Incidental Mutation 'R5965:Ric1'
ID |
472065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
044150-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R5965 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29548171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 280
(D280N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043610
AA Change: D280N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: D280N
Domain | Start | End | E-Value | Type |
Blast:WD40
|
242 |
278 |
5e-7 |
BLAST |
SCOP:d1gxra_
|
254 |
379 |
2e-4 |
SMART |
Blast:WD40
|
285 |
334 |
3e-6 |
BLAST |
Blast:WD40
|
482 |
520 |
5e-6 |
BLAST |
low complexity region
|
642 |
653 |
N/A |
INTRINSIC |
Pfam:RIC1
|
732 |
991 |
1.9e-86 |
PFAM |
low complexity region
|
1120 |
1132 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160221
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162492
AA Change: D208N
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: D208N
Domain | Start | End | E-Value | Type |
Blast:WD40
|
171 |
207 |
4e-7 |
BLAST |
SCOP:d1gxra_
|
183 |
308 |
2e-4 |
SMART |
Blast:WD40
|
214 |
263 |
2e-6 |
BLAST |
low complexity region
|
534 |
545 |
N/A |
INTRINSIC |
Pfam:RIC1
|
624 |
883 |
1.6e-86 |
PFAM |
low complexity region
|
1012 |
1024 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4367 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
Validation Efficiency |
98% (80/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
A |
5: 30,410,637 (GRCm39) |
T23S |
probably benign |
Het |
Armc2 |
A |
G |
10: 41,798,568 (GRCm39) |
I747T |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,579,261 (GRCm39) |
H1729L |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,905,525 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
A |
17: 32,743,611 (GRCm39) |
M326K |
probably damaging |
Het |
Dchs1 |
T |
G |
7: 105,405,132 (GRCm39) |
D2470A |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,225,804 (GRCm39) |
T518A |
probably damaging |
Het |
Derl2 |
T |
C |
11: 70,905,378 (GRCm39) |
T109A |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,402,147 (GRCm39) |
L3994P |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,546,461 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
T |
A |
12: 110,599,212 (GRCm39) |
S1856T |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,685,999 (GRCm39) |
K358E |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,746,367 (GRCm39) |
|
probably null |
Het |
Esco1 |
T |
C |
18: 10,593,867 (GRCm39) |
E473G |
possibly damaging |
Het |
Exoc5 |
A |
G |
14: 49,272,388 (GRCm39) |
F342S |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,842,978 (GRCm39) |
T1089S |
probably benign |
Het |
Fanca |
T |
C |
8: 124,043,149 (GRCm39) |
D79G |
possibly damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,696 (GRCm39) |
Y506C |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,310,565 (GRCm39) |
T379A |
probably benign |
Het |
Garin2 |
T |
A |
12: 78,757,080 (GRCm39) |
N12K |
unknown |
Het |
Gm34768 |
A |
G |
2: 11,913,316 (GRCm39) |
|
noncoding transcript |
Het |
Gps2 |
A |
G |
11: 69,805,620 (GRCm39) |
E46G |
possibly damaging |
Het |
Gsdmc |
T |
C |
15: 63,676,447 (GRCm39) |
|
probably null |
Het |
Gys1 |
C |
T |
7: 45,104,763 (GRCm39) |
T666I |
probably benign |
Het |
Hsd17b11 |
T |
A |
5: 104,169,651 (GRCm39) |
|
probably benign |
Het |
Iffo1 |
T |
A |
6: 125,129,471 (GRCm39) |
|
probably benign |
Het |
Ighv1-51 |
T |
C |
12: 115,095,177 (GRCm39) |
|
noncoding transcript |
Het |
Kansl3 |
T |
A |
1: 36,384,601 (GRCm39) |
|
probably null |
Het |
Kdm3a |
A |
G |
6: 71,598,364 (GRCm39) |
I174T |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
Lair1 |
T |
C |
7: 4,032,023 (GRCm39) |
D28G |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,562,944 (GRCm39) |
D489G |
possibly damaging |
Het |
Lamb3 |
A |
T |
1: 193,025,768 (GRCm39) |
I1153F |
probably damaging |
Het |
Lsp1 |
T |
A |
7: 142,044,161 (GRCm39) |
|
probably null |
Het |
Man1a |
A |
G |
10: 53,809,586 (GRCm39) |
|
probably benign |
Het |
Mcam |
A |
C |
9: 44,047,925 (GRCm39) |
S57R |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,861,168 (GRCm39) |
|
probably benign |
Het |
Nfia |
T |
C |
4: 97,999,529 (GRCm39) |
*499Q |
probably null |
Het |
Nmbr |
C |
A |
10: 14,642,554 (GRCm39) |
R38S |
probably benign |
Het |
Or12e7 |
T |
G |
2: 87,288,381 (GRCm39) |
F291V |
probably benign |
Het |
Or51a25 |
C |
A |
7: 102,373,467 (GRCm39) |
V77L |
probably benign |
Het |
Or5h23 |
T |
C |
16: 58,906,666 (GRCm39) |
Y60C |
probably damaging |
Het |
P3h1 |
C |
T |
4: 119,105,424 (GRCm39) |
H741Y |
probably benign |
Het |
Parp4 |
A |
T |
14: 56,861,489 (GRCm39) |
M941L |
probably benign |
Het |
Phaf1 |
T |
C |
8: 105,961,171 (GRCm39) |
F69L |
probably damaging |
Het |
Pik3c3 |
C |
T |
18: 30,431,633 (GRCm39) |
T331M |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 30,701,556 (GRCm39) |
|
probably null |
Het |
Qsox2 |
A |
T |
2: 26,112,233 (GRCm39) |
V103D |
probably benign |
Het |
Ranbp1 |
T |
C |
16: 18,063,092 (GRCm39) |
T95A |
probably damaging |
Het |
Scd1 |
A |
G |
19: 44,388,579 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
A |
G |
1: 107,204,653 (GRCm39) |
I31T |
probably benign |
Het |
Slc7a11 |
T |
A |
3: 50,333,593 (GRCm39) |
Y386F |
probably benign |
Het |
Smtnl2 |
A |
T |
11: 72,291,279 (GRCm39) |
|
probably null |
Het |
Snx2 |
G |
T |
18: 53,327,534 (GRCm39) |
E87* |
probably null |
Het |
Tars2 |
A |
C |
3: 95,655,464 (GRCm39) |
|
probably null |
Het |
Tax1bp1 |
C |
A |
6: 52,706,317 (GRCm39) |
T106N |
probably damaging |
Het |
Tcof1 |
A |
G |
18: 60,966,490 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
A |
8: 48,681,543 (GRCm39) |
E2680* |
probably null |
Het |
Thap7 |
C |
T |
16: 17,348,611 (GRCm39) |
|
probably benign |
Het |
Thoc6 |
T |
A |
17: 23,889,842 (GRCm39) |
I23F |
possibly damaging |
Het |
Tmem185b |
T |
G |
1: 119,454,294 (GRCm39) |
Y18* |
probably null |
Het |
Trav6-1 |
A |
C |
14: 52,876,254 (GRCm39) |
Y58S |
probably damaging |
Het |
Trbv16 |
A |
T |
6: 41,128,989 (GRCm39) |
I58F |
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,838 (GRCm39) |
M122K |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,596,392 (GRCm39) |
|
probably null |
Het |
Zdhhc24 |
T |
G |
19: 4,933,778 (GRCm39) |
D278E |
probably benign |
Het |
Zfp316 |
T |
C |
5: 143,250,427 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
T |
C |
4: 108,548,878 (GRCm39) |
T769A |
possibly damaging |
Het |
Znhit6 |
T |
A |
3: 145,284,103 (GRCm39) |
N96K |
possibly damaging |
Het |
|
Other mutations in Ric1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Ric1
|
APN |
19 |
29,572,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Ric1
|
APN |
19 |
29,544,631 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01405:Ric1
|
APN |
19 |
29,544,770 (GRCm39) |
splice site |
probably benign |
|
IGL01629:Ric1
|
APN |
19 |
29,581,381 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01688:Ric1
|
APN |
19 |
29,555,014 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01966:Ric1
|
APN |
19 |
29,572,963 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02123:Ric1
|
APN |
19 |
29,572,200 (GRCm39) |
missense |
probably benign |
|
IGL02590:Ric1
|
APN |
19 |
29,544,881 (GRCm39) |
splice site |
probably benign |
|
IGL02655:Ric1
|
APN |
19 |
29,572,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02699:Ric1
|
APN |
19 |
29,499,957 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02718:Ric1
|
APN |
19 |
29,510,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03026:Ric1
|
APN |
19 |
29,577,233 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03142:Ric1
|
APN |
19 |
29,578,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0109:Ric1
|
UTSW |
19 |
29,564,077 (GRCm39) |
synonymous |
silent |
|
R0336:Ric1
|
UTSW |
19 |
29,565,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R0362:Ric1
|
UTSW |
19 |
29,578,411 (GRCm39) |
critical splice donor site |
probably null |
|
R0676:Ric1
|
UTSW |
19 |
29,555,047 (GRCm39) |
missense |
probably benign |
|
R0734:Ric1
|
UTSW |
19 |
29,572,218 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1004:Ric1
|
UTSW |
19 |
29,579,757 (GRCm39) |
missense |
probably benign |
0.00 |
R1148:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1148:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1216:Ric1
|
UTSW |
19 |
29,555,135 (GRCm39) |
missense |
probably benign |
0.00 |
R1493:Ric1
|
UTSW |
19 |
29,557,249 (GRCm39) |
missense |
probably benign |
|
R1848:Ric1
|
UTSW |
19 |
29,578,213 (GRCm39) |
splice site |
probably null |
|
R1872:Ric1
|
UTSW |
19 |
29,580,068 (GRCm39) |
missense |
probably benign |
0.32 |
R1942:Ric1
|
UTSW |
19 |
29,578,416 (GRCm39) |
splice site |
probably benign |
|
R2143:Ric1
|
UTSW |
19 |
29,510,653 (GRCm39) |
missense |
probably damaging |
0.96 |
R2143:Ric1
|
UTSW |
19 |
29,510,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R2679:Ric1
|
UTSW |
19 |
29,581,430 (GRCm39) |
missense |
probably benign |
|
R2878:Ric1
|
UTSW |
19 |
29,579,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2970:Ric1
|
UTSW |
19 |
29,555,118 (GRCm39) |
missense |
probably benign |
0.15 |
R3420:Ric1
|
UTSW |
19 |
29,544,990 (GRCm39) |
missense |
probably damaging |
0.96 |
R3421:Ric1
|
UTSW |
19 |
29,544,990 (GRCm39) |
missense |
probably damaging |
0.96 |
R3940:Ric1
|
UTSW |
19 |
29,548,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4004:Ric1
|
UTSW |
19 |
29,557,201 (GRCm39) |
missense |
probably benign |
0.44 |
R4225:Ric1
|
UTSW |
19 |
29,580,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4280:Ric1
|
UTSW |
19 |
29,563,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4283:Ric1
|
UTSW |
19 |
29,563,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4516:Ric1
|
UTSW |
19 |
29,548,165 (GRCm39) |
missense |
probably benign |
0.17 |
R4702:Ric1
|
UTSW |
19 |
29,575,417 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4824:Ric1
|
UTSW |
19 |
29,563,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4835:Ric1
|
UTSW |
19 |
29,572,936 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5860:Ric1
|
UTSW |
19 |
29,577,245 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5883:Ric1
|
UTSW |
19 |
29,573,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Ric1
|
UTSW |
19 |
29,572,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6236:Ric1
|
UTSW |
19 |
29,572,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6271:Ric1
|
UTSW |
19 |
29,544,765 (GRCm39) |
splice site |
probably null |
|
R6345:Ric1
|
UTSW |
19 |
29,581,485 (GRCm39) |
missense |
probably benign |
0.09 |
R6371:Ric1
|
UTSW |
19 |
29,539,426 (GRCm39) |
missense |
probably benign |
0.35 |
R6547:Ric1
|
UTSW |
19 |
29,572,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Ric1
|
UTSW |
19 |
29,546,788 (GRCm39) |
missense |
probably damaging |
0.98 |
R6969:Ric1
|
UTSW |
19 |
29,563,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Ric1
|
UTSW |
19 |
29,565,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:Ric1
|
UTSW |
19 |
29,564,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Ric1
|
UTSW |
19 |
29,561,978 (GRCm39) |
critical splice donor site |
probably null |
|
R7434:Ric1
|
UTSW |
19 |
29,552,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R7619:Ric1
|
UTSW |
19 |
29,557,175 (GRCm39) |
missense |
probably benign |
0.32 |
R7850:Ric1
|
UTSW |
19 |
29,572,293 (GRCm39) |
missense |
probably benign |
|
R7941:Ric1
|
UTSW |
19 |
29,510,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Ric1
|
UTSW |
19 |
29,563,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8117:Ric1
|
UTSW |
19 |
29,552,191 (GRCm39) |
missense |
probably benign |
0.08 |
R8477:Ric1
|
UTSW |
19 |
29,575,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Ric1
|
UTSW |
19 |
29,548,143 (GRCm39) |
splice site |
probably benign |
|
R9044:Ric1
|
UTSW |
19 |
29,577,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R9727:Ric1
|
UTSW |
19 |
29,575,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R9733:Ric1
|
UTSW |
19 |
29,580,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0064:Ric1
|
UTSW |
19 |
29,565,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTCCTAAAGCAAGCAGAAG -3'
(R):5'- CACTGCCACAAGCCTTTATG -3'
Sequencing Primer
(F):5'- CCCAGGTTGATGCATATCGCTAAAG -3'
(R):5'- CTGCCACAAGCCTTTATGTGTAAGG -3'
|
Posted On |
2017-03-31 |