Incidental Mutation 'R9023:Ric1'
| ID |
716020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
068853-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R9023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 29548143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
| 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 |
probably benign
Transcript: ENSMUST00000162492
|
| SMART Domains |
Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,636,917 (GRCm39) |
D760G |
possibly damaging |
Het |
| Adamts14 |
C |
T |
10: 61,038,780 (GRCm39) |
S907N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,614,651 (GRCm39) |
Y245F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,613,065 (GRCm39) |
A98V |
probably damaging |
Het |
| Afmid |
A |
T |
11: 117,726,349 (GRCm39) |
I186F |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,400,596 (GRCm39) |
Y706H |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,685,652 (GRCm39) |
S55R |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,892,576 (GRCm39) |
H1485R |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,796,138 (GRCm39) |
T734M |
possibly damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,069 (GRCm39) |
|
probably benign |
Het |
| Bcl7c |
T |
C |
7: 127,306,504 (GRCm39) |
N96D |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,465,360 (GRCm39) |
L1708P |
probably benign |
Het |
| Ccl8 |
C |
T |
11: 82,006,873 (GRCm39) |
P29S |
possibly damaging |
Het |
| Clpx |
T |
A |
9: 65,234,115 (GRCm39) |
C587S |
probably null |
Het |
| Coro2b |
T |
C |
9: 62,332,978 (GRCm39) |
D168G |
|
Het |
| Dst |
T |
C |
1: 34,153,105 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
C |
T |
7: 4,477,042 (GRCm39) |
Q443* |
probably null |
Het |
| Fam131b |
G |
T |
6: 42,298,946 (GRCm39) |
N11K |
possibly damaging |
Het |
| Firrm |
A |
T |
1: 163,818,300 (GRCm39) |
I47N |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,417,413 (GRCm39) |
F284S |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,904,380 (GRCm39) |
I617T |
probably damaging |
Het |
| Gm4847 |
C |
T |
1: 166,469,332 (GRCm39) |
V111M |
probably damaging |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,854 (GRCm39) |
V179I |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,595,612 (GRCm39) |
N430S |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,761 (GRCm39) |
S821P |
probably benign |
Het |
| Letm2 |
C |
T |
8: 26,077,236 (GRCm39) |
V285I |
|
Het |
| Map3k14 |
T |
C |
11: 103,129,835 (GRCm39) |
T361A |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,504,913 (GRCm39) |
M236L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 17,996,202 (GRCm39) |
K97R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,432 (GRCm39) |
K194* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,718,477 (GRCm39) |
Y949C |
probably damaging |
Het |
| Nat8f1 |
A |
G |
6: 85,887,369 (GRCm39) |
L197P |
probably damaging |
Het |
| Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
| Or2aa1 |
A |
T |
11: 59,480,367 (GRCm39) |
C183S |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or8g24 |
T |
C |
9: 38,989,307 (GRCm39) |
I245V |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,348,490 (GRCm39) |
Y515C |
probably damaging |
Het |
| Pde11a |
C |
G |
2: 75,966,803 (GRCm39) |
A549P |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,959,662 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,153,925 (GRCm39) |
I175V |
possibly damaging |
Het |
| Prb1b |
GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT |
G |
6: 132,289,174 (GRCm39) |
|
probably null |
Het |
| Prr7 |
A |
G |
13: 55,620,234 (GRCm39) |
S133G |
possibly damaging |
Het |
| Pten |
C |
A |
19: 32,795,412 (GRCm39) |
D326E |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,343 (GRCm39) |
L2021* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,140,077 (GRCm39) |
I161V |
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,373,791 (GRCm39) |
S1157P |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,029,763 (GRCm39) |
V153A |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,968,531 (GRCm39) |
Y275H |
unknown |
Het |
| Slc6a18 |
C |
T |
13: 73,823,889 (GRCm39) |
G84R |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,301,093 (GRCm39) |
E187G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,426,249 (GRCm39) |
S520P |
unknown |
Het |
| Taar8b |
C |
T |
10: 23,967,205 (GRCm39) |
E330K |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,599,742 (GRCm39) |
F209S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,365,239 (GRCm39) |
V61D |
|
Het |
| Tg |
T |
C |
15: 66,555,522 (GRCm39) |
F738S |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,102,254 (GRCm39) |
S51P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,231 (GRCm39) |
S14975G |
probably benign |
Het |
| Usp15 |
C |
T |
10: 122,961,498 (GRCm39) |
G685R |
possibly damaging |
Het |
| Usp17lc |
C |
T |
7: 103,067,539 (GRCm39) |
P278L |
possibly damaging |
Het |
| Wasf1 |
T |
C |
10: 40,810,571 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zbtb46 |
C |
T |
2: 181,065,935 (GRCm39) |
V72I |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,007,563 (GRCm39) |
M1V |
probably null |
Het |
| Zfp648 |
T |
C |
1: 154,080,914 (GRCm39) |
F358L |
probably 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 |
|
R5965:Ric1
|
UTSW |
19 |
29,548,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGGGTGCCTATGTGTGGAAC -3'
(R):5'- ACAAGCCTTTATGTGTAAGGATCAG -3'
Sequencing Primer
(F):5'- CCCAGGTTGATGCATATCGCTAAAG -3'
(R):5'- TGTGTAAGGATCAGTATACAGAGTTG -3'
|
| Posted On |
2022-06-24 |
Incidental Mutation