Incidental Mutation 'R4555:A830005F24Rik'
| ID |
341846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A830005F24Rik
|
| Ensembl Gene |
ENSMUSG00000053181 |
| Gene Name |
RIKEN cDNA A830005F24 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
48667046-48668315 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 48667937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065465]
[ENSMUST00000176176]
[ENSMUST00000176949]
[ENSMUST00000176996]
[ENSMUST00000177530]
|
| AlphaFold |
Q8BRT5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000065465
AA Change: F80L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176176
|
| SMART Domains |
Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176949
|
| SMART Domains |
Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176996
|
| SMART Domains |
Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177530
|
| SMART Domains |
Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
5.5e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
| Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
| Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
| Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
| Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
| Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
Het |
|
| Other mutations in A830005F24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:A830005F24Rik
|
UTSW |
13 |
48,667,848 (GRCm39) |
unclassified |
probably benign |
|
|
R4556:A830005F24Rik
|
UTSW |
13 |
48,667,937 (GRCm39) |
unclassified |
probably benign |
|
|
R4557:A830005F24Rik
|
UTSW |
13 |
48,667,937 (GRCm39) |
unclassified |
probably benign |
|
|
R8310:A830005F24Rik
|
UTSW |
13 |
48,667,727 (GRCm39) |
missense |
unknown |
|
|
R9776:A830005F24Rik
|
UTSW |
13 |
48,667,758 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAGTGAGCAGCGAACTC -3'
(R):5'- TTCCTAGGTGAAACAAGAAAGGCTC -3'
Sequencing Primer
(F):5'- GAACTCCCCTGGTGAGAAAC -3'
(R):5'- CTTGTCTTCCTATCAAGATGAAACC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation