Incidental Mutation 'IGL00848:A930011G23Rik'
ID |
13762 |
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 # |
IGL00848
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99370237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 508
(F508L)
|
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: F422L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031276 Gene: ENSMUSG00000089809 AA Change: F422L
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: F380L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128947 Gene: ENSMUSG00000089809 AA Change: F380L
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168092
AA Change: F421L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129652 Gene: ENSMUSG00000089809 AA Change: F421L
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: F508L
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
C |
T |
5: 50,159,291 (GRCm39) |
G320R |
probably damaging |
Het |
Arhgef40 |
G |
A |
14: 52,224,884 (GRCm39) |
V10M |
probably damaging |
Het |
Birc6 |
C |
T |
17: 75,003,388 (GRCm39) |
Q4739* |
probably null |
Het |
Cdcp3 |
A |
G |
7: 130,848,453 (GRCm39) |
E869G |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,861,981 (GRCm39) |
H54Y |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,362,886 (GRCm39) |
D202G |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,758,970 (GRCm39) |
T27S |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Copa |
T |
A |
1: 171,938,255 (GRCm39) |
C523S |
possibly damaging |
Het |
Copz1 |
T |
A |
15: 103,207,176 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
A |
C |
10: 43,843,814 (GRCm39) |
|
probably null |
Het |
Cyp3a11 |
A |
T |
5: 145,799,275 (GRCm39) |
I304N |
probably damaging |
Het |
Eif2d |
C |
T |
1: 131,092,173 (GRCm39) |
Q315* |
probably null |
Het |
Fgfr4 |
A |
G |
13: 55,306,983 (GRCm39) |
E224G |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,505,658 (GRCm39) |
L870Q |
probably damaging |
Het |
Glt8d2 |
C |
T |
10: 82,497,999 (GRCm39) |
|
probably null |
Het |
Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,230,204 (GRCm39) |
K147N |
unknown |
Het |
Kbtbd3 |
T |
A |
9: 4,331,184 (GRCm39) |
S519R |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,976,624 (GRCm39) |
I221T |
probably benign |
Het |
Khdrbs2 |
C |
T |
1: 32,511,833 (GRCm39) |
A266V |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,113,216 (GRCm39) |
E1312G |
probably benign |
Het |
Mos |
T |
C |
4: 3,871,459 (GRCm39) |
N119S |
probably damaging |
Het |
Mtpap |
C |
T |
18: 4,380,717 (GRCm39) |
H132Y |
probably benign |
Het |
Myo18b |
G |
A |
5: 113,019,351 (GRCm39) |
T642I |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,196,463 (GRCm39) |
E1303G |
probably benign |
Het |
Napepld |
A |
T |
5: 21,888,191 (GRCm39) |
M86K |
probably benign |
Het |
Nvl |
T |
A |
1: 180,932,690 (GRCm39) |
D709V |
probably damaging |
Het |
Pak1ip1 |
A |
T |
13: 41,166,099 (GRCm39) |
E341D |
probably benign |
Het |
Pgghg |
G |
A |
7: 140,522,317 (GRCm39) |
G32D |
probably damaging |
Het |
Phlpp1 |
G |
A |
1: 106,303,985 (GRCm39) |
R1096H |
probably damaging |
Het |
Phlpp1 |
C |
T |
1: 106,267,178 (GRCm39) |
T697M |
probably damaging |
Het |
Piwil4 |
T |
G |
9: 14,638,707 (GRCm39) |
T273P |
probably damaging |
Het |
Pkd2l1 |
A |
T |
19: 44,180,718 (GRCm39) |
|
probably benign |
Het |
Polr3b |
A |
G |
10: 84,516,241 (GRCm39) |
D623G |
probably damaging |
Het |
Pop1 |
A |
G |
15: 34,508,875 (GRCm39) |
T317A |
probably benign |
Het |
Prune2 |
A |
T |
19: 17,096,482 (GRCm39) |
K662I |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,589 (GRCm39) |
I356V |
probably benign |
Het |
Rhbdd1 |
T |
C |
1: 82,318,165 (GRCm39) |
L16P |
possibly damaging |
Het |
Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
Sfxn2 |
A |
T |
19: 46,578,596 (GRCm39) |
I204F |
probably damaging |
Het |
Slc26a9 |
C |
T |
1: 131,685,266 (GRCm39) |
S365F |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,193,059 (GRCm39) |
V565M |
probably benign |
Het |
Spns1 |
T |
C |
7: 125,970,414 (GRCm39) |
|
probably null |
Het |
Stk3 |
T |
A |
15: 35,114,768 (GRCm39) |
E48V |
possibly damaging |
Het |
Svs3b |
T |
C |
2: 164,098,021 (GRCm39) |
E100G |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,952,942 (GRCm39) |
Q1464R |
probably benign |
Het |
Tspan10 |
T |
C |
11: 120,335,096 (GRCm39) |
S69P |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,942,007 (GRCm39) |
|
probably benign |
Het |
Vps45 |
G |
T |
3: 95,964,285 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,343,208 (GRCm39) |
N1790K |
probably damaging |
Het |
Zfp704 |
A |
T |
3: 9,630,299 (GRCm39) |
S21T |
possibly 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 |
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 |
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 |
2012-12-06 |