Incidental Mutation 'R6477:Garre1'
| ID |
516839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
044609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 33957055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000206399]
|
| AlphaFold |
Q8C5X1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085592
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
| 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: ENSMUST00000205581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206399
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,696 (GRCm39) |
D23G |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,924,325 (GRCm39) |
I1659T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,409,494 (GRCm39) |
V481M |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Cfap161 |
T |
A |
7: 83,443,230 (GRCm39) |
R20* |
probably null |
Het |
| Cops7a |
A |
T |
6: 124,937,139 (GRCm39) |
V184E |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,293,739 (GRCm39) |
E83G |
possibly damaging |
Het |
| Crls1 |
C |
T |
2: 132,703,153 (GRCm39) |
S201L |
probably benign |
Het |
| Cyp4f39 |
C |
A |
17: 32,700,791 (GRCm39) |
S153R |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,759,843 (GRCm39) |
I410N |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,302,274 (GRCm39) |
T1877S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,796 (GRCm39) |
S1079G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,327,093 (GRCm39) |
V681I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,247,809 (GRCm39) |
|
probably null |
Het |
| Eya2 |
A |
G |
2: 165,605,681 (GRCm39) |
T362A |
probably benign |
Het |
| Hgs |
G |
A |
11: 120,360,481 (GRCm39) |
V60M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,571,343 (GRCm39) |
|
probably null |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Kdr |
C |
A |
5: 76,129,501 (GRCm39) |
A129S |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,049,801 (GRCm39) |
M575K |
probably damaging |
Het |
| Lsamp |
G |
T |
16: 41,988,528 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
C |
8: 75,839,230 (GRCm39) |
V161A |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,675,115 (GRCm39) |
H249L |
probably damaging |
Het |
| Mroh5 |
A |
G |
15: 73,662,604 (GRCm39) |
S405P |
probably damaging |
Het |
| Mroh9 |
C |
A |
1: 162,903,873 (GRCm39) |
L46F |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,718,192 (GRCm39) |
H357Q |
probably damaging |
Het |
| Myrf |
G |
A |
19: 10,206,149 (GRCm39) |
P89L |
probably benign |
Het |
| Mzb1 |
C |
T |
18: 35,781,311 (GRCm39) |
|
probably null |
Het |
| Naip6 |
A |
G |
13: 100,452,516 (GRCm39) |
S182P |
probably damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,417 (GRCm39) |
F276Y |
probably damaging |
Het |
| Nudt12 |
G |
T |
17: 59,318,140 (GRCm39) |
S35Y |
probably benign |
Het |
| Or51h5 |
T |
A |
7: 102,577,585 (GRCm39) |
V250E |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,284,886 (GRCm39) |
S2P |
probably benign |
Het |
| Or9m1 |
A |
G |
2: 87,733,334 (GRCm39) |
S229P |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,318 (GRCm39) |
I541V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,884,694 (GRCm39) |
K1258E |
probably benign |
Het |
| Plcxd2 |
C |
G |
16: 45,801,022 (GRCm39) |
K67N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,586,627 (GRCm39) |
T930A |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,138,728 (GRCm39) |
|
probably null |
Het |
| Ppp1r14bl |
A |
T |
1: 23,140,861 (GRCm39) |
L151Q |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,340,946 (GRCm39) |
Y426C |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,263,235 (GRCm39) |
T83A |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,466,383 (GRCm39) |
V915E |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,345,408 (GRCm39) |
D10E |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,890,350 (GRCm39) |
E121G |
probably damaging |
Het |
| Senp6 |
A |
T |
9: 80,000,907 (GRCm39) |
R39* |
probably null |
Het |
| Sergef |
A |
T |
7: 46,283,250 (GRCm39) |
I94N |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,485,867 (GRCm39) |
R183W |
probably benign |
Het |
| Smurf1 |
C |
T |
5: 144,826,602 (GRCm39) |
R414H |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,653,166 (GRCm39) |
W1566R |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,901,334 (GRCm39) |
|
probably null |
Het |
| Tnni1 |
T |
C |
1: 135,733,304 (GRCm39) |
V42A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,938,513 (GRCm39) |
Y3098C |
probably damaging |
Het |
| Ubald2 |
T |
C |
11: 116,325,400 (GRCm39) |
F46L |
probably benign |
Het |
| Ubqln5 |
G |
A |
7: 103,777,465 (GRCm39) |
S453F |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,809,773 (GRCm39) |
R1248* |
probably null |
Het |
| Utp20 |
A |
G |
10: 88,604,780 (GRCm39) |
V1705A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,449,228 (GRCm39) |
R632H |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,942,560 (GRCm39) |
Y957C |
probably damaging |
Het |
| Zfp825 |
A |
T |
13: 74,629,029 (GRCm39) |
S162R |
possibly damaging |
Het |
| Zfp831 |
A |
C |
2: 174,545,960 (GRCm39) |
K1355T |
probably benign |
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 |
|
|
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'- TCCTATCTGCACAGGAACCG -3'
(R):5'- TCCTCAAGTCTCAATAACTGTAGG -3'
Sequencing Primer
(F):5'- TCACACTGCATGGGCTG -3'
(R):5'- TCCCCACAACTGTAGAAATGTTAAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation