Incidental Mutation 'R1355:Garin5a'
| ID |
156279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5a
|
| Ensembl Gene |
ENSMUSG00000051113 |
| Gene Name |
golgi associated RAB2 interactor 5A |
| Synonyms |
1700021P22Rik, Fam71e1, 0610007G24Rik, 1700021N13Rik |
| MMRRC Submission |
039420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1355 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44146005-44150910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44146115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 2
(K2E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107927]
[ENSMUST00000118515]
[ENSMUST00000118808]
[ENSMUST00000138328]
[ENSMUST00000205359]
[ENSMUST00000205422]
[ENSMUST00000206398]
|
| AlphaFold |
A1L3C1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107927
AA Change: K2E
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113
AA Change: K2E
| 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 |
noncoding transcript
Transcript: ENSMUST00000123928
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000147102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150342
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205359
AA Change: K2E
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205422
AA Change: K2E
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206398
AA Change: K2E
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205847
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
| B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
| Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
| Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
| Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
| Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
| Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
| Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
| H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
| Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
| Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
T |
10: 29,023,318 (GRCm39) |
T222S |
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
| Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
| Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
| Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
| Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
| Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
| Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
| Uckl1 |
G |
T |
2: 181,215,169 (GRCm39) |
T213K |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Garin5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
44,149,957 (GRCm39) |
nonsense |
probably null |
|
|
RF060:Garin5a
|
UTSW |
7 |
44,149,949 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACAGGGTTCATCCTGAGGCTCAC -3'
(R):5'- TTTCAAAGATGGGAAAGTCGCGCAG -3'
Sequencing Primer
(F):5'- AGTCAGGGCGGCCATTTC -3'
(R):5'- TGCCAGGTACATGAACTCTGAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation