Incidental Mutation 'R6271:Ric1'
| ID |
507370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
044379-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R6271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 29544765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
[ENSMUST00000162184]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000160221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162184
|
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
G |
T |
4: 132,792,035 (GRCm39) |
C1092F |
possibly damaging |
Het |
| Aplf |
T |
C |
6: 87,623,230 (GRCm39) |
E304G |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,615,879 (GRCm39) |
D547G |
probably benign |
Het |
| B3gat2 |
T |
C |
1: 23,854,342 (GRCm39) |
L212P |
probably damaging |
Het |
| Babam2 |
G |
T |
5: 32,158,706 (GRCm39) |
A219S |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,322,753 (GRCm39) |
S618R |
possibly damaging |
Het |
| Ces2c |
G |
A |
8: 105,578,748 (GRCm39) |
G342D |
probably damaging |
Het |
| Cfap57 |
A |
C |
4: 118,452,956 (GRCm39) |
D582E |
probably benign |
Het |
| Cisd2 |
T |
C |
3: 135,114,627 (GRCm39) |
N115D |
possibly damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,159 (GRCm39) |
F42L |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,211 (GRCm39) |
D156G |
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,513,767 (GRCm39) |
I1554K |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,474 (GRCm39) |
T347A |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,831,643 (GRCm39) |
C361S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,792,516 (GRCm39) |
I406V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ifna13 |
A |
C |
4: 88,562,082 (GRCm39) |
L181V |
possibly damaging |
Het |
| Irx4 |
A |
G |
13: 73,414,713 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
A |
3: 106,944,922 (GRCm39) |
M395K |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,559,957 (GRCm39) |
V347D |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,822,698 (GRCm39) |
V218E |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,995,298 (GRCm39) |
Q167* |
probably null |
Het |
| Lama2 |
T |
C |
10: 26,899,325 (GRCm39) |
D2457G |
possibly damaging |
Het |
| Ldah |
G |
A |
12: 8,318,599 (GRCm39) |
|
probably null |
Het |
| Lhfpl3 |
G |
T |
5: 22,951,242 (GRCm39) |
A18S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,851 (GRCm39) |
|
probably null |
Het |
| Ltv1 |
T |
C |
10: 13,055,445 (GRCm39) |
Y352C |
probably damaging |
Het |
| Lyst |
G |
T |
13: 13,833,339 (GRCm39) |
M1720I |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,937,059 (GRCm39) |
|
probably null |
Het |
| Myo18a |
A |
G |
11: 77,711,635 (GRCm39) |
H626R |
probably damaging |
Het |
| Nop9 |
A |
C |
14: 55,991,198 (GRCm39) |
Q618H |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,895,554 (GRCm39) |
Q24R |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,906 (GRCm39) |
S73P |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8c9 |
T |
C |
9: 38,241,578 (GRCm39) |
S232P |
probably benign |
Het |
| Otog |
C |
A |
7: 45,901,464 (GRCm39) |
Q388K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Oxct2b |
T |
G |
4: 123,011,508 (GRCm39) |
V476G |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,126,202 (GRCm39) |
T329A |
probably benign |
Het |
| Pcdhga5 |
T |
C |
18: 37,829,735 (GRCm39) |
S728P |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,221,671 (GRCm39) |
H574Q |
probably damaging |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Preb |
C |
A |
5: 31,115,395 (GRCm39) |
V255F |
probably damaging |
Het |
| Prmt9 |
A |
G |
8: 78,304,092 (GRCm39) |
N725S |
probably damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,572 (GRCm39) |
D446V |
probably damaging |
Het |
| Serinc3 |
G |
C |
2: 163,472,896 (GRCm39) |
L245V |
probably benign |
Het |
| Sgce |
T |
C |
6: 4,730,015 (GRCm39) |
K70E |
possibly damaging |
Het |
| Simc1 |
T |
G |
13: 54,687,537 (GRCm39) |
V102G |
probably damaging |
Het |
| Slc66a3 |
T |
C |
12: 17,047,704 (GRCm39) |
D76G |
probably damaging |
Het |
| Smyd2 |
A |
G |
1: 189,616,049 (GRCm39) |
Y362H |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,660 (GRCm39) |
H2310N |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,184,652 (GRCm39) |
Y4077C |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,937,155 (GRCm39) |
A251E |
probably damaging |
Het |
| Taok1 |
A |
T |
11: 77,464,609 (GRCm39) |
L159Q |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,086,593 (GRCm39) |
L1043P |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,405,536 (GRCm39) |
E352G |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,039 (GRCm39) |
T46S |
probably benign |
Het |
| Ubiad1 |
A |
T |
4: 148,521,083 (GRCm39) |
Y180* |
probably null |
Het |
| Usp47 |
A |
G |
7: 111,686,263 (GRCm39) |
E627G |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,145 (GRCm39) |
T280A |
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 |
|
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 |
|
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'- ACTTGAGTTGCTTGCTTCCG -3'
(R):5'- TGCCGTAAATCTACTGGATACTG -3'
Sequencing Primer
(F):5'- CCGTCCAGTTTGCAGTCTGTG -3'
(R):5'- CCATCAAGTGTGGCACAGTATTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation