Incidental Mutation 'R6399:A430033K04Rik'
| ID |
516097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A430033K04Rik
|
| Ensembl Gene |
ENSMUSG00000056014 |
| Gene Name |
RIKEN cDNA A430033K04 gene |
| Synonyms |
|
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138621121-138647179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138645821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 569
(C569R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069862]
[ENSMUST00000198958]
|
| AlphaFold |
E9Q8G5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069862
AA Change: C569R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: C569R
| 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 damaging
Transcript: ENSMUST00000198958
AA Change: C569R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: C569R
| 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 |
|
| Meta Mutation Damage Score |
0.2694 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACGTTTCAAGCCCCACG -3'
(R):5'- CATTCGTAGGCTCTCTCACCAG -3'
Sequencing Primer
(F):5'- ATGCAGGAAAGCCTTCTGTC -3'
(R):5'- CACCAGTGTGAGTTGTCTCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation