Incidental Mutation 'RF046:4930505A04Rik'
| ID |
605029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930505A04Rik
|
| Ensembl Gene |
ENSMUSG00000040919 |
| Gene Name |
RIKEN cDNA 4930505A04 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF046 (G1)
|
| Quality Score |
109.457 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30376006-30421827 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTTT to TTTTT
at 30376249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041763]
[ENSMUST00000152718]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152718
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
CGGCGG |
CGGCGGGGGCGG |
18: 36,693,979 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
AATAAAGCGC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGC |
GGCCGC |
17: 5,045,865 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
G |
GTTCCCT |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
CTTTGCT |
C |
19: 56,532,564 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CATC |
CATCATC |
2: 130,612,654 (GRCm39) |
|
probably null |
Het |
| Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
CGCCGCCGCCA |
C |
2: 151,384,618 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAATCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
GGTGT |
GGTGTGGGGAGGCTACGTACTCACCCACTCCTTGTGT |
17: 23,981,148 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTGTCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
19: 4,374,535 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCT |
GCTCCCACCCCTTCT |
3: 92,925,600 (GRCm39) |
|
probably benign |
Het |
| Lcmt1 |
GGC |
GGCCGCGGGGCGC |
7: 122,969,057 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGGAGCAAGCTGAGA |
GAGGAGCAAGCTGAGATACACGTTAGCAGTTAGGAGCAAGCTGAGA |
2: 119,458,076 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTTTTTTT |
15: 44,421,891 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Pnma8a |
TA |
TAACTCATGATGCTCCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCAC |
17: 37,275,949 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,694,345 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
C |
CAGCGGG |
8: 85,682,808 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CGATCCTCCCCAGTCCCGCAAGGCCAG |
CGATCCTCCCCAGTCCCGCAAGGCCAGGGATCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,250 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
TCCTGTGAGGCCCTCTGCTGC |
TC |
2: 121,046,482 (GRCm39) |
|
probably null |
Het |
| Tusc1 |
CCGCCA |
CCGCCAACGCCA |
4: 93,223,539 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
TGACCTGTTCTTCACTTAC |
TGACCTGTTCTTCACTTACTCATGCGACCTGTTCTTCACTTAC |
9: 44,000,408 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 4930505A04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:4930505A04Rik
|
APN |
11 |
30,404,843 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01545:4930505A04Rik
|
APN |
11 |
30,376,228 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0400:4930505A04Rik
|
UTSW |
11 |
30,376,360 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1029:4930505A04Rik
|
UTSW |
11 |
30,396,389 (GRCm39) |
splice site |
probably benign |
|
|
R1029:4930505A04Rik
|
UTSW |
11 |
30,376,177 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1585:4930505A04Rik
|
UTSW |
11 |
30,377,175 (GRCm39) |
splice site |
probably benign |
|
|
R4708:4930505A04Rik
|
UTSW |
11 |
30,404,717 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4993:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4994:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4995:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4996:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5187:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5189:4930505A04Rik
|
UTSW |
11 |
30,376,169 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5330:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5333:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5448:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5449:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5450:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5475:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5477:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5665:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5823:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5832:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5833:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5835:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5873:4930505A04Rik
|
UTSW |
11 |
30,376,220 (GRCm39) |
nonsense |
probably null |
|
|
R6032:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6032:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6037:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6037:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6058:4930505A04Rik
|
UTSW |
11 |
30,376,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6224:4930505A04Rik
|
UTSW |
11 |
30,404,815 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8394:4930505A04Rik
|
UTSW |
11 |
30,404,880 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8536:4930505A04Rik
|
UTSW |
11 |
30,376,217 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9149:4930505A04Rik
|
UTSW |
11 |
30,396,304 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9765:4930505A04Rik
|
UTSW |
11 |
30,404,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGGTGAGAAGAGCTTG -3'
(R):5'- GTTCCATCCCCAGAACTTGAAC -3'
Sequencing Primer
(F):5'- AAGAGCTTGCCCTCCAGTTGAG -3'
(R):5'- TTGAACAACCCCATACACTCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation