Incidental Mutation 'RF057:Garin5a'
ID |
605304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garin5a
|
Ensembl Gene |
ENSMUSG00000051113 |
Gene Name |
golgi associated RAB2 interactor 5A |
Synonyms |
1700021P22Rik, Fam71e1, 0610007G24Rik, 1700021N13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
RF057 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44146005-44150910 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GGAGGA to GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA
at 44149956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107927]
[ENSMUST00000118515]
[ENSMUST00000118808]
[ENSMUST00000138328]
[ENSMUST00000165208]
[ENSMUST00000205359]
[ENSMUST00000205422]
[ENSMUST00000206398]
|
AlphaFold |
A1L3C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107927
|
SMART Domains |
Protein: ENSMUSP00000103560 Gene: ENSMUSG00000051113
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
91 |
160 |
5.6e-20 |
PFAM |
coiled coil region
|
164 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118515
|
SMART Domains |
Protein: ENSMUSP00000113141 Gene: ENSMUSG00000008140
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
low complexity region
|
239 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118808
|
SMART Domains |
Protein: ENSMUSP00000113509 Gene: ENSMUSG00000008140
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
low complexity region
|
246 |
255 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138328
|
SMART Domains |
Protein: ENSMUSP00000116293 Gene: ENSMUSG00000008140
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165208
|
SMART Domains |
Protein: ENSMUSP00000130127 Gene: ENSMUSG00000038670
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
IG
|
54 |
150 |
6.26e-5 |
SMART |
PDB:2LHU|A
|
160 |
236 |
7e-9 |
PDB |
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
IG
|
258 |
337 |
5.21e-2 |
SMART |
IG
|
347 |
430 |
1.2e-1 |
SMART |
IG
|
440 |
526 |
2.72e-5 |
SMART |
IG
|
546 |
631 |
1.68e-5 |
SMART |
FN3
|
634 |
717 |
3.29e-11 |
SMART |
FN3
|
732 |
815 |
1.23e-10 |
SMART |
IG
|
842 |
925 |
6.07e-3 |
SMART |
FN3
|
928 |
1010 |
2.08e-8 |
SMART |
IGc2
|
1055 |
1122 |
6.91e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205359
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205422
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206398
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030445D17Rik |
GCACATGCACACACA |
GCACA |
4: 136,189,617 (GRCm39) |
|
probably null |
Het |
Alpk3 |
AAGGCACCGAC |
A |
7: 80,742,165 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
CGGC |
CGGCGGTGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CGCCG |
CGCCGAAGCCG |
4: 141,602,080 (GRCm39) |
|
probably benign |
Het |
Eps8 |
CGCTC |
CGCTCGCTC |
6: 137,494,062 (GRCm39) |
|
probably benign |
Het |
Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
CCCCA |
CCCCATCCCA |
9: 75,295,540 (GRCm39) |
|
probably null |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GTCAGGCAGTGA |
GTCAGGCAGTGACTCAGGCAGTGA |
19: 42,064,545 (GRCm39) |
|
probably null |
Het |
Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGGTTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Het |
Prp2 |
CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA |
C |
6: 132,577,493 (GRCm39) |
|
probably null |
Het |
Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTTCCCAGAGATCCCCTTGGC |
TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC |
18: 60,966,636 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TCCCAGAGATCCCCTTGGC |
TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
CAGAAT |
CAGAATCACCTCCCGTGGGCTTGCGAGAAT |
6: 72,593,052 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,144 (GRCm39) |
|
probably benign |
Het |
Ttn |
ACCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTC |
2: 76,673,734 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
CCCAGGCCCAGGG |
6: 125,013,459 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Garin5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1355:Garin5a
|
UTSW |
7 |
44,146,115 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5308:Garin5a
|
UTSW |
7 |
44,149,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Garin5a
|
UTSW |
7 |
44,150,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R6038:Garin5a
|
UTSW |
7 |
44,149,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Garin5a
|
UTSW |
7 |
44,149,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R8136:Garin5a
|
UTSW |
7 |
44,149,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R8994:Garin5a
|
UTSW |
7 |
44,146,342 (GRCm39) |
missense |
probably benign |
0.09 |
R9716:Garin5a
|
UTSW |
7 |
44,150,405 (GRCm39) |
missense |
probably damaging |
1.00 |
RF002:Garin5a
|
UTSW |
7 |
44,149,944 (GRCm39) |
nonsense |
probably null |
|
RF003:Garin5a
|
UTSW |
7 |
44,149,951 (GRCm39) |
frame shift |
probably null |
|
RF013:Garin5a
|
UTSW |
7 |
44,149,944 (GRCm39) |
frame shift |
probably null |
|
RF015:Garin5a
|
UTSW |
7 |
44,149,946 (GRCm39) |
frame shift |
probably null |
|
RF017:Garin5a
|
UTSW |
7 |
44,149,955 (GRCm39) |
frame shift |
probably null |
|
RF017:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
RF020:Garin5a
|
UTSW |
7 |
44,149,959 (GRCm39) |
frame shift |
probably null |
|
RF034:Garin5a
|
UTSW |
7 |
44,149,947 (GRCm39) |
frame shift |
probably null |
|
RF038:Garin5a
|
UTSW |
7 |
44,149,946 (GRCm39) |
frame shift |
probably null |
|
RF040:Garin5a
|
UTSW |
7 |
44,149,955 (GRCm39) |
frame shift |
probably null |
|
RF040:Garin5a
|
UTSW |
7 |
44,149,945 (GRCm39) |
frame shift |
probably null |
|
RF045:Garin5a
|
UTSW |
7 |
44,149,956 (GRCm39) |
frame shift |
probably null |
|
RF047:Garin5a
|
UTSW |
7 |
44,149,960 (GRCm39) |
frame shift |
probably null |
|
RF047:Garin5a
|
UTSW |
7 |
44,149,953 (GRCm39) |
frame shift |
probably null |
|
RF050:Garin5a
|
UTSW |
7 |
44,149,945 (GRCm39) |
frame shift |
probably null |
|
RF051:Garin5a
|
UTSW |
7 |
44,149,947 (GRCm39) |
frame shift |
probably null |
|
RF055:Garin5a
|
UTSW |
7 |
44,149,957 (GRCm39) |
nonsense |
probably null |
|
RF056:Garin5a
|
UTSW |
7 |
44,149,951 (GRCm39) |
frame shift |
probably null |
|
RF060:Garin5a
|
UTSW |
7 |
44,149,957 (GRCm39) |
nonsense |
probably null |
|
RF060:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTCTACTTGCAACTGCG -3'
(R):5'- TGGGCTAACAATATCAGCCAC -3'
Sequencing Primer
(F):5'- TTCACGCACGAGGACACTG -3'
(R):5'- CACAGTCCCTAGTCTGCTGCAG -3'
|
Posted On |
2019-12-04 |