Incidental Mutation 'R2679:Ric1'
ID |
250840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
040432-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R2679 (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 29581430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1275
(S1275G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
[ENSMUST00000159692]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043610
AA Change: S1384G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: S1384G
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: ENSMUST00000159692
|
SMART Domains |
Protein: ENSMUSP00000124881 Gene: ENSMUSG00000046324
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
26 |
N/A |
INTRINSIC |
low complexity region
|
65 |
94 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
179 |
373 |
1.3e-49 |
PFAM |
Pfam:Peptidase_M20
|
184 |
375 |
2.9e-8 |
PFAM |
transmembrane domain
|
405 |
427 |
N/A |
INTRINSIC |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
481 |
503 |
N/A |
INTRINSIC |
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
transmembrane domain
|
543 |
562 |
N/A |
INTRINSIC |
transmembrane domain
|
575 |
597 |
N/A |
INTRINSIC |
transmembrane domain
|
617 |
639 |
N/A |
INTRINSIC |
transmembrane domain
|
646 |
668 |
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
AA Change: S405G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125709 Gene: ENSMUSG00000038658 AA Change: S405G
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 |
noncoding transcript
Transcript: ENSMUST00000161749
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162492
AA Change: S1275G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: S1275G
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 |
0.0973 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
97% (67/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asic2 |
A |
G |
11: 81,042,780 (GRCm39) |
V171A |
probably benign |
Het |
Atf7ip |
A |
T |
6: 136,543,649 (GRCm39) |
I641L |
possibly damaging |
Het |
Atrn |
G |
A |
2: 130,803,595 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
T |
C |
2: 153,790,544 (GRCm39) |
I145T |
probably damaging |
Het |
Bub3 |
A |
G |
7: 131,170,454 (GRCm39) |
|
probably null |
Het |
Catsperb |
T |
A |
12: 101,429,404 (GRCm39) |
D192E |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 21,944,613 (GRCm39) |
H849Y |
possibly damaging |
Het |
Cd101 |
G |
T |
3: 100,901,079 (GRCm39) |
Q998K |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,772,507 (GRCm39) |
M631L |
probably benign |
Het |
Cit |
T |
C |
5: 116,107,174 (GRCm39) |
V1102A |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,507,332 (GRCm39) |
T249M |
unknown |
Het |
Cpne6 |
A |
T |
14: 55,753,786 (GRCm39) |
I415F |
possibly damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,485,894 (GRCm39) |
I348V |
probably benign |
Het |
Defb28 |
T |
C |
2: 152,360,202 (GRCm39) |
S6P |
possibly damaging |
Het |
Dhrs7b |
A |
G |
11: 60,743,344 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,083,910 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,724,825 (GRCm39) |
T476A |
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,396,279 (GRCm39) |
D397G |
probably damaging |
Het |
Eogt |
G |
A |
6: 97,097,761 (GRCm39) |
T279I |
probably benign |
Het |
Fnip2 |
G |
A |
3: 79,388,233 (GRCm39) |
H833Y |
probably benign |
Het |
Gabrr2 |
A |
T |
4: 33,071,435 (GRCm39) |
T92S |
probably damaging |
Het |
Gm10110 |
T |
A |
14: 90,134,852 (GRCm39) |
|
noncoding transcript |
Het |
Gria2 |
A |
G |
3: 80,648,260 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,528,326 (GRCm39) |
T3274N |
possibly damaging |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,176,279 (GRCm39) |
K569E |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,372 (GRCm39) |
Y46C |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,959,136 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,745 (GRCm39) |
R552* |
probably null |
Het |
Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,577,846 (GRCm39) |
D2374E |
unknown |
Het |
Myl9 |
T |
A |
2: 156,622,426 (GRCm39) |
L70Q |
probably damaging |
Het |
Nebl |
C |
T |
2: 17,429,402 (GRCm39) |
S243N |
probably benign |
Het |
Nfat5 |
A |
G |
8: 108,071,546 (GRCm39) |
Y314C |
probably damaging |
Het |
Nr2f6 |
T |
A |
8: 71,827,380 (GRCm39) |
D307V |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,824,237 (GRCm39) |
S781P |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,897,923 (GRCm39) |
T103I |
possibly damaging |
Het |
Or4b1d |
A |
T |
2: 89,968,889 (GRCm39) |
V198D |
possibly damaging |
Het |
Or51h5 |
T |
A |
7: 102,577,238 (GRCm39) |
Y134* |
probably null |
Het |
Pex5l |
A |
T |
3: 33,136,201 (GRCm39) |
M6K |
probably benign |
Het |
Pgm3 |
A |
C |
9: 86,451,374 (GRCm39) |
C93W |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,279,406 (GRCm39) |
S2971P |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,782 (GRCm39) |
L2423P |
probably damaging |
Het |
Prkce |
A |
G |
17: 86,483,654 (GRCm39) |
|
probably benign |
Het |
Ptbp3 |
A |
G |
4: 59,494,615 (GRCm39) |
|
probably benign |
Het |
Ptgis |
T |
A |
2: 167,050,113 (GRCm39) |
M339L |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,025,568 (GRCm39) |
|
probably benign |
Het |
Rab44 |
T |
A |
17: 29,363,451 (GRCm39) |
|
probably null |
Het |
Rnf213 |
C |
A |
11: 119,350,764 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,552 (GRCm39) |
E328V |
probably benign |
Het |
Saraf |
C |
T |
8: 34,632,428 (GRCm39) |
T169I |
probably damaging |
Het |
Sbk2 |
T |
A |
7: 4,960,119 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
G |
7: 127,394,896 (GRCm39) |
|
probably benign |
Het |
Sit1 |
A |
G |
4: 43,483,157 (GRCm39) |
Y73H |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,142,399 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
T |
3: 94,173,217 (GRCm39) |
Y75F |
probably damaging |
Het |
Tas2r125 |
A |
G |
6: 132,887,190 (GRCm39) |
T193A |
probably benign |
Het |
Tbc1d9b |
T |
A |
11: 50,052,528 (GRCm39) |
|
probably null |
Het |
Tcf7l1 |
G |
T |
6: 72,604,403 (GRCm39) |
H580Q |
probably benign |
Het |
Tead1 |
T |
G |
7: 112,456,053 (GRCm39) |
S115A |
probably damaging |
Het |
Top2b |
G |
A |
14: 16,413,947 (GRCm38) |
G29D |
probably damaging |
Het |
Trpv4 |
A |
T |
5: 114,773,613 (GRCm39) |
C250S |
probably damaging |
Het |
U2surp |
A |
C |
9: 95,358,285 (GRCm39) |
I655S |
possibly damaging |
Het |
Ube2a |
G |
A |
X: 36,138,360 (GRCm39) |
|
probably benign |
Het |
Ubl7 |
A |
G |
9: 57,821,882 (GRCm39) |
D77G |
probably damaging |
Het |
Vmn1r91 |
T |
C |
7: 19,835,983 (GRCm39) |
C301R |
probably damaging |
Het |
Vmn2r90 |
A |
T |
17: 17,933,131 (GRCm39) |
R230S |
possibly damaging |
Het |
Wdfy3 |
T |
A |
5: 102,017,902 (GRCm39) |
E2560V |
probably damaging |
Het |
Zfp273 |
C |
T |
13: 67,973,895 (GRCm39) |
A341V |
probably benign |
Het |
Zfp512 |
C |
T |
5: 31,622,798 (GRCm39) |
A33V |
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 |
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'- CTCAGCCCTGGATATAAGCC -3'
(R):5'- GAGTTCTGACCCAAGTTCTTTTAC -3'
Sequencing Primer
(F):5'- GCCCTGGATATAAGCCATTTTTAAAC -3'
(R):5'- TTAAGTCATTCGGCAGGCCAC -3'
|
Posted On |
2014-12-04 |