Incidental Mutation 'RF029:5430401F13Rik'
ID |
604271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5430401F13Rik
|
Ensembl Gene |
ENSMUSG00000094113 |
Gene Name |
RIKEN cDNA 5430401F13 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
RF029 (G1)
|
Quality Score |
148.467 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
131520725-131530720 bp(+) (GRCm39) |
Type of Mutation |
small insertion (9 aa in frame mutation) |
DNA Base Change (assembly) |
GGTGGCCAG to GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG
at 131529858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075020]
[ENSMUST00000161385]
|
AlphaFold |
E9Q328 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075020
|
SMART Domains |
Protein: ENSMUSP00000074539 Gene: ENSMUSG00000094113
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
low complexity region
|
118 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161385
|
SMART Domains |
Protein: ENSMUSP00000125129 Gene: ENSMUSG00000094113
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
low complexity region
|
118 |
166 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 5430401F13Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02737:5430401F13Rik
|
APN |
6 |
131,529,555 (GRCm39) |
missense |
probably benign |
0.14 |
R0866:5430401F13Rik
|
UTSW |
6 |
131,529,742 (GRCm39) |
missense |
unknown |
|
R1674:5430401F13Rik
|
UTSW |
6 |
131,529,766 (GRCm39) |
missense |
unknown |
|
R6374:5430401F13Rik
|
UTSW |
6 |
131,529,892 (GRCm39) |
missense |
unknown |
|
R6671:5430401F13Rik
|
UTSW |
6 |
131,528,313 (GRCm39) |
critical splice donor site |
probably null |
|
R7150:5430401F13Rik
|
UTSW |
6 |
131,529,630 (GRCm39) |
missense |
probably benign |
0.16 |
RF005:5430401F13Rik
|
UTSW |
6 |
131,529,847 (GRCm39) |
small insertion |
probably benign |
|
RF014:5430401F13Rik
|
UTSW |
6 |
131,529,820 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,824 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,822 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,819 (GRCm39) |
small insertion |
probably benign |
|
RF023:5430401F13Rik
|
UTSW |
6 |
131,529,841 (GRCm39) |
small insertion |
probably benign |
|
RF023:5430401F13Rik
|
UTSW |
6 |
131,529,818 (GRCm39) |
small insertion |
probably benign |
|
RF037:5430401F13Rik
|
UTSW |
6 |
131,529,851 (GRCm39) |
small insertion |
probably benign |
|
RF037:5430401F13Rik
|
UTSW |
6 |
131,529,850 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,857 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,855 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,836 (GRCm39) |
small insertion |
probably benign |
|
RF042:5430401F13Rik
|
UTSW |
6 |
131,529,849 (GRCm39) |
small insertion |
probably benign |
|
RF058:5430401F13Rik
|
UTSW |
6 |
131,529,864 (GRCm39) |
small insertion |
probably benign |
|
RF058:5430401F13Rik
|
UTSW |
6 |
131,529,850 (GRCm39) |
small insertion |
probably benign |
|
RF063:5430401F13Rik
|
UTSW |
6 |
131,529,847 (GRCm39) |
small insertion |
probably benign |
|
RF063:5430401F13Rik
|
UTSW |
6 |
131,529,846 (GRCm39) |
small insertion |
probably benign |
|
X0062:5430401F13Rik
|
UTSW |
6 |
131,529,601 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:5430401F13Rik
|
UTSW |
6 |
131,529,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCCAGGATCACCAGAGTG -3'
(R):5'- CACTTGCTGCTGTGAGAAGG -3'
Sequencing Primer
(F):5'- TCCAGGATCACCAGAGTGGAAATG -3'
(R):5'- TTAAATGCTAGGTGGTGAGAATGGC -3'
|
Posted On |
2019-12-04 |