Incidental Mutation 'R5308:Garre1'
ID |
434478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garre1
|
Ensembl Gene |
ENSMUSG00000066571 |
Gene Name |
granule associated Rac and RHOG effector 1 |
Synonyms |
4931406P16Rik |
MMRRC Submission |
042891-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
33936132-34012976 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 33945180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 355
(K355*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085592]
[ENSMUST00000108074]
[ENSMUST00000205264]
[ENSMUST00000206399]
|
AlphaFold |
Q8C5X1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085592
AA Change: K567*
|
SMART Domains |
Protein: ENSMUSP00000082730 Gene: ENSMUSG00000066571 AA Change: K567*
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
AA Change: K567*
|
SMART Domains |
Protein: ENSMUSP00000103709 Gene: ENSMUSG00000066571 AA Change: K567*
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
AA Change: K355*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207005
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.7%
- 10x: 95.4%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
4921504E06Rik |
T |
C |
2: 19,528,892 (GRCm39) |
D163G |
probably damaging |
Het |
Abcd4 |
C |
T |
12: 84,650,067 (GRCm39) |
|
probably null |
Het |
Alg9 |
T |
C |
9: 50,734,011 (GRCm39) |
S570P |
possibly damaging |
Het |
Angptl3 |
C |
A |
4: 98,922,723 (GRCm39) |
H255N |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Cdc37 |
A |
T |
9: 21,052,060 (GRCm39) |
D326E |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,946,898 (GRCm39) |
K6R |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,793,645 (GRCm39) |
K315E |
probably benign |
Het |
Cfap61 |
G |
A |
2: 145,951,908 (GRCm39) |
G190S |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,908,419 (GRCm39) |
T107A |
probably benign |
Het |
Ckap4 |
T |
C |
10: 84,364,238 (GRCm39) |
E275G |
probably benign |
Het |
Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
Csf3r |
A |
G |
4: 125,929,137 (GRCm39) |
D349G |
probably benign |
Het |
Cyp2d37-ps |
T |
C |
15: 82,574,012 (GRCm39) |
|
noncoding transcript |
Het |
Dmbt1 |
T |
A |
7: 130,642,751 (GRCm39) |
C190S |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,049,415 (GRCm39) |
F1670L |
possibly damaging |
Het |
Dnah5 |
A |
T |
15: 28,229,797 (GRCm39) |
I144F |
possibly damaging |
Het |
Eno2 |
C |
A |
6: 124,744,056 (GRCm39) |
V84L |
probably damaging |
Het |
Ercc4 |
G |
T |
16: 12,948,028 (GRCm39) |
R325L |
probably damaging |
Het |
Fcgr2b |
T |
G |
1: 170,793,279 (GRCm39) |
Q250P |
probably benign |
Het |
Garin5a |
T |
C |
7: 44,149,606 (GRCm39) |
V109A |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,920,524 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
C |
T |
9: 26,676,055 (GRCm39) |
G509D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grn |
A |
G |
11: 102,327,018 (GRCm39) |
N160D |
possibly damaging |
Het |
Hexd |
T |
A |
11: 121,113,095 (GRCm39) |
V510D |
probably damaging |
Het |
Igfbp1 |
G |
A |
11: 7,149,919 (GRCm39) |
|
probably null |
Het |
Itga11 |
T |
A |
9: 62,663,051 (GRCm39) |
M589K |
probably benign |
Het |
Itpr1 |
A |
T |
6: 108,333,472 (GRCm39) |
S51C |
probably damaging |
Het |
Klra3 |
T |
C |
6: 130,311,270 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
C |
6: 66,514,675 (GRCm39) |
|
probably null |
Het |
Matn3 |
CGGGGCTCGGGGGC |
CGGGGC |
12: 9,002,308 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,771,244 (GRCm39) |
Y939N |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,686,834 (GRCm39) |
S58N |
probably benign |
Het |
Or1j16 |
T |
A |
2: 36,530,706 (GRCm39) |
Y218* |
probably null |
Het |
Or3a1c |
T |
A |
11: 74,046,397 (GRCm39) |
M139K |
probably damaging |
Het |
Or4c103 |
T |
C |
2: 88,513,749 (GRCm39) |
E109G |
probably benign |
Het |
Or4k45 |
C |
T |
2: 111,394,899 (GRCm39) |
A297T |
probably damaging |
Het |
Paics |
T |
C |
5: 77,104,479 (GRCm39) |
S35P |
probably damaging |
Het |
Pcnt |
A |
C |
10: 76,192,159 (GRCm39) |
Y2717* |
probably null |
Het |
Plekho2 |
T |
A |
9: 65,465,957 (GRCm39) |
N144Y |
probably damaging |
Het |
Plscr5 |
T |
C |
9: 92,080,565 (GRCm39) |
F17S |
possibly damaging |
Het |
Prrc2a |
C |
T |
17: 35,380,023 (GRCm39) |
R192H |
unknown |
Het |
Rbm27 |
T |
A |
18: 42,460,275 (GRCm39) |
M735K |
probably damaging |
Het |
Rfc1 |
T |
A |
5: 65,436,804 (GRCm39) |
K625N |
probably damaging |
Het |
Ric8b |
T |
A |
10: 84,783,611 (GRCm39) |
F156L |
probably benign |
Het |
Romo1 |
C |
A |
2: 155,986,473 (GRCm39) |
A32E |
possibly damaging |
Het |
Rpl26 |
T |
A |
11: 68,795,284 (GRCm39) |
Y135N |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,429,849 (GRCm39) |
V636A |
probably benign |
Het |
Scyl2 |
A |
T |
10: 89,477,869 (GRCm39) |
I710N |
probably benign |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,249,903 (GRCm39) |
I154F |
probably damaging |
Het |
Snx11 |
A |
G |
11: 96,661,535 (GRCm39) |
S157P |
probably damaging |
Het |
Snx18 |
G |
A |
13: 113,753,383 (GRCm39) |
Q517* |
probably null |
Het |
Stard4 |
G |
T |
18: 33,336,678 (GRCm39) |
N212K |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,676,168 (GRCm39) |
Y454H |
probably damaging |
Het |
Stx17 |
A |
T |
4: 48,182,851 (GRCm39) |
|
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,480 (GRCm39) |
T164I |
possibly damaging |
Het |
Tbc1d8 |
T |
C |
1: 39,428,490 (GRCm39) |
Y485C |
probably damaging |
Het |
Tmem45b |
T |
C |
9: 31,340,380 (GRCm39) |
M8V |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,948,501 (GRCm39) |
F844L |
probably damaging |
Het |
Usp32 |
T |
A |
11: 84,908,544 (GRCm39) |
N1054I |
probably benign |
Het |
Xpa |
T |
A |
4: 46,185,659 (GRCm39) |
E106D |
probably benign |
Het |
Zfp85 |
C |
T |
13: 67,896,974 (GRCm39) |
C366Y |
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 |
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 |
|
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'- GGGTAAGTTCATGCCCTTCTC -3'
(R):5'- CCCTGTATACAGATCCAGCTGC -3'
Sequencing Primer
(F):5'- GTAAGTTCATGCCCTTCTCATCCTTG -3'
(R):5'- TCCAGCTGCAAAGGGATATCTGC -3'
|
Posted On |
2016-10-06 |