Incidental Mutation 'R4305:Garin1b'
| ID |
323994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin1b
|
| Ensembl Gene |
ENSMUSG00000039742 |
| Gene Name |
golgi associated RAB2 interactor 1B |
| Synonyms |
LOC330277, Fam71f1 |
| MMRRC Submission |
041091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29319139-29336018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29326611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 243
(S243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090487]
[ENSMUST00000163229]
[ENSMUST00000164560]
[ENSMUST00000166462]
|
| AlphaFold |
Q3UZD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090487
AA Change: S243G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: S243G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
136 |
210 |
5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163229
|
| SMART Domains |
Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164560
AA Change: S243G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: S243G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
137 |
208 |
7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166462
AA Change: S243G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: S243G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
136 |
210 |
3.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171782
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (36/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Abl2 |
T |
A |
1: 156,469,133 (GRCm39) |
M695K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,391,991 (GRCm39) |
M93T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,211,633 (GRCm39) |
V98A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,639,118 (GRCm39) |
Y372N |
probably benign |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,346,883 (GRCm39) |
|
probably null |
Het |
| Gart |
T |
C |
16: 91,430,880 (GRCm39) |
E394G |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lpar6 |
G |
A |
14: 73,476,381 (GRCm39) |
R114Q |
probably damaging |
Het |
| Med23 |
G |
T |
10: 24,780,168 (GRCm39) |
E573* |
probably null |
Het |
| Mtch2 |
A |
G |
2: 90,689,827 (GRCm39) |
I183V |
probably benign |
Het |
| Nlrp3 |
C |
T |
11: 59,438,836 (GRCm39) |
R138* |
probably null |
Het |
| Notch1 |
T |
C |
2: 26,367,936 (GRCm39) |
D657G |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,643 (GRCm39) |
D293G |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,681 (GRCm39) |
S4123G |
probably benign |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,360 (GRCm39) |
S170R |
possibly damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,974,976 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,027,172 (GRCm39) |
T808A |
probably damaging |
Het |
| Zdhhc4 |
C |
T |
5: 143,310,099 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Garin1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Garin1b
|
APN |
6 |
29,320,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02342:Garin1b
|
APN |
6 |
29,323,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0402:Garin1b
|
UTSW |
6 |
29,323,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Garin1b
|
UTSW |
6 |
29,326,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Garin1b
|
UTSW |
6 |
29,326,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1773:Garin1b
|
UTSW |
6 |
29,334,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1950:Garin1b
|
UTSW |
6 |
29,335,815 (GRCm39) |
splice site |
probably null |
|
|
R4259:Garin1b
|
UTSW |
6 |
29,320,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Garin1b
|
UTSW |
6 |
29,320,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Garin1b
|
UTSW |
6 |
29,323,764 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5014:Garin1b
|
UTSW |
6 |
29,326,723 (GRCm39) |
intron |
probably benign |
|
|
R5249:Garin1b
|
UTSW |
6 |
29,323,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Garin1b
|
UTSW |
6 |
29,319,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Garin1b
|
UTSW |
6 |
29,319,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6456:Garin1b
|
UTSW |
6 |
29,334,045 (GRCm39) |
missense |
probably benign |
|
|
R6949:Garin1b
|
UTSW |
6 |
29,323,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Garin1b
|
UTSW |
6 |
29,323,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7562:Garin1b
|
UTSW |
6 |
29,323,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:Garin1b
|
UTSW |
6 |
29,334,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Garin1b
|
UTSW |
6 |
29,323,902 (GRCm39) |
missense |
probably benign |
0.27 |
|
X0065:Garin1b
|
UTSW |
6 |
29,326,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGAGAGACTTGTATGGC -3'
(R):5'- TATGGCAATGACACCAGGTAC -3'
Sequencing Primer
(F):5'- AGAGACTTGTATGGCTGCCTATTG -3'
(R):5'- GTATATCACATCCCTAACCGTGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation