Incidental Mutation 'RF037:5430401F13Rik'
| ID |
604625 |
| 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 # |
RF037 (G1)
|
| Quality Score |
172.468 |
|
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) |
AAGGAAAAGGTGGCCAG to AAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG
at 131529850 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: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
TGTC |
T |
17: 36,274,080 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
GAGG |
GAGGCAGAGGCTTAGG |
10: 81,479,407 (GRCm39) |
|
probably null |
Het |
| Ckap2l |
TGCA |
T |
2: 129,112,569 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGAGGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTA |
GGGGCGGAGCACAGTTCCTATCTCGTATTGTGGGCGGAGCACAGTTCCTA |
9: 20,821,415 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
TCGTT |
TCGTTTTGGGGGCTGAGCACAGTTCCTACCGCGTT |
9: 20,821,437 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TTCCTACCTCGTT |
TTCCTACCTCGTTTTGGGGGCGGAGCATAGGTCCTACCTCGTT |
9: 20,821,429 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
ACTG |
A |
11: 21,956,783 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
TCCTAAAAAAACAAAAC |
TC |
11: 29,702,549 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
G |
GCGTGTGCTAGTA |
5: 110,526,017 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTC |
CTCCGGGTC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTG |
GTGGGTATG |
19: 11,489,146 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTTGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
ACAG |
ACAGCCCCAG |
1: 83,019,866 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACAGCCACCCCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
C |
CCGCTGCTGCCAT |
3: 92,925,607 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
14: 75,184,989 (GRCm39) |
|
probably benign |
Het |
| Map1a |
AGCTCCAGCTCCAGCTCCAGCTCCA |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,775 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGG |
TGGGGACTTGGACTCCCCGGGGGACTTGG |
11: 4,891,046 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TTGGCCTCAGCTGGGGACTTGGCCTCA |
TTGGCCTCAGCTGGAGACTTGGCCTCAGCTGGGGACTTGGCCTCA |
11: 4,890,999 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGC |
TGGCGTCACCTGGGGACTGGGC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCAGTGAGGAGCAAGCTGAGA |
AGCAGTGAGGAGCAAGCTGAGATACACGTTCGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,070 (GRCm39) |
|
probably benign |
Het |
| Or4k41 |
G |
A |
2: 111,279,896 (GRCm39) |
G137D |
not run |
Het |
| Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AAGATG |
AAGATGCTGACAACAGAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ATG |
ATGCTGACAACAAAGCTG |
17: 24,164,361 (GRCm39) |
|
probably benign |
Het |
| Six5 |
CGGA |
C |
7: 18,828,725 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CAAGGCCAG |
CAAGGCCAGCGATCCTCCCCAGTCCCGAAAGGCCAG |
5: 77,164,268 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGGGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,280,628 (GRCm39) |
R73Q |
possibly damaging |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAATAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably null |
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 |
|
|
RF029:5430401F13Rik
|
UTSW |
6 |
131,529,858 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:5430401F13Rik
|
UTSW |
6 |
131,529,851 (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'- AGAATGGCCCACGTAGTAGAC -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'
Sequencing Primer
(F):5'- CTCTGATGATGACAACTTGGAAGTCC -3'
(R):5'- TTAAATGCTAGGTGGTGAGAATGGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation