Incidental Mutation 'R1348:Garin1a'
| ID |
156557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin1a
|
| Ensembl Gene |
ENSMUSG00000079652 |
| Gene Name |
golgi associated RAB2 interactor 1A |
| Synonyms |
Fam71f2 |
| MMRRC Submission |
039413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29279592-29290679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29283284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 36
(H36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115286]
[ENSMUST00000167131]
[ENSMUST00000167608]
|
| AlphaFold |
B2RXB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115286
AA Change: H94R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110941
Gene: ENSMUSG00000079652
AA Change: H94R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3699
|
105 |
175 |
8.3e-28 |
PFAM |
|
low complexity region
|
188 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167131
AA Change: H36R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132049
Gene: ENSMUSG00000079652
AA Change: H36R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3699
|
46 |
119 |
7.1e-29 |
PFAM |
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167608
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
| Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
| Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
| Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
| Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,066,238 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
| Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Naa15 |
C |
G |
3: 51,373,091 (GRCm39) |
C661W |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,990,880 (GRCm39) |
I9F |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
| Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
| Trp53tg5 |
A |
G |
2: 164,315,521 (GRCm39) |
|
probably null |
Het |
| Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
probably benign |
Het |
|
| Other mutations in Garin1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Garin1a
|
APN |
6 |
29,285,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Garin1a
|
UTSW |
6 |
29,290,489 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0389:Garin1a
|
UTSW |
6 |
29,281,391 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1661:Garin1a
|
UTSW |
6 |
29,285,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Garin1a
|
UTSW |
6 |
29,285,921 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4553:Garin1a
|
UTSW |
6 |
29,287,705 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5197:Garin1a
|
UTSW |
6 |
29,281,221 (GRCm39) |
start gained |
probably benign |
|
|
R5211:Garin1a
|
UTSW |
6 |
29,286,098 (GRCm39) |
nonsense |
probably null |
|
|
R5918:Garin1a
|
UTSW |
6 |
29,285,942 (GRCm39) |
missense |
probably null |
0.99 |
|
R5997:Garin1a
|
UTSW |
6 |
29,290,423 (GRCm39) |
nonsense |
probably null |
|
|
R7316:Garin1a
|
UTSW |
6 |
29,286,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7480:Garin1a
|
UTSW |
6 |
29,281,435 (GRCm39) |
splice site |
probably null |
|
|
R8218:Garin1a
|
UTSW |
6 |
29,286,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTCACCCATCTGAGATGACCC -3'
(R):5'- ACACGAGGTTACGCAAGCAGATTC -3'
Sequencing Primer
(F):5'- ATCTGAGATGACCCTGCCTG -3'
(R):5'- ccaaaaccaaccaaaccaaac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation