Incidental Mutation 'R8477:Ric1'
| ID |
657339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric1
|
| Ensembl Gene |
ENSMUSG00000038658 |
| Gene Name |
RAB6A GEF complex partner 1 |
| Synonyms |
C030046E11Rik, C130057E09Rik |
| MMRRC Submission |
067921-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R8477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29575183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 959
(T959A)
|
| 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: T959A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: T959A
| 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 |
probably benign
Transcript: ENSMUST00000161330
|
| SMART Domains |
Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162492
AA Change: T850A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: T850A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,174 (GRCm39) |
S94L |
probably benign |
Het |
| Ackr1 |
C |
T |
1: 173,159,755 (GRCm39) |
G255R |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,337,785 (GRCm39) |
T560I |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,266 (GRCm39) |
F384I |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,943,679 (GRCm39) |
Q2671L |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,844,223 (GRCm39) |
E95G |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,385,385 (GRCm39) |
H2298Q |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,246,467 (GRCm39) |
|
probably null |
Het |
| Csnk1g1 |
T |
C |
9: 65,909,555 (GRCm39) |
L224P |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,708 (GRCm39) |
K241N |
probably benign |
Het |
| Cyp2c55 |
G |
T |
19: 38,999,485 (GRCm39) |
V64L |
probably damaging |
Het |
| Dlgap1 |
A |
C |
17: 70,823,967 (GRCm39) |
Q317H |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,505,212 (GRCm39) |
D108G |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,243,390 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,138,958 (GRCm39) |
R424G |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,672 (GRCm39) |
K367R |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,891 (GRCm39) |
Y228C |
probably benign |
Het |
| Exosc10 |
A |
T |
4: 148,649,847 (GRCm39) |
I426L |
possibly damaging |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gm19965 |
A |
C |
1: 116,730,854 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,548,133 (GRCm39) |
K1640E |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,879,182 (GRCm39) |
C1557S |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,029,684 (GRCm39) |
S799N |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,617,185 (GRCm39) |
W17R |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,696 (GRCm39) |
T2592S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,200 (GRCm39) |
T113I |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,370,006 (GRCm39) |
V211D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,105 (GRCm39) |
Y121C |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,992,138 (GRCm39) |
T597A |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,581,279 (GRCm39) |
E688G |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,644,539 (GRCm39) |
A589T |
possibly damaging |
Het |
| Limch1 |
G |
A |
5: 67,131,908 (GRCm39) |
V133I |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,164,407 (GRCm39) |
A1670T |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,684,942 (GRCm39) |
L949Q |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,159,219 (GRCm39) |
V833A |
probably benign |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,099 (GRCm39) |
Y290N |
probably damaging |
Het |
| Osgep |
C |
A |
14: 51,155,334 (GRCm39) |
A75S |
probably damaging |
Het |
| Pank1 |
C |
A |
19: 34,856,055 (GRCm39) |
R141L |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,307 (GRCm39) |
S278T |
probably benign |
Het |
| Pcdhgb8 |
C |
A |
18: 37,896,365 (GRCm39) |
F478L |
probably benign |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,626,312 (GRCm39) |
P1613S |
probably benign |
Het |
| Pramel55 |
A |
C |
5: 95,949,567 (GRCm39) |
M105L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,381,124 (GRCm39) |
S251A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,320,029 (GRCm39) |
H546R |
probably damaging |
Het |
| Reck |
G |
T |
4: 43,891,011 (GRCm39) |
V50L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,184 (GRCm39) |
T164A |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,346 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
T |
A |
13: 58,724,609 (GRCm39) |
N215I |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,210,119 (GRCm39) |
V35I |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,718,986 (GRCm39) |
S610T |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,079 (GRCm39) |
F1624L |
probably benign |
Het |
| Tmem147 |
T |
A |
7: 30,427,656 (GRCm39) |
M86L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,636,622 (GRCm39) |
V195A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,774,038 (GRCm39) |
S112G |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,078,693 (GRCm39) |
V424A |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,200 (GRCm39) |
I252M |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp37 |
A |
G |
4: 62,110,240 (GRCm39) |
C275R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,137 (GRCm39) |
I357F |
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 |
|
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'- TGTGATCTAAGCAAGCAGAGC -3'
(R):5'- TCAAAGATGCTCTGTGGGTG -3'
Sequencing Primer
(F):5'- GCATATCTGGAACTTTCAAATGCTCC -3'
(R):5'- GTGTATGCCCTACAAAAGCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation