Incidental Mutation 'R0556:Garre1'
| ID |
45564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garre1
|
| Ensembl Gene |
ENSMUSG00000066571 |
| Gene Name |
granule associated Rac and RHOG effector 1 |
| Synonyms |
4931406P16Rik |
| MMRRC Submission |
038748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0556 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33939222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 222
(T222A)
|
| 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: T940A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: T940A
| 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: T940A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: T940A
| 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 |
probably damaging
Transcript: ENSMUST00000205264
AA Change: T222A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206245
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206399
AA Change: T728A
PolyPhen 2
Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
| 4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
| Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,927,970 (GRCm39) |
I37S |
probably damaging |
Het |
| Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
| Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
| Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
| Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
| Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
| Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,155,983 (GRCm39) |
I983T |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
| Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
T |
17: 33,356,812 (GRCm39) |
M320K |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
| Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
| Ppp1r12b |
T |
A |
1: 134,705,060 (GRCm39) |
Y876F |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
| Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
| Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
| Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
| Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,716 (GRCm39) |
N340S |
probably damaging |
Het |
| Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
| Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
| Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
| Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
| Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
| Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTAAGGTGACCATATCTCCCC -3'
(R):5'- TGCAAACAGCCAGTGCCATCTC -3'
Sequencing Primer
(F):5'- AAGGTGACCATATCTCCCCATTTAG -3'
(R):5'- CTTTACAGACAGGGATGCTGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation