Incidental Mutation 'R7996:Garre1'
| ID |
616086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
046036-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33963024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 216
(T216K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000206399]
|
| AlphaFold |
Q8C5X1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085592
AA Change: T216K
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: T216K
| 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: T216K
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: T216K
| 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 |
possibly damaging
Transcript: ENSMUST00000206399
AA Change: T4K
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
| Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
| Ccne2 |
C |
A |
4: 11,201,347 (GRCm39) |
Q292K |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,459,194 (GRCm39) |
I723T |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
| Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
| Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
| Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
| Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
| Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
| Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
| Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
| Rhot1 |
G |
A |
11: 80,148,363 (GRCm39) |
C601Y |
probably damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
| Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
| Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
| Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
| Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
T |
C |
4: 3,605,842 (GRCm39) |
S786P |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,993,231 (GRCm39) |
Q506L |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
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 |
|
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 |
|
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 |
|
|
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'- TGCCACTGCAGTTTGTTCTC -3'
(R):5'- GCCTAAAATCCCCTTGCTCT -3'
Sequencing Primer
(F):5'- TGCATGCCCTGAGTTCAAG -3'
(R):5'- CTTGCTCTTTTGTTTTCACAGGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation