Incidental Mutation 'R6444:A430033K04Rik'
| ID |
519124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A430033K04Rik
|
| Ensembl Gene |
ENSMUSG00000056014 |
| Gene Name |
RIKEN cDNA A430033K04 gene |
| Synonyms |
|
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138621121-138647179 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
ACAGAGCAGTGCCTACCAG to ACAG
at 138637831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032590]
[ENSMUST00000069862]
[ENSMUST00000198958]
[ENSMUST00000200521]
|
| AlphaFold |
E9Q8G5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032590
|
| SMART Domains |
Protein: ENSMUSP00000032590
Gene: ENSMUSG00000056014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
KRAB
|
36 |
96 |
6.23e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069862
|
| SMART Domains |
Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
| 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 benign
Transcript: ENSMUST00000198958
|
| SMART Domains |
Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200521
|
| SMART Domains |
Protein: ENSMUSP00000143566
Gene: ENSMUSG00000056014
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
76 |
2.7e-36 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
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 |
|
IGL02615:A430033K04Rik
|
APN |
5 |
138,644,402 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCATTGTGGCAAAGACCC -3'
(R):5'- CCACAGAGCAGTAGAGAGTTTG -3'
Sequencing Primer
(F):5'- CCCTAAAAATAGGACTGTTGTCTCC -3'
(R):5'- TCTACAGATTGAGTTCCAGGACAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation