Incidental Mutation 'RF034:Garin5a'
| ID |
604488 |
| 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 # |
RF034 (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) |
GGGTCTGAGGGAGGA to GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA
at 44149947 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: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
| Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
CACTCATGGTCCTGTAGAGCAATGGGGATTC |
CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,771 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATGGTCCTGTAGAGCAATGGGGATTC |
ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,776 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
AGC |
AGCTGGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (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 |
|
|
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 |
44,149,957 (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'- CCTGGGCTAACAATATCAGCC -3'
Sequencing Primer
(F):5'- CTTCACGCACGAGGACACTG -3'
(R):5'- GCCACACAGTCCCTAGTCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation