Incidental Mutation 'IGL02735:A930011G23Rik'
ID |
305603 |
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 # |
IGL02735
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
A |
T |
2: 150,480,387 (GRCm39) |
V228E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,992,693 (GRCm39) |
M145K |
probably damaging |
Het |
Ankhd1 |
G |
A |
18: 36,781,599 (GRCm39) |
S2217N |
probably benign |
Het |
Asph |
T |
A |
4: 9,598,759 (GRCm39) |
D211V |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,413 (GRCm39) |
W379R |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,730,950 (GRCm39) |
T201A |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,783,898 (GRCm39) |
L1008P |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,853,522 (GRCm39) |
I363V |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,961,804 (GRCm39) |
F1058L |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,522,583 (GRCm39) |
M3439K |
probably benign |
Het |
Ift140 |
C |
A |
17: 25,253,009 (GRCm39) |
|
probably benign |
Het |
Itgad |
A |
G |
7: 127,792,888 (GRCm39) |
Y832C |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,833 (GRCm39) |
D265E |
possibly damaging |
Het |
Kif19a |
A |
T |
11: 114,676,393 (GRCm39) |
E449V |
probably damaging |
Het |
Krt40 |
T |
C |
11: 99,429,461 (GRCm39) |
E291G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,980,124 (GRCm39) |
N1897S |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,639,835 (GRCm39) |
Y767C |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 80,786,031 (GRCm39) |
H546R |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,486,266 (GRCm39) |
S362P |
probably benign |
Het |
Med12l |
A |
G |
3: 59,001,067 (GRCm39) |
Y734C |
probably damaging |
Het |
Mrps18a |
C |
T |
17: 46,433,725 (GRCm39) |
R74C |
probably damaging |
Het |
Mvk |
A |
G |
5: 114,588,880 (GRCm39) |
E174G |
probably benign |
Het |
Naip2 |
A |
G |
13: 100,296,722 (GRCm39) |
S1105P |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,624 (GRCm39) |
M468V |
probably benign |
Het |
Obscn |
T |
C |
11: 58,984,175 (GRCm39) |
E1760G |
probably damaging |
Het |
Pcsk5 |
C |
A |
19: 17,652,832 (GRCm39) |
G285W |
probably damaging |
Het |
Pgpep1l |
A |
G |
7: 67,886,721 (GRCm39) |
I196T |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,987,611 (GRCm39) |
M630T |
probably benign |
Het |
Plod2 |
T |
C |
9: 92,477,442 (GRCm39) |
|
probably benign |
Het |
Poldip2 |
G |
A |
11: 78,403,162 (GRCm39) |
A9T |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,703,396 (GRCm39) |
S718P |
probably damaging |
Het |
Pramel34 |
G |
A |
5: 93,786,503 (GRCm39) |
P89S |
possibly damaging |
Het |
Ptpre |
A |
T |
7: 135,269,296 (GRCm39) |
Y246F |
probably damaging |
Het |
Pudp |
T |
C |
18: 50,701,403 (GRCm39) |
H110R |
probably benign |
Het |
Scaf4 |
C |
T |
16: 90,042,403 (GRCm39) |
G646E |
unknown |
Het |
Sec16a |
T |
A |
2: 26,318,149 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,070,116 (GRCm39) |
T338A |
probably benign |
Het |
Shisa5 |
T |
G |
9: 108,885,080 (GRCm39) |
F118V |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,936,061 (GRCm39) |
|
probably benign |
Het |
Sprtn |
T |
A |
8: 125,630,126 (GRCm39) |
V473E |
probably benign |
Het |
Styxl1 |
A |
G |
5: 135,787,996 (GRCm39) |
I165T |
probably damaging |
Het |
Tal2 |
T |
A |
4: 53,785,906 (GRCm39) |
I29N |
probably damaging |
Het |
Tas2r134 |
T |
C |
2: 51,517,839 (GRCm39) |
I106T |
probably damaging |
Het |
Tmem259 |
G |
A |
10: 79,814,973 (GRCm39) |
T217I |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,655,339 (GRCm39) |
I723T |
probably damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,418 (GRCm39) |
V83D |
probably damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,510 (GRCm39) |
M761I |
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,160 (GRCm39) |
I14N |
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 |
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 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:A930011G23Rik
|
APN |
5 |
99,377,241 (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 |
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 |