Incidental Mutation 'R6059:Garre1'
ID |
483122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garre1
|
Ensembl Gene |
ENSMUSG00000066571 |
Gene Name |
granule associated Rac and RHOG effector 1 |
Synonyms |
4931406P16Rik |
MMRRC Submission |
044225-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6059 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33944888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 452
(A452V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
|
AlphaFold |
Q8C5X1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085592
AA Change: A664V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000082730 Gene: ENSMUSG00000066571 AA Change: A664V
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
Pfam:DUF4745
|
59 |
187 |
1.3e-57 |
PFAM |
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
low complexity region
|
592 |
602 |
N/A |
INTRINSIC |
low complexity region
|
677 |
696 |
N/A |
INTRINSIC |
low complexity region
|
699 |
729 |
N/A |
INTRINSIC |
low complexity region
|
771 |
786 |
N/A |
INTRINSIC |
low complexity region
|
856 |
868 |
N/A |
INTRINSIC |
low complexity region
|
890 |
913 |
N/A |
INTRINSIC |
low complexity region
|
940 |
951 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108074
AA Change: A664V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103709 Gene: ENSMUSG00000066571 AA Change: A664V
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
low complexity region
|
592 |
602 |
N/A |
INTRINSIC |
low complexity region
|
677 |
696 |
N/A |
INTRINSIC |
low complexity region
|
699 |
729 |
N/A |
INTRINSIC |
low complexity region
|
771 |
786 |
N/A |
INTRINSIC |
low complexity region
|
856 |
868 |
N/A |
INTRINSIC |
low complexity region
|
890 |
913 |
N/A |
INTRINSIC |
low complexity region
|
940 |
951 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206399
AA Change: A452V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207005
|
Meta Mutation Damage Score |
0.0703 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
95% (54/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
C |
A |
17: 48,400,847 (GRCm39) |
T44K |
probably benign |
Het |
Ablim2 |
A |
G |
5: 36,014,508 (GRCm39) |
D189G |
probably benign |
Het |
Abo |
A |
G |
2: 26,733,365 (GRCm39) |
V278A |
possibly damaging |
Het |
Anxa1 |
A |
G |
19: 20,355,064 (GRCm39) |
F237L |
possibly damaging |
Het |
Atp11b |
A |
G |
3: 35,868,326 (GRCm39) |
Y466C |
possibly damaging |
Het |
Cfh |
T |
A |
1: 140,046,428 (GRCm39) |
K531N |
possibly damaging |
Het |
Cgref1 |
G |
T |
5: 31,102,728 (GRCm39) |
P31Q |
probably damaging |
Het |
Clca3a2 |
G |
A |
3: 144,516,531 (GRCm39) |
A355V |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,620,707 (GRCm39) |
C929S |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,661,116 (GRCm39) |
V331D |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,295,301 (GRCm39) |
V469E |
possibly damaging |
Het |
Dchs2 |
A |
G |
3: 83,263,043 (GRCm39) |
S3104G |
probably benign |
Het |
Ddx24 |
G |
T |
12: 103,374,559 (GRCm39) |
A875E |
probably damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,299 (GRCm39) |
N51K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,927,595 (GRCm39) |
I4788T |
probably benign |
Het |
Epb41l3 |
C |
T |
17: 69,593,793 (GRCm39) |
T537I |
probably damaging |
Het |
Epb41l3 |
A |
G |
17: 69,591,637 (GRCm39) |
E708G |
probably damaging |
Het |
Fam162b |
A |
T |
10: 51,466,403 (GRCm39) |
C39S |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,253,687 (GRCm39) |
I531T |
probably damaging |
Het |
Glipr1l2 |
T |
C |
10: 111,919,423 (GRCm39) |
V48A |
probably benign |
Het |
Gorasp1 |
A |
G |
9: 119,759,072 (GRCm39) |
V177A |
probably damaging |
Het |
Gys1 |
A |
G |
7: 45,104,712 (GRCm39) |
|
probably null |
Het |
Hif1a |
T |
A |
12: 73,988,574 (GRCm39) |
V523E |
probably damaging |
Het |
Hnrnph3 |
A |
T |
10: 62,854,641 (GRCm39) |
|
probably benign |
Het |
Lcn9 |
C |
A |
2: 25,714,737 (GRCm39) |
L159I |
possibly damaging |
Het |
Luzp1 |
C |
T |
4: 136,268,791 (GRCm39) |
A338V |
probably benign |
Het |
Map3k10 |
A |
T |
7: 27,356,247 (GRCm39) |
S891T |
probably damaging |
Het |
Mmrn2 |
C |
T |
14: 34,119,548 (GRCm39) |
Q97* |
probably null |
Het |
Mov10 |
G |
A |
3: 104,725,266 (GRCm39) |
|
probably benign |
Het |
Ncam1 |
A |
C |
9: 49,455,966 (GRCm39) |
Y551D |
probably damaging |
Het |
Ncf1 |
A |
T |
5: 134,252,341 (GRCm39) |
Y237N |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,325,052 (GRCm39) |
I2537N |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,107,836 (GRCm39) |
V555E |
possibly damaging |
Het |
Nod2 |
T |
C |
8: 89,391,042 (GRCm39) |
Y428H |
probably damaging |
Het |
Nup133 |
C |
A |
8: 124,641,335 (GRCm39) |
A862S |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,823,078 (GRCm39) |
L23* |
probably null |
Het |
Pclo |
A |
G |
5: 14,861,714 (GRCm39) |
E4889G |
unknown |
Het |
Plcd3 |
T |
A |
11: 102,971,227 (GRCm39) |
I110F |
possibly damaging |
Het |
Plxna2 |
C |
A |
1: 194,493,279 (GRCm39) |
N1851K |
possibly damaging |
Het |
Ppp2r5c |
C |
A |
12: 110,541,222 (GRCm39) |
A457E |
probably benign |
Het |
Ppp5c |
C |
T |
7: 16,761,832 (GRCm39) |
|
probably benign |
Het |
Pramel25 |
T |
G |
4: 143,520,550 (GRCm39) |
S101A |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,325,748 (GRCm39) |
Y1009F |
possibly damaging |
Het |
Rcor3 |
A |
T |
1: 191,804,240 (GRCm39) |
M303K |
probably benign |
Het |
Rrn3 |
G |
A |
16: 13,624,468 (GRCm39) |
M433I |
probably benign |
Het |
Serpinb9e |
G |
A |
13: 33,441,757 (GRCm39) |
V230M |
probably benign |
Het |
Shisa6 |
T |
A |
11: 66,115,800 (GRCm39) |
H279L |
probably damaging |
Het |
Slc38a11 |
A |
T |
2: 65,165,089 (GRCm39) |
I234N |
probably damaging |
Het |
Socs1 |
G |
C |
16: 10,602,394 (GRCm39) |
F114L |
probably damaging |
Het |
Ssc5d |
C |
T |
7: 4,945,743 (GRCm39) |
T925M |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,269,887 (GRCm39) |
S156P |
probably damaging |
Het |
Ttc5 |
C |
G |
14: 51,015,303 (GRCm39) |
V103L |
probably damaging |
Het |
Vmn1r73 |
A |
G |
7: 11,490,538 (GRCm39) |
T119A |
probably benign |
Het |
Vmn2r99 |
G |
A |
17: 19,599,242 (GRCm39) |
D309N |
probably benign |
Het |
Vps53 |
T |
C |
11: 75,957,693 (GRCm39) |
H353R |
possibly damaging |
Het |
Ythdf3 |
T |
A |
3: 16,257,356 (GRCm39) |
Y47* |
probably null |
Het |
Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
probably damaging |
Het |
|
Other mutations in Garre1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Garre1
|
APN |
7 |
33,945,412 (GRCm39) |
splice site |
probably benign |
|
IGL00160:Garre1
|
APN |
7 |
33,938,431 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00691:Garre1
|
APN |
7 |
33,944,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01312:Garre1
|
APN |
7 |
33,955,933 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01954:Garre1
|
APN |
7 |
33,944,460 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02016:Garre1
|
APN |
7 |
33,938,526 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02390:Garre1
|
APN |
7 |
33,947,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02407:Garre1
|
APN |
7 |
33,955,909 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02677:Garre1
|
APN |
7 |
33,941,834 (GRCm39) |
splice site |
probably benign |
|
IGL02929:Garre1
|
APN |
7 |
33,944,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03285:Garre1
|
APN |
7 |
33,984,416 (GRCm39) |
missense |
possibly damaging |
0.81 |
I1329:Garre1
|
UTSW |
7 |
33,944,619 (GRCm39) |
missense |
probably benign |
0.00 |
R0004:Garre1
|
UTSW |
7 |
33,955,853 (GRCm39) |
missense |
probably damaging |
0.99 |
R0100:Garre1
|
UTSW |
7 |
33,953,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0100:Garre1
|
UTSW |
7 |
33,953,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0135:Garre1
|
UTSW |
7 |
33,945,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0137:Garre1
|
UTSW |
7 |
33,938,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R0556:Garre1
|
UTSW |
7 |
33,939,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R0687:Garre1
|
UTSW |
7 |
33,944,843 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0928:Garre1
|
UTSW |
7 |
33,947,671 (GRCm39) |
splice site |
probably null |
|
R1719:Garre1
|
UTSW |
7 |
33,947,631 (GRCm39) |
missense |
probably damaging |
0.98 |
R1908:Garre1
|
UTSW |
7 |
33,957,461 (GRCm39) |
missense |
probably benign |
0.14 |
R1909:Garre1
|
UTSW |
7 |
33,957,461 (GRCm39) |
missense |
probably benign |
0.14 |
R1976:Garre1
|
UTSW |
7 |
33,956,805 (GRCm39) |
missense |
probably damaging |
0.99 |
R2496:Garre1
|
UTSW |
7 |
33,955,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3005:Garre1
|
UTSW |
7 |
33,984,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Garre1
|
UTSW |
7 |
33,984,198 (GRCm39) |
missense |
probably damaging |
0.98 |
R4832:Garre1
|
UTSW |
7 |
33,938,333 (GRCm39) |
utr 3 prime |
probably benign |
|
R4870:Garre1
|
UTSW |
7 |
33,984,312 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4989:Garre1
|
UTSW |
7 |
33,945,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R5033:Garre1
|
UTSW |
7 |
33,945,237 (GRCm39) |
missense |
probably benign |
|
R5308:Garre1
|
UTSW |
7 |
33,945,180 (GRCm39) |
nonsense |
probably null |
|
R5366:Garre1
|
UTSW |
7 |
33,941,713 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5386:Garre1
|
UTSW |
7 |
33,941,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R5688:Garre1
|
UTSW |
7 |
33,984,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R5688:Garre1
|
UTSW |
7 |
33,953,416 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5714:Garre1
|
UTSW |
7 |
33,939,941 (GRCm39) |
nonsense |
probably null |
|
R5733:Garre1
|
UTSW |
7 |
33,944,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R5772:Garre1
|
UTSW |
7 |
33,953,413 (GRCm39) |
missense |
probably damaging |
0.97 |
R6211:Garre1
|
UTSW |
7 |
33,938,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6276:Garre1
|
UTSW |
7 |
33,941,802 (GRCm39) |
nonsense |
probably null |
|
R6477:Garre1
|
UTSW |
7 |
33,957,055 (GRCm39) |
critical splice donor site |
probably null |
|
R6757:Garre1
|
UTSW |
7 |
33,938,502 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6912:Garre1
|
UTSW |
7 |
33,945,093 (GRCm39) |
missense |
probably benign |
|
R7156:Garre1
|
UTSW |
7 |
33,945,133 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7317:Garre1
|
UTSW |
7 |
33,963,072 (GRCm39) |
missense |
probably benign |
|
R7431:Garre1
|
UTSW |
7 |
33,984,219 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7452:Garre1
|
UTSW |
7 |
33,945,096 (GRCm39) |
missense |
probably benign |
|
R7996:Garre1
|
UTSW |
7 |
33,963,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8348:Garre1
|
UTSW |
7 |
33,984,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Garre1
|
UTSW |
7 |
33,984,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R8989:Garre1
|
UTSW |
7 |
33,956,869 (GRCm39) |
missense |
probably damaging |
0.99 |
R9010:Garre1
|
UTSW |
7 |
33,938,491 (GRCm39) |
missense |
probably benign |
0.01 |
R9095:Garre1
|
UTSW |
7 |
33,956,770 (GRCm39) |
critical splice donor site |
probably null |
|
R9505:Garre1
|
UTSW |
7 |
33,984,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Garre1
|
UTSW |
7 |
33,963,069 (GRCm39) |
missense |
probably benign |
0.01 |
R9612:Garre1
|
UTSW |
7 |
33,947,656 (GRCm39) |
missense |
probably damaging |
1.00 |
RF019:Garre1
|
UTSW |
7 |
33,939,974 (GRCm39) |
missense |
probably damaging |
0.98 |
X0021:Garre1
|
UTSW |
7 |
33,944,788 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Garre1
|
UTSW |
7 |
33,984,180 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1186:Garre1
|
UTSW |
7 |
33,945,185 (GRCm39) |
missense |
probably benign |
|
Z1186:Garre1
|
UTSW |
7 |
33,938,583 (GRCm39) |
missense |
probably benign |
0.03 |
Z1186:Garre1
|
UTSW |
7 |
33,938,533 (GRCm39) |
missense |
probably benign |
|
Z1191:Garre1
|
UTSW |
7 |
33,945,185 (GRCm39) |
missense |
probably benign |
|
Z1191:Garre1
|
UTSW |
7 |
33,938,583 (GRCm39) |
missense |
probably benign |
0.03 |
Z1191:Garre1
|
UTSW |
7 |
33,938,533 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGCTGTGATCCAATGGG -3'
(R):5'- CAATGGTCAATGGCTTTCTCC -3'
Sequencing Primer
(F):5'- TCCAATGGGTTGCAGCAG -3'
(R):5'- CTCCTGGAGAGACGTGAGAACTTC -3'
|
Posted On |
2017-07-14 |