Incidental Mutation 'R6211:Garre1'
ID |
503456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garre1
|
Ensembl Gene |
ENSMUSG00000066571 |
Gene Name |
granule associated Rac and RHOG effector 1 |
Synonyms |
4931406P16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33938429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1035
(H1035Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
|
AlphaFold |
Q8C5X1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085592
AA Change: H1035Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000082730 Gene: ENSMUSG00000066571 AA Change: H1035Q
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 |
possibly damaging
Transcript: ENSMUST00000108074
AA Change: H1035Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103709 Gene: ENSMUSG00000066571 AA Change: H1035Q
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 |
noncoding transcript
Transcript: ENSMUST00000127010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140881
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206399
AA Change: H823Q
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,881,503 (GRCm39) |
W391R |
probably damaging |
Het |
Arl6ip1 |
A |
T |
7: 117,726,473 (GRCm39) |
S18R |
probably benign |
Het |
Armc3 |
G |
A |
2: 19,301,614 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
G |
T |
10: 41,506,141 (GRCm39) |
S883* |
probably null |
Het |
Cd300lg |
A |
G |
11: 101,944,995 (GRCm39) |
M358V |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,246,600 (GRCm39) |
V949A |
possibly damaging |
Het |
Cenpo |
C |
T |
12: 4,266,733 (GRCm39) |
S126N |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,243,503 (GRCm39) |
D1366E |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,078,248 (GRCm39) |
E169G |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,440 (GRCm39) |
T24A |
possibly damaging |
Het |
Clhc1 |
A |
G |
11: 29,528,145 (GRCm39) |
I558V |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,415,826 (GRCm39) |
R1440S |
probably damaging |
Het |
Cops3 |
A |
G |
11: 59,708,727 (GRCm39) |
|
probably benign |
Het |
Cxcr4 |
A |
G |
1: 128,517,187 (GRCm39) |
V158A |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,458,795 (GRCm39) |
M3781T |
probably damaging |
Het |
Dnai7 |
C |
T |
6: 145,146,217 (GRCm39) |
R95Q |
probably damaging |
Het |
Elovl5 |
C |
A |
9: 77,888,784 (GRCm39) |
T217K |
probably damaging |
Het |
Fbln7 |
G |
T |
2: 128,737,260 (GRCm39) |
M358I |
probably damaging |
Het |
Fbxl13 |
C |
T |
5: 21,689,019 (GRCm39) |
R763Q |
possibly damaging |
Het |
Gabrr3 |
C |
A |
16: 59,268,471 (GRCm39) |
N361K |
probably benign |
Het |
Gbp7 |
A |
G |
3: 142,251,754 (GRCm39) |
M534V |
probably benign |
Het |
Hcar2 |
G |
A |
5: 124,003,017 (GRCm39) |
T162I |
probably benign |
Het |
Hdc |
A |
T |
2: 126,435,897 (GRCm39) |
L658Q |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,955,602 (GRCm39) |
Y1306C |
probably damaging |
Het |
Homer3 |
C |
T |
8: 70,738,174 (GRCm39) |
R49C |
probably damaging |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 87,998,822 (GRCm39) |
N308D |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,198,320 (GRCm39) |
T555M |
probably damaging |
Het |
Lrfn5 |
G |
T |
12: 61,886,256 (GRCm39) |
V15L |
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,952,458 (GRCm39) |
K493E |
possibly damaging |
Het |
Lyzl6 |
A |
G |
11: 103,525,889 (GRCm39) |
I77T |
probably damaging |
Het |
Mavs |
G |
T |
2: 131,082,311 (GRCm39) |
R65L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,696,269 (GRCm39) |
D1217E |
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,647,599 (GRCm39) |
F175I |
possibly damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,954 (GRCm39) |
Y220* |
probably null |
Het |
Or9i1 |
A |
G |
19: 13,839,938 (GRCm39) |
I260M |
probably benign |
Het |
Otof |
C |
A |
5: 30,529,244 (GRCm39) |
V1762L |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,374 (GRCm39) |
L31P |
probably damaging |
Het |
Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
Qrich2 |
A |
T |
11: 116,344,368 (GRCm39) |
D1759E |
probably benign |
Het |
Rps6ka1 |
A |
T |
4: 133,596,617 (GRCm39) |
F33Y |
probably damaging |
Het |
Rxfp2 |
G |
A |
5: 149,967,591 (GRCm39) |
|
probably null |
Het |
Slc23a4 |
A |
T |
6: 34,933,896 (GRCm39) |
I202N |
probably damaging |
Het |
Slc24a5 |
A |
T |
2: 124,930,171 (GRCm39) |
I491F |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,854,775 (GRCm39) |
K625N |
probably benign |
Het |
Snx31 |
A |
G |
15: 36,547,030 (GRCm39) |
V51A |
probably damaging |
Het |
Sox6 |
G |
T |
7: 115,400,697 (GRCm39) |
H48Q |
probably damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,587 (GRCm39) |
Y114* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Timm13 |
A |
C |
10: 80,736,314 (GRCm39) |
|
probably null |
Het |
Tpsb2 |
G |
A |
17: 25,586,737 (GRCm39) |
A250T |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,760,492 (GRCm39) |
I131T |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,976,554 (GRCm39) |
|
probably null |
Het |
Vmn2r35 |
T |
A |
7: 7,789,527 (GRCm39) |
I737F |
probably damaging |
Het |
Wdr46 |
C |
A |
17: 34,163,459 (GRCm39) |
T339K |
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 |
R6059:Garre1
|
UTSW |
7 |
33,944,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- ACAGGGTGTACTGGTCCTTC -3'
(R):5'- TCTTCTGTTTCCCAGGATAACAAAACC -3'
Sequencing Primer
(F):5'- CCTTCTGGGGGCTAGTATCAGC -3'
(R):5'- ATGGCAGCACCCTTCCC -3'
|
Posted On |
2018-02-27 |