Incidental Mutation 'IGL02615:A430033K04Rik'
| ID |
300639 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
A430033K04Rik
|
| Ensembl Gene |
ENSMUSG00000056014 |
| Gene Name |
RIKEN cDNA A430033K04 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138621121-138647179 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 138644402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 96
(E96*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069862]
[ENSMUST00000198958]
|
| AlphaFold |
E9Q8G5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069862
AA Change: E96*
|
| SMART Domains |
Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: E96*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
76 |
6.23e-34 |
SMART |
|
ZnF_C2H2
|
261 |
280 |
1.01e2 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
2.12e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198958
AA Change: E96*
|
| SMART Domains |
Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: E96*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
76 |
2.7e-36 |
SMART |
|
ZnF_C2H2
|
261 |
280 |
4.2e-1 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
6.4e-6 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.8e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3e-5 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
2.1e-5 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
623 |
643 |
2.7e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in A430033K04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:A430033K04Rik
|
APN |
5 |
138,645,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00336:A430033K04Rik
|
APN |
5 |
138,645,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03354:A430033K04Rik
|
APN |
5 |
138,645,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0172:A430033K04Rik
|
UTSW |
5 |
138,645,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1769:A430033K04Rik
|
UTSW |
5 |
138,644,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4515:A430033K04Rik
|
UTSW |
5 |
138,646,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:A430033K04Rik
|
UTSW |
5 |
138,645,119 (GRCm39) |
nonsense |
probably null |
|
|
R4964:A430033K04Rik
|
UTSW |
5 |
138,645,119 (GRCm39) |
nonsense |
probably null |
|
|
R5389:A430033K04Rik
|
UTSW |
5 |
138,644,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5769:A430033K04Rik
|
UTSW |
5 |
138,644,595 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6128:A430033K04Rik
|
UTSW |
5 |
138,646,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:A430033K04Rik
|
UTSW |
5 |
138,645,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:A430033K04Rik
|
UTSW |
5 |
138,637,831 (GRCm39) |
small deletion |
probably benign |
|
|
R6600:A430033K04Rik
|
UTSW |
5 |
138,645,710 (GRCm39) |
frame shift |
probably null |
|
|
R6774:A430033K04Rik
|
UTSW |
5 |
138,644,712 (GRCm39) |
missense |
probably benign |
|
|
R7098:A430033K04Rik
|
UTSW |
5 |
138,644,784 (GRCm39) |
missense |
probably benign |
|
|
R7217:A430033K04Rik
|
UTSW |
5 |
138,645,188 (GRCm39) |
missense |
probably benign |
|
|
R7269:A430033K04Rik
|
UTSW |
5 |
138,645,014 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7429:A430033K04Rik
|
UTSW |
5 |
138,634,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7442:A430033K04Rik
|
UTSW |
5 |
138,645,509 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7718:A430033K04Rik
|
UTSW |
5 |
138,646,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8007:A430033K04Rik
|
UTSW |
5 |
138,644,901 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8170:A430033K04Rik
|
UTSW |
5 |
138,645,315 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8348:A430033K04Rik
|
UTSW |
5 |
138,634,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:A430033K04Rik
|
UTSW |
5 |
138,645,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8520:A430033K04Rik
|
UTSW |
5 |
138,644,968 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8778:A430033K04Rik
|
UTSW |
5 |
138,645,149 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8858:A430033K04Rik
|
UTSW |
5 |
138,638,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9147:A430033K04Rik
|
UTSW |
5 |
138,644,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9148:A430033K04Rik
|
UTSW |
5 |
138,644,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9418:A430033K04Rik
|
UTSW |
5 |
138,645,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:A430033K04Rik
|
UTSW |
5 |
138,644,793 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9661:A430033K04Rik
|
UTSW |
5 |
138,645,451 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2015-04-16 |
Incidental Mutation