het |
Mup4 |
T |
C |
4: 59,958,482 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,997,221 (GRCm39) |
S820P |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,517 (GRCm39) |
K188E |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,242,222 (GRCm39) |
I963V |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,590,049 (GRCm39) |
|
probably null |
Het |
Plscr1 |
T |
C |
9: 92,148,438 (GRCm39) |
|
probably benign |
Het |
Prss36 |
C |
T |
7: 127,532,783 (GRCm39) |
G202E |
probably damaging |
Het |
Psen2 |
A |
T |
1: 180,068,350 (GRCm39) |
V101E |
probably damaging |
Het |
Saxo1 |
T |
C |
4: 86,405,999 (GRCm39) |
M67V |
possibly damaging |
Het |
Sfrp4 |
G |
A |
13: 19,807,728 (GRCm39) |
M42I |
probably damaging |
Het |
Strn3 |
C |
A |
12: 51,699,633 (GRCm39) |
|
probably benign |
Het |
Tgfb1i1 |
C |
A |
7: 127,848,476 (GRCm39) |
P197Q |
possibly damaging |
Het |
Thsd4 |
A |
G |
9: 59,904,456 (GRCm39) |
V580A |
probably benign |
Het |
Tjp1 |
C |
A |
7: 64,990,182 (GRCm39) |
|
probably benign |
Het |
Tprn |
C |
T |
2: 25,154,066 (GRCm39) |
A456V |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,945,727 (GRCm39) |
Y763H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,601,507 (GRCm39) |
T18686A |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,332,722 (GRCm39) |
T71S |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,831,742 (GRCm39) |
Y349F |
probably benign |
Het |
Zbtb41 |
A |
G |
1: 139,351,576 (GRCm39) |
T230A |
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 |
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 |
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 |
2016-08-02 |