Incidental Mutation 'R8348:Garre1'
| ID |
645363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33984569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 18
(L18Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000206399]
|
| AlphaFold |
Q8C5X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085592
AA Change: L18Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: L18Q
| 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 damaging
Transcript: ENSMUST00000108074
AA Change: L18Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: L18Q
| 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: ENSMUST00000206399
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,022 (GRCm39) |
|
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,616,027 (GRCm39) |
C1030S |
probably damaging |
Het |
| Adamtsl3 |
C |
A |
7: 82,253,007 (GRCm39) |
T1527K |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 3,998,897 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
C |
A |
5: 110,389,909 (GRCm39) |
P457T |
possibly damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,868,007 (GRCm39) |
N91S |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,494,173 (GRCm39) |
Q203K |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,742,137 (GRCm39) |
D61E |
|
Het |
| Bmpr1a |
T |
A |
14: 34,136,759 (GRCm39) |
K477N |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,824,364 (GRCm39) |
I1040V |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,166,955 (GRCm39) |
F304L |
possibly damaging |
Het |
| Cdkn2a |
C |
A |
4: 89,200,291 (GRCm39) |
V20L |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,173 (GRCm39) |
S385G |
probably damaging |
Het |
| Cntrob |
A |
G |
11: 69,190,679 (GRCm39) |
F46L |
unknown |
Het |
| Cth |
T |
C |
3: 157,630,657 (GRCm39) |
D4G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,456,197 (GRCm39) |
H416Y |
probably damaging |
Het |
| Dennd6a |
C |
A |
14: 26,328,098 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,015,682 (GRCm39) |
Y1672C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,814 (GRCm39) |
I800V |
probably benign |
Het |
| Esrp2 |
A |
G |
8: 106,858,853 (GRCm39) |
Y595H |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,566,301 (GRCm39) |
Y497F |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,732,427 (GRCm39) |
T473A |
probably benign |
Het |
| Gm21103 |
C |
A |
14: 17,482,861 (GRCm39) |
R180L |
probably benign |
Het |
| Gstt2 |
C |
A |
10: 75,668,526 (GRCm39) |
R107L |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,319 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
G |
10: 119,938,791 (GRCm39) |
F561S |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,146,249 (GRCm39) |
T120A |
probably benign |
Het |
| Kdm5d |
G |
A |
Y: 914,056 (GRCm39) |
R331H |
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,586,455 (GRCm39) |
Y345H |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,159,825 (GRCm39) |
K418E |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,511,726 (GRCm39) |
T81S |
unknown |
Het |
| Med17 |
C |
T |
9: 15,173,735 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,571,799 (GRCm39) |
I1373F |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,894 (GRCm39) |
Q543L |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,902 (GRCm39) |
T40A |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,292,619 (GRCm39) |
N455S |
probably damaging |
Het |
| Or52k2 |
C |
A |
7: 102,254,207 (GRCm39) |
F215L |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,117,534 (GRCm39) |
F599L |
probably benign |
Het |
| Pga5 |
T |
C |
19: 10,649,173 (GRCm39) |
Y249C |
probably damaging |
Het |
| Plekha8 |
A |
T |
6: 54,607,539 (GRCm39) |
K382M |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,753,149 (GRCm39) |
E119V |
probably damaging |
Het |
| Pnp |
A |
T |
14: 51,185,356 (GRCm39) |
H20L |
probably benign |
Het |
| Polq |
A |
T |
16: 36,837,559 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
G |
12: 71,035,250 (GRCm39) |
I177R |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,240,784 (GRCm39) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,400,806 (GRCm39) |
L1077Q |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,184,573 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,703,653 (GRCm39) |
D186G |
probably damaging |
Het |
| Rpl24 |
T |
C |
16: 55,787,453 (GRCm39) |
S38P |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,885,787 (GRCm39) |
F79L |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,903,041 (GRCm39) |
D1551V |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,741,548 (GRCm39) |
M412I |
probably benign |
Het |
| Spast |
G |
A |
17: 74,666,293 (GRCm39) |
V209I |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,335,769 (GRCm39) |
Q340K |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,185 (GRCm39) |
Y574C |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,791,346 (GRCm39) |
N1748S |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,474 (GRCm39) |
K16N |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,465,095 (GRCm39) |
M77I |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,225,933 (GRCm39) |
D659G |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,656,253 (GRCm39) |
C821S |
probably damaging |
Het |
| Whamm |
T |
A |
7: 81,224,295 (GRCm39) |
V197D |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,006,101 (GRCm39) |
F431S |
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 |
|
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 |
|
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'- CAGGTACTTAGAGATGCCCTGC -3'
(R):5'- ACATGGTCACCTGCCTCATG -3'
Sequencing Primer
(F):5'- ACTTAGAGATGCCCTGCTGGATG -3'
(R):5'- CACCCGTATGTATTGCTG -3'
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| Posted On |
2020-09-02 |
Incidental Mutation