Incidental Mutation 'R0928:Garre1'
| ID |
80640 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0928 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 33947671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000085592]
[ENSMUST00000105172]
[ENSMUST00000108074]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
[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: 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 benign
Transcript: ENSMUST00000105172
|
| SMART Domains |
Protein: ENSMUSP00000100805
Gene: ENSMUSG00000078380
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L23eN
|
13 |
62 |
1.1e-20 |
PFAM |
|
Pfam:Ribosomal_L23
|
70 |
142 |
6.2e-16 |
PFAM |
|
| 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 |
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 |
probably benign
Transcript: ENSMUST00000205264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206399
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207005
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
| Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
| Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
| Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,663,663 (GRCm39) |
D745G |
possibly damaging |
Het |
| Daam2 |
T |
C |
17: 49,795,255 (GRCm39) |
I313V |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
| En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
| Eps15 |
T |
C |
4: 109,170,160 (GRCm39) |
V154A |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
| Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
| Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,777 (GRCm39) |
Y152C |
probably damaging |
Het |
| Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
| Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
| Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
| Mmut |
T |
C |
17: 41,248,174 (GRCm39) |
I67T |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
| Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
| P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
| Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
| Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,775 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTAAGTGCAGGAGACACCAAC -3'
(R):5'- AGCTTGGTCCTACTGAGAAACCCG -3'
Sequencing Primer
(F):5'- GAGACACCAACCTCCCTGTTC -3'
(R):5'- tgctttggctgtcctatgatac -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation