Incidental Mutation 'R8989:Garre1'
| ID |
684290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
068821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33956869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 332
(Q332R)
|
| 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: Q332R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: Q332R
| 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: Q332R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: Q332R
| 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 damaging
Transcript: ENSMUST00000206399
AA Change: Q120R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,760,724 (GRCm39) |
I1260M |
probably benign |
Het |
| A1cf |
T |
A |
19: 31,904,556 (GRCm39) |
F273Y |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,655,231 (GRCm39) |
W45R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,588,948 (GRCm39) |
E460G |
probably damaging |
Het |
| Ago1 |
T |
A |
4: 126,357,583 (GRCm39) |
T31S |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,298,191 (GRCm39) |
T110S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,927,654 (GRCm39) |
F188S |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,180 (GRCm39) |
P38S |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,499,890 (GRCm39) |
C1000S |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,269 (GRCm39) |
C1132* |
probably null |
Het |
| Atp7b |
A |
T |
8: 22,510,911 (GRCm39) |
S527T |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,025 (GRCm39) |
T763I |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,954,783 (GRCm39) |
L118P |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,696,250 (GRCm39) |
E589G |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,440,015 (GRCm39) |
D630G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,383,458 (GRCm39) |
T447I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,912,059 (GRCm39) |
L1227S |
probably damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,310 (GRCm39) |
E29* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,962,196 (GRCm39) |
Q269L |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fancc |
G |
T |
13: 63,548,090 (GRCm39) |
L70M |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,959,425 (GRCm39) |
M1041K |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,663,446 (GRCm39) |
V1014A |
possibly damaging |
Het |
| Galnt1 |
C |
T |
18: 24,402,567 (GRCm39) |
T308I |
possibly damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,357 (GRCm39) |
V27D |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,536,822 (GRCm39) |
V78A |
probably damaging |
Het |
| Hexd |
T |
A |
11: 121,109,136 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,960 (GRCm39) |
T479A |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,544 (GRCm39) |
D711G |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,912 (GRCm39) |
F61Y |
probably damaging |
Het |
| Insrr |
T |
A |
3: 87,722,664 (GRCm39) |
N1295K |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,209,021 (GRCm39) |
R914W |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,708,660 (GRCm39) |
T113A |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,276,746 (GRCm39) |
D419G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,313,628 (GRCm39) |
T204A |
possibly damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,587 (GRCm39) |
T201A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,548,208 (GRCm39) |
N980K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,464 (GRCm39) |
K352E |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,346 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,542 (GRCm39) |
F257L |
probably benign |
Het |
| Or2d3c |
T |
A |
7: 106,526,366 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,476 (GRCm39) |
T424A |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pramel28 |
C |
A |
4: 143,691,770 (GRCm39) |
A318S |
probably benign |
Het |
| Psma8 |
T |
A |
18: 14,890,404 (GRCm39) |
D181E |
probably benign |
Het |
| Rhpn2 |
C |
A |
7: 35,053,446 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
G |
T |
13: 34,022,967 (GRCm39) |
H139N |
possibly damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,533,642 (GRCm39) |
I394F |
probably damaging |
Het |
| Spmip5 |
T |
C |
19: 58,776,153 (GRCm39) |
E100G |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taok3 |
T |
C |
5: 117,379,227 (GRCm39) |
S421P |
probably benign |
Het |
| Tas2r143 |
T |
G |
6: 42,377,828 (GRCm39) |
D219E |
probably damaging |
Het |
| Tcaf1 |
G |
A |
6: 42,663,707 (GRCm39) |
R58C |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,383 (GRCm39) |
Y2401* |
probably null |
Het |
| Tut1 |
T |
C |
19: 8,937,116 (GRCm39) |
V200A |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,509,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,473 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,134 (GRCm39) |
H19L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,475 (GRCm39) |
M795T |
probably benign |
Het |
| Zc3h12a |
C |
A |
4: 125,014,743 (GRCm39) |
R247L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
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 |
|
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'- AGCCCTTGAGTTTCCTGTAAC -3'
(R):5'- GGCTTCCATCTAAACCCAAAGG -3'
Sequencing Primer
(F):5'- GTAACAGCTCTATTCCAAGTTCATGC -3'
(R):5'- CCAAAGGCCATTGAAGCAAGTTTG -3'
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| Posted On |
2021-10-11 |
Incidental Mutation