Incidental Mutation 'RF060:Garin5a'
| ID |
605382 |
| 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 # |
RF060 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44146005-44150910 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
GAGGA to GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA
at 44149957 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: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTG |
GCTGTGGCTTCTG |
1: 82,891,308 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGATGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
G |
GTGGCGC |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGCAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
ATTTATTTAT |
ATTTATTTATTTCTTTATTTAT |
9: 78,619,807 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGTT |
CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT |
9: 20,821,438 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GC |
GCCGCAAC |
2: 83,643,221 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCCTC |
X: 74,043,619 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,608 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
TGTAGT |
TGT |
6: 130,252,784 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA |
GAGGAGGA |
4: 98,625,031 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCC |
GACTTGGCCCCACCTGGGTACTTGGCC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CT |
CTGGGCTTCACCTGGGGATT |
11: 4,891,052 (GRCm39) |
|
probably benign |
Het |
| Pdk1 |
CTGGCCT |
C |
2: 71,703,789 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
TCTCTCTCTCTCTCTCC |
10: 84,694,358 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
CTCGCT |
CTCGCTGTCGCT |
4: 34,049,841 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCAAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
| St3gal5 |
G |
GCACTC |
6: 72,074,836 (GRCm39) |
|
probably null |
Het |
| Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
C |
CAGT |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TTTGTTT |
TTTGTTTGCTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
G |
GAAACAGCAA |
8: 109,682,720 (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 |
|
|
RF057:Garin5a
|
UTSW |
7 |
44,149,956 (GRCm39) |
frame shift |
probably null |
|
|
RF060:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCCTTCTACTTGCAACTG -3'
(R):5'- ACCTGGGCTAACAATATCAGC -3'
Sequencing Primer
(F):5'- TTCACGCACGAGGACACTG -3'
(R):5'- GCCACACAGTCCCTAGTCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation