Incidental Mutation 'R4870:Garre1'
| ID |
376500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
042480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33984312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 104
(V104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000206399]
|
| AlphaFold |
Q8C5X1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085592
AA Change: V104L
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: V104L
| 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 |
possibly damaging
Transcript: ENSMUST00000108074
AA Change: V104L
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: V104L
| 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: ENSMUST00000132975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206399
|
| Meta Mutation Damage Score |
0.0973 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,069,540 (GRCm39) |
I1285N |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,756,683 (GRCm39) |
R721* |
probably null |
Het |
| Alox8 |
T |
C |
11: 69,077,394 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,399,344 (GRCm39) |
|
probably null |
Het |
| Cdc14a |
A |
G |
3: 116,217,109 (GRCm39) |
I9T |
probably benign |
Het |
| Ceacam18 |
T |
C |
7: 43,291,328 (GRCm39) |
C257R |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,980 (GRCm39) |
V1025A |
probably damaging |
Het |
| Clcn7 |
G |
T |
17: 25,372,539 (GRCm39) |
|
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,874,014 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,995 (GRCm39) |
S285P |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
| Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc14 |
T |
C |
10: 128,653,219 (GRCm39) |
V684A |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,512,284 (GRCm39) |
Q335R |
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,229,117 (GRCm39) |
C772S |
unknown |
Het |
| F2rl1 |
A |
T |
13: 95,650,492 (GRCm39) |
F130Y |
probably damaging |
Het |
| Galk2 |
C |
G |
2: 125,771,557 (GRCm39) |
S194* |
probably null |
Het |
| Gpbp1l1 |
A |
G |
4: 116,430,714 (GRCm39) |
T62A |
probably benign |
Het |
| H2-Q10 |
A |
T |
17: 35,781,357 (GRCm39) |
D53V |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,349,924 (GRCm39) |
K356R |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,718,911 (GRCm39) |
V956M |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,443 (GRCm39) |
T239A |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,444,806 (GRCm39) |
|
probably benign |
Het |
| Kcng2 |
A |
G |
18: 80,366,083 (GRCm39) |
C90R |
probably benign |
Het |
| Kif3c |
C |
T |
12: 3,451,735 (GRCm39) |
P171S |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,911,994 (GRCm39) |
T1704A |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,581,549 (GRCm39) |
Y778C |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,050,215 (GRCm39) |
M1V |
probably null |
Het |
| Mcm10 |
A |
T |
2: 5,008,970 (GRCm39) |
I333N |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,040,329 (GRCm39) |
L283* |
probably null |
Het |
| Mixl1 |
A |
G |
1: 180,522,237 (GRCm39) |
S215P |
probably benign |
Het |
| Mmp21 |
A |
G |
7: 133,280,406 (GRCm39) |
L188P |
probably damaging |
Het |
| Mob1a |
T |
C |
6: 83,317,221 (GRCm39) |
S213P |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ndufaf6 |
T |
C |
4: 11,060,917 (GRCm39) |
T220A |
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,051,651 (GRCm39) |
Y135F |
possibly damaging |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,027,032 (GRCm39) |
L57Q |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,804 (GRCm39) |
L246P |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,715,661 (GRCm39) |
M839L |
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,914,254 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,876,771 (GRCm39) |
N99S |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
| Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,776 (GRCm39) |
K370* |
probably null |
Het |
| Simc1 |
A |
G |
13: 54,687,576 (GRCm39) |
D115G |
probably null |
Het |
| Stab1 |
T |
A |
14: 30,864,000 (GRCm39) |
N136I |
probably benign |
Het |
| Syt4 |
T |
A |
18: 31,580,409 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,038,106 (GRCm39) |
N522I |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,969,396 (GRCm39) |
D847E |
probably damaging |
Het |
| Th |
G |
T |
7: 142,447,834 (GRCm39) |
D321E |
probably benign |
Het |
| Tmem44 |
A |
T |
16: 30,359,591 (GRCm39) |
L46Q |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,087,122 (GRCm39) |
L178P |
probably damaging |
Het |
| Trp63 |
A |
G |
16: 25,684,968 (GRCm39) |
*285W |
probably null |
Het |
| Tsen34 |
T |
C |
7: 3,697,380 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
C |
T |
14: 55,889,272 (GRCm39) |
T256I |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,196,954 (GRCm39) |
N464K |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,895,177 (GRCm39) |
E741G |
probably damaging |
Het |
| Urad |
T |
A |
5: 147,252,264 (GRCm39) |
I63F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,852,858 (GRCm39) |
T701A |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,639 (GRCm39) |
V752A |
possibly damaging |
Het |
| Vmn2r69 |
C |
A |
7: 85,060,793 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,917 (GRCm39) |
S1376P |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
| Znfx1 |
A |
C |
2: 166,897,189 (GRCm39) |
F578L |
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 |
|
|
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'- TCCTGGAGACTGAATTCCTTCTG -3'
(R):5'- CAGTGCCCAGGACAATAAGATG -3'
Sequencing Primer
(F):5'- GATCTGTGAAGTTTGCAGCCCC -3'
(R):5'- ACTACAAGCGGCGCTTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation