Incidental Mutation 'R1004:Ric1'
| ID |
98019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.457)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29579757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1233
(N1233S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
AA Change: N1233S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: N1233S
| 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: ENSMUST00000160452
|
| SMART Domains |
Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIC1
|
8 |
163 |
1.4e-60 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161330
AA Change: N254S
|
| SMART Domains |
Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
AA Change: N254S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161536
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162492
AA Change: N1124S
|
| SMART Domains |
Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: N1124S
| 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 |
0.0579 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ATGTGTGAAGGCTCCCAACTGC -3'
(R):5'- CTCTGAGAATCAGGCCGATGACAAC -3'
Sequencing Primer
(F):5'- TGGCTATTTTAGCAGTAGATTGAATG -3'
(R):5'- GCCTCCATGAAAATGTGCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation