Incidental Mutation 'R5714:Garre1'
ID |
451049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garre1
|
Ensembl Gene |
ENSMUSG00000066571 |
Gene Name |
granule associated Rac and RHOG effector 1 |
Synonyms |
4931406P16Rik |
MMRRC Submission |
043186-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 33939941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 717
(Q717*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
|
AlphaFold |
Q8C5X1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085592
AA Change: Q929*
|
SMART Domains |
Protein: ENSMUSP00000082730 Gene: ENSMUSG00000066571 AA Change: Q929*
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 null
Transcript: ENSMUST00000108074
AA Change: Q929*
|
SMART Domains |
Protein: ENSMUSP00000103709 Gene: ENSMUSG00000066571 AA Change: Q929*
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 |
probably null
Transcript: ENSMUST00000205264
AA Change: Q211*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206399
AA Change: Q717*
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
Mios |
T |
A |
6: 8,215,434 (GRCm39) |
I210K |
probably damaging |
Het |
Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
Rars2 |
T |
A |
4: 34,645,779 (GRCm39) |
M232K |
probably benign |
Het |
Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
Slc27a6 |
A |
T |
18: 58,731,625 (GRCm39) |
E325V |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Srd5a3 |
T |
A |
5: 76,301,413 (GRCm39) |
F214Y |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
Zfp457 |
C |
A |
13: 67,444,490 (GRCm39) |
M4I |
possibly damaging |
Het |
Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
possibly 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 |
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 |
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'- TAAGACCGGTGTCCCACTAG -3'
(R):5'- ATCAGTCACGGGCTTCAGAG -3'
Sequencing Primer
(F):5'- AGCCCAGCACAGATTTTCTTC -3'
(R):5'- GAGGGATAAAAAGTAGTGACTCTTTC -3'
|
Posted On |
2017-01-03 |