Incidental Mutation 'IGL02929:Garre1'
| ID |
364006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33944507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 75
(M75K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
|
| AlphaFold |
Q8C5X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085592
AA Change: M791K
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: M791K
| 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 benign
Transcript: ENSMUST00000108074
AA Change: M791K
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: M791K
| 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 |
possibly damaging
Transcript: ENSMUST00000205264
AA Change: M75K
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206399
AA Change: M579K
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
| Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
| Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
| Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
| Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
| Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
| Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
| Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
| Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
| Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
| Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
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 |
|
|
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 |
33,953,416 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5688:Garre1
|
UTSW |
7 |
33,984,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation