Incidental Mutation 'R4702:Ric1'
ID |
356172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ric1
|
Ensembl Gene |
ENSMUSG00000038658 |
Gene Name |
RAB6A GEF complex partner 1 |
Synonyms |
C030046E11Rik, C130057E09Rik |
MMRRC Submission |
041950-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.501)
|
Stock # |
R4702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
29499637-29583909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29575417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1009
(F1009I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043610
AA Change: F1009I
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043437 Gene: ENSMUSG00000038658 AA Change: F1009I
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: F30I
|
SMART Domains |
Protein: ENSMUSP00000125709 Gene: ENSMUSG00000038658 AA Change: F30I
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: F900I
|
SMART Domains |
Protein: ENSMUSP00000124727 Gene: ENSMUSG00000038658 AA Change: F900I
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,509 (GRCm39) |
T390A |
probably benign |
Het |
Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
Adra1a |
T |
C |
14: 66,875,008 (GRCm39) |
|
probably benign |
Het |
Aff1 |
T |
C |
5: 103,958,935 (GRCm39) |
Y343H |
probably damaging |
Het |
Antxr2 |
C |
T |
5: 98,097,028 (GRCm39) |
|
probably null |
Het |
Ap1m2 |
A |
G |
9: 21,209,591 (GRCm39) |
F362L |
probably benign |
Het |
Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
Armc3 |
A |
G |
2: 19,314,792 (GRCm39) |
N822S |
probably damaging |
Het |
Atr |
A |
C |
9: 95,802,408 (GRCm39) |
T1767P |
possibly damaging |
Het |
B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
Bloc1s1 |
T |
A |
10: 128,759,267 (GRCm39) |
Q13L |
probably damaging |
Het |
Blvra |
A |
C |
2: 126,933,982 (GRCm39) |
I125L |
probably benign |
Het |
Caps2 |
T |
C |
10: 112,044,252 (GRCm39) |
F484L |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,767,968 (GRCm39) |
I188K |
possibly damaging |
Het |
Cidea |
T |
A |
18: 67,500,498 (GRCm39) |
F187I |
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,142,292 (GRCm39) |
N1025I |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,926,676 (GRCm39) |
C565S |
probably benign |
Het |
Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,648 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
A |
T |
4: 96,021,230 (GRCm39) |
|
probably null |
Het |
Dnajb13 |
T |
C |
7: 100,153,748 (GRCm39) |
N229S |
probably benign |
Het |
Dpys |
A |
G |
15: 39,656,798 (GRCm39) |
V423A |
possibly damaging |
Het |
Eif4e1b |
A |
T |
13: 54,935,138 (GRCm39) |
I222F |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,057,958 (GRCm39) |
N87Y |
unknown |
Het |
Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
Epha7 |
T |
A |
4: 28,961,425 (GRCm39) |
L890Q |
probably damaging |
Het |
Fancm |
T |
A |
12: 65,168,826 (GRCm39) |
S1730T |
possibly damaging |
Het |
Flrt3 |
A |
G |
2: 140,503,575 (GRCm39) |
F18L |
probably benign |
Het |
Git2 |
A |
G |
5: 114,883,543 (GRCm39) |
S396P |
probably damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,772,874 (GRCm39) |
I36T |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,894,947 (GRCm39) |
S1873L |
possibly damaging |
Het |
Ints12 |
A |
T |
3: 132,802,546 (GRCm39) |
D10V |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,288 (GRCm39) |
S483P |
probably benign |
Het |
Kcnv2 |
G |
C |
19: 27,300,967 (GRCm39) |
A273P |
probably damaging |
Het |
Klc3 |
T |
G |
7: 19,129,756 (GRCm39) |
D371A |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,711,086 (GRCm39) |
L1567* |
probably null |
Het |
Ldhal6b |
G |
T |
17: 5,468,582 (GRCm39) |
H117Q |
probably damaging |
Het |
Lrriq1 |
G |
T |
10: 103,051,610 (GRCm39) |
Q381K |
possibly damaging |
Het |
Mrps31 |
T |
A |
8: 22,909,754 (GRCm39) |
L140Q |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,834 (GRCm39) |
T2119A |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,456 (GRCm39) |
D243G |
probably damaging |
Het |
Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
Papln |
C |
T |
12: 83,828,757 (GRCm39) |
T821I |
probably benign |
Het |
Pitpnb |
T |
G |
5: 111,519,218 (GRCm39) |
V166G |
probably benign |
Het |
Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,405,269 (GRCm39) |
S25R |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,653,038 (GRCm39) |
I175V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,799,715 (GRCm39) |
Q687H |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,741,404 (GRCm39) |
V584A |
probably damaging |
Het |
Psen2 |
A |
G |
1: 180,055,289 (GRCm39) |
L399S |
probably damaging |
Het |
Ptchd3 |
G |
A |
11: 121,727,235 (GRCm39) |
V370I |
probably damaging |
Het |
Rasa3 |
G |
T |
8: 13,620,394 (GRCm39) |
D758E |
probably benign |
Het |
Reck |
T |
C |
4: 43,898,060 (GRCm39) |
C113R |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,230,901 (GRCm39) |
T1316A |
probably benign |
Het |
Rrp12 |
T |
C |
19: 41,859,975 (GRCm39) |
N1035S |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,993,962 (GRCm39) |
S849T |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,462,857 (GRCm39) |
Y1060N |
possibly damaging |
Het |
Selenov |
A |
G |
7: 27,987,436 (GRCm39) |
L314P |
probably damaging |
Het |
Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
Slc7a14 |
T |
A |
3: 31,284,547 (GRCm39) |
Y263F |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,970,315 (GRCm39) |
S431P |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Spopl |
A |
T |
2: 23,405,309 (GRCm39) |
|
probably null |
Het |
Stk10 |
A |
T |
11: 32,505,172 (GRCm39) |
T69S |
probably benign |
Het |
Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
Tec |
G |
A |
5: 72,941,074 (GRCm39) |
P161L |
possibly damaging |
Het |
Tnip1 |
A |
G |
11: 54,815,228 (GRCm39) |
S339P |
probably benign |
Het |
Tsen34 |
T |
A |
7: 3,703,632 (GRCm39) |
V290D |
probably damaging |
Het |
Tuba1a |
T |
A |
15: 98,849,563 (GRCm39) |
I5F |
possibly damaging |
Het |
Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
Vmn1r63 |
T |
C |
7: 5,806,516 (GRCm39) |
R39G |
possibly damaging |
Het |
Xylt2 |
A |
G |
11: 94,560,355 (GRCm39) |
Y307H |
possibly damaging |
Het |
Zfp65 |
A |
G |
13: 67,872,341 (GRCm39) |
M1T |
probably null |
Het |
Zmym4 |
T |
C |
4: 126,816,958 (GRCm39) |
I247V |
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 |
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'- GCTACCCTGCTGTTCAACAC -3'
(R):5'- AATGCTTTGAAATGCAGCGGAC -3'
Sequencing Primer
(F):5'- GTGCCGACACATGATTCGATTTC -3'
(R):5'- TGCAGCGGACAAAAGCTCTG -3'
|
Posted On |
2015-10-21 |