Incidental Mutation 'R0482:Rb1cc1'
| ID |
41996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rb1cc1
|
| Ensembl Gene |
ENSMUSG00000025907 |
| Gene Name |
RB1-inducible coiled-coil 1 |
| Synonyms |
Fip200, 2900055E04Rik, 5930404L04Rik, Cc1, LaXp180 |
| MMRRC Submission |
038682-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0482 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 6310547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 315
(D315A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000160871]
[ENSMUST00000162795]
|
| AlphaFold |
Q9ESK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027040
AA Change: D315A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: D315A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
51 |
7e-4 |
SMART |
|
Blast:UBQ
|
3 |
76 |
8e-12 |
BLAST |
|
low complexity region
|
471 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
674 |
N/A |
INTRINSIC |
|
coiled coil region
|
859 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1045 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1066 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1159 |
1305 |
1e-3 |
SMART |
|
low complexity region
|
1374 |
1388 |
N/A |
INTRINSIC |
|
Pfam:ATG11
|
1447 |
1583 |
5.6e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160871
|
| SMART Domains |
Protein: ENSMUSP00000123768
Gene: ENSMUSG00000025907
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
51 |
1e-5 |
SMART |
|
Blast:UBQ
|
3 |
76 |
3e-14 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161327
AA Change: D194A
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: D194A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
351 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
738 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
946 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1039 |
1174 |
3e-3 |
SMART |
|
low complexity region
|
1254 |
1268 |
N/A |
INTRINSIC |
|
Pfam:ATG11
|
1327 |
1463 |
6.7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162795
AA Change: D315A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: D315A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
51 |
2e-4 |
SMART |
|
Blast:UBQ
|
3 |
76 |
4e-12 |
BLAST |
|
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
657 |
N/A |
INTRINSIC |
|
coiled coil region
|
842 |
865 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4281 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
95% (94/99) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,207,255 (GRCm39) |
|
probably null |
Het |
| Abca13 |
G |
A |
11: 9,278,207 (GRCm39) |
G3129D |
possibly damaging |
Het |
| Acnat2 |
T |
C |
4: 49,383,534 (GRCm39) |
I6M |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,012,029 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
G |
4: 156,258,012 (GRCm39) |
S1117P |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,195,057 (GRCm39) |
N545S |
probably benign |
Het |
| Antxr1 |
C |
T |
6: 87,246,220 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,529,828 (GRCm39) |
K476E |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,972,088 (GRCm39) |
S927G |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,041,132 (GRCm39) |
T1286I |
probably benign |
Het |
| Ccdc174 |
T |
A |
6: 91,872,247 (GRCm39) |
M292K |
probably benign |
Het |
| Cdk5rap2 |
G |
A |
4: 70,328,506 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,706,272 (GRCm39) |
Y918* |
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,894 (GRCm39) |
|
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,746,903 (GRCm39) |
D513G |
possibly damaging |
Het |
| Clec2l |
A |
G |
6: 38,640,327 (GRCm39) |
T53A |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 45,692,750 (GRCm39) |
S77L |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,016,957 (GRCm39) |
H102L |
probably benign |
Het |
| Crim1 |
T |
A |
17: 78,680,008 (GRCm39) |
D916E |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,283,115 (GRCm39) |
I614F |
probably damaging |
Het |
| Csnk1g1 |
G |
A |
9: 65,917,751 (GRCm39) |
E37K |
probably damaging |
Het |
| Ctnnbl1 |
T |
A |
2: 157,713,110 (GRCm39) |
|
probably null |
Het |
| Cuzd1 |
A |
T |
7: 130,911,601 (GRCm39) |
|
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,769,525 (GRCm39) |
V433D |
probably damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,144 (GRCm39) |
L75P |
probably damaging |
Het |
| Ddias |
G |
A |
7: 92,508,736 (GRCm39) |
A393V |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,569,990 (GRCm39) |
Y123* |
probably null |
Het |
| Dlgap1 |
T |
C |
17: 70,823,185 (GRCm39) |
C57R |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,129,387 (GRCm39) |
V1458D |
probably benign |
Het |
| Eif2ak4 |
T |
A |
2: 118,292,828 (GRCm39) |
Y1230N |
probably damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,543,632 (GRCm39) |
S338R |
probably benign |
Het |
| Fgf23 |
A |
T |
6: 127,050,122 (GRCm39) |
T44S |
probably damaging |
Het |
| Fhip1b |
G |
A |
7: 105,033,419 (GRCm39) |
P599L |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,395,309 (GRCm39) |
|
probably benign |
Het |
| Gpsm2 |
A |
T |
3: 108,609,710 (GRCm39) |
|
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,900,295 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,130 (GRCm39) |
|
probably benign |
Het |
| Il31ra |
G |
T |
13: 112,664,015 (GRCm39) |
T446N |
possibly damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,369 (GRCm39) |
L199H |
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,118,188 (GRCm39) |
M1K |
probably null |
Het |
| Kif4-ps |
A |
C |
12: 101,114,921 (GRCm39) |
I1017L |
probably benign |
Het |
| Klhl2 |
C |
T |
8: 65,211,164 (GRCm39) |
V295M |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,478,746 (GRCm39) |
M296K |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,838,437 (GRCm39) |
S439P |
probably damaging |
Het |
| Lhfpl2 |
C |
A |
13: 94,311,118 (GRCm39) |
N129K |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,955,771 (GRCm39) |
V675A |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,175,977 (GRCm39) |
T1673A |
probably benign |
Het |
| Mif |
A |
G |
10: 75,695,974 (GRCm39) |
V10A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,301,158 (GRCm39) |
I1292N |
possibly damaging |
Het |
| Mylip |
C |
A |
13: 45,558,059 (GRCm39) |
N89K |
probably benign |
Het |
| Myo19 |
G |
T |
11: 84,800,245 (GRCm39) |
D877Y |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,954,102 (GRCm39) |
S753P |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,783,056 (GRCm39) |
T118A |
possibly damaging |
Het |
| Nptx2 |
T |
C |
5: 144,490,269 (GRCm39) |
Y233H |
probably damaging |
Het |
| Nsl1 |
T |
A |
1: 190,795,237 (GRCm39) |
M1K |
probably null |
Het |
| Ntsr1 |
T |
A |
2: 180,142,849 (GRCm39) |
S213R |
possibly damaging |
Het |
| Or4c120 |
A |
T |
2: 89,000,975 (GRCm39) |
F194I |
probably benign |
Het |
| Or4c58 |
A |
G |
2: 89,674,513 (GRCm39) |
V268A |
probably benign |
Het |
| Or52n5 |
T |
A |
7: 104,588,021 (GRCm39) |
F96Y |
possibly damaging |
Het |
| Pde4d |
G |
A |
13: 110,073,244 (GRCm39) |
V347I |
probably benign |
Het |
| Pik3r4 |
T |
A |
9: 105,546,244 (GRCm39) |
S865T |
probably benign |
Het |
| Ppp2r2d |
A |
G |
7: 138,472,160 (GRCm39) |
R136G |
probably benign |
Het |
| Proser2 |
A |
C |
2: 6,118,721 (GRCm39) |
S41A |
probably damaging |
Het |
| Proz |
A |
T |
8: 13,123,460 (GRCm39) |
K244* |
probably null |
Het |
| Prpf38b |
A |
T |
3: 108,812,586 (GRCm39) |
L209H |
probably damaging |
Het |
| R3hdm1 |
C |
A |
1: 128,112,254 (GRCm39) |
A390E |
probably benign |
Het |
| Rnf141 |
G |
A |
7: 110,436,345 (GRCm39) |
R28* |
probably null |
Het |
| Rps6kc1 |
A |
T |
1: 190,531,627 (GRCm39) |
S792T |
probably benign |
Het |
| Rxrg |
A |
G |
1: 167,458,606 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,321 (GRCm39) |
N114S |
probably benign |
Het |
| Slc25a38 |
T |
C |
9: 119,949,899 (GRCm39) |
V205A |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,127,361 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
T |
A |
2: 116,983,459 (GRCm39) |
|
probably null |
Het |
| Stt3b |
A |
G |
9: 115,077,635 (GRCm39) |
S706P |
probably benign |
Het |
| Tcerg1 |
C |
A |
18: 42,697,305 (GRCm39) |
|
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,207,108 (GRCm39) |
Y230C |
probably damaging |
Het |
| Thsd4 |
A |
T |
9: 59,910,261 (GRCm39) |
I109N |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,344,236 (GRCm39) |
P1367Q |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,130,255 (GRCm39) |
D146G |
probably damaging |
Het |
| Tubd1 |
T |
G |
11: 86,448,602 (GRCm39) |
V305G |
possibly damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,005,855 (GRCm39) |
L81P |
probably benign |
Het |
| Ubxn2b |
T |
A |
4: 6,196,404 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
T |
11: 118,156,020 (GRCm39) |
S586T |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,826,264 (GRCm39) |
D2220V |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,216 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r70 |
G |
A |
7: 10,368,204 (GRCm39) |
A231T |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,167,930 (GRCm39) |
D728G |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,710,539 (GRCm39) |
E1200G |
probably damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,436 (GRCm39) |
V252D |
probably damaging |
Het |
|
| Other mutations in Rb1cc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Rb1cc1
|
APN |
1 |
6,319,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00590:Rb1cc1
|
APN |
1 |
6,308,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00678:Rb1cc1
|
APN |
1 |
6,304,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00705:Rb1cc1
|
APN |
1 |
6,314,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00957:Rb1cc1
|
APN |
1 |
6,319,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Rb1cc1
|
APN |
1 |
6,320,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01599:Rb1cc1
|
APN |
1 |
6,318,995 (GRCm39) |
nonsense |
probably null |
|
|
IGL01610:Rb1cc1
|
APN |
1 |
6,318,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01929:Rb1cc1
|
APN |
1 |
6,310,383 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01978:Rb1cc1
|
APN |
1 |
6,308,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Rb1cc1
|
APN |
1 |
6,335,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02471:Rb1cc1
|
APN |
1 |
6,310,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02677:Rb1cc1
|
APN |
1 |
6,319,643 (GRCm39) |
missense |
probably benign |
|
|
IGL02702:Rb1cc1
|
APN |
1 |
6,310,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02816:Rb1cc1
|
APN |
1 |
6,333,052 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Rb1cc1
|
APN |
1 |
6,334,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fingerling
|
UTSW |
1 |
6,331,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tots
|
UTSW |
1 |
6,315,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02988:Rb1cc1
|
UTSW |
1 |
6,318,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0020:Rb1cc1
|
UTSW |
1 |
6,334,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0254:Rb1cc1
|
UTSW |
1 |
6,333,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rb1cc1
|
UTSW |
1 |
6,318,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Rb1cc1
|
UTSW |
1 |
6,333,491 (GRCm39) |
splice site |
probably null |
|
|
R0510:Rb1cc1
|
UTSW |
1 |
6,319,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0512:Rb1cc1
|
UTSW |
1 |
6,318,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Rb1cc1
|
UTSW |
1 |
6,314,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0617:Rb1cc1
|
UTSW |
1 |
6,319,014 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0837:Rb1cc1
|
UTSW |
1 |
6,304,495 (GRCm39) |
splice site |
probably null |
|
|
R1399:Rb1cc1
|
UTSW |
1 |
6,320,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1532:Rb1cc1
|
UTSW |
1 |
6,319,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1542:Rb1cc1
|
UTSW |
1 |
6,314,473 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1746:Rb1cc1
|
UTSW |
1 |
6,333,237 (GRCm39) |
splice site |
probably null |
|
|
R1764:Rb1cc1
|
UTSW |
1 |
6,284,904 (GRCm39) |
intron |
probably benign |
|
|
R1968:Rb1cc1
|
UTSW |
1 |
6,318,419 (GRCm39) |
splice site |
probably null |
|
|
R2025:Rb1cc1
|
UTSW |
1 |
6,315,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rb1cc1
|
UTSW |
1 |
6,320,262 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2101:Rb1cc1
|
UTSW |
1 |
6,319,559 (GRCm39) |
missense |
probably benign |
|
|
R2249:Rb1cc1
|
UTSW |
1 |
6,342,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Rb1cc1
|
UTSW |
1 |
6,319,590 (GRCm39) |
missense |
probably benign |
|
|
R3276:Rb1cc1
|
UTSW |
1 |
6,319,590 (GRCm39) |
missense |
probably benign |
|
|
R3716:Rb1cc1
|
UTSW |
1 |
6,340,914 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3747:Rb1cc1
|
UTSW |
1 |
6,318,966 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3850:Rb1cc1
|
UTSW |
1 |
6,320,337 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3967:Rb1cc1
|
UTSW |
1 |
6,318,494 (GRCm39) |
splice site |
probably benign |
|
|
R3969:Rb1cc1
|
UTSW |
1 |
6,318,494 (GRCm39) |
splice site |
probably benign |
|
|
R3972:Rb1cc1
|
UTSW |
1 |
6,319,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4166:Rb1cc1
|
UTSW |
1 |
6,335,887 (GRCm39) |
intron |
probably benign |
|
|
R4168:Rb1cc1
|
UTSW |
1 |
6,300,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:Rb1cc1
|
UTSW |
1 |
6,315,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4370:Rb1cc1
|
UTSW |
1 |
6,318,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Rb1cc1
|
UTSW |
1 |
6,285,245 (GRCm39) |
intron |
probably benign |
|
|
R4945:Rb1cc1
|
UTSW |
1 |
6,319,851 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5111:Rb1cc1
|
UTSW |
1 |
6,284,858 (GRCm39) |
intron |
probably benign |
|
|
R5175:Rb1cc1
|
UTSW |
1 |
6,318,545 (GRCm39) |
missense |
probably benign |
|
|
R5196:Rb1cc1
|
UTSW |
1 |
6,304,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5271:Rb1cc1
|
UTSW |
1 |
6,319,417 (GRCm39) |
nonsense |
probably null |
|
|
R5341:Rb1cc1
|
UTSW |
1 |
6,285,266 (GRCm39) |
intron |
probably benign |
|
|
R5952:Rb1cc1
|
UTSW |
1 |
6,318,406 (GRCm39) |
missense |
probably benign |
|
|
R5992:Rb1cc1
|
UTSW |
1 |
6,304,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Rb1cc1
|
UTSW |
1 |
6,320,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6064:Rb1cc1
|
UTSW |
1 |
6,319,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6313:Rb1cc1
|
UTSW |
1 |
6,314,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6345:Rb1cc1
|
UTSW |
1 |
6,333,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6488:Rb1cc1
|
UTSW |
1 |
6,340,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6566:Rb1cc1
|
UTSW |
1 |
6,319,316 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6739:Rb1cc1
|
UTSW |
1 |
6,304,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6829:Rb1cc1
|
UTSW |
1 |
6,319,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6945:Rb1cc1
|
UTSW |
1 |
6,331,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Rb1cc1
|
UTSW |
1 |
6,333,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7031:Rb1cc1
|
UTSW |
1 |
6,308,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7066:Rb1cc1
|
UTSW |
1 |
6,320,229 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7185:Rb1cc1
|
UTSW |
1 |
6,308,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Rb1cc1
|
UTSW |
1 |
6,319,416 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7448:Rb1cc1
|
UTSW |
1 |
6,315,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Rb1cc1
|
UTSW |
1 |
6,319,404 (GRCm39) |
missense |
probably benign |
|
|
R7484:Rb1cc1
|
UTSW |
1 |
6,344,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Rb1cc1
|
UTSW |
1 |
6,318,415 (GRCm39) |
missense |
probably null |
0.02 |
|
R7618:Rb1cc1
|
UTSW |
1 |
6,335,782 (GRCm39) |
splice site |
probably null |
|
|
R7681:Rb1cc1
|
UTSW |
1 |
6,310,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Rb1cc1
|
UTSW |
1 |
6,318,309 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7780:Rb1cc1
|
UTSW |
1 |
6,319,138 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Rb1cc1
|
UTSW |
1 |
6,318,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Rb1cc1
|
UTSW |
1 |
6,315,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Rb1cc1
|
UTSW |
1 |
6,333,448 (GRCm39) |
nonsense |
probably null |
|
|
R8527:Rb1cc1
|
UTSW |
1 |
6,315,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8758:Rb1cc1
|
UTSW |
1 |
6,310,451 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8843:Rb1cc1
|
UTSW |
1 |
6,315,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Rb1cc1
|
UTSW |
1 |
6,319,194 (GRCm39) |
missense |
probably benign |
|
|
R8937:Rb1cc1
|
UTSW |
1 |
6,333,441 (GRCm39) |
missense |
probably benign |
|
|
R9018:Rb1cc1
|
UTSW |
1 |
6,319,490 (GRCm39) |
missense |
probably benign |
|
|
R9106:Rb1cc1
|
UTSW |
1 |
6,319,109 (GRCm39) |
missense |
|
|
|
R9127:Rb1cc1
|
UTSW |
1 |
6,333,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Rb1cc1
|
UTSW |
1 |
6,315,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9311:Rb1cc1
|
UTSW |
1 |
6,310,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Rb1cc1
|
UTSW |
1 |
6,315,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Rb1cc1
|
UTSW |
1 |
6,314,339 (GRCm39) |
missense |
probably benign |
|
|
R9598:Rb1cc1
|
UTSW |
1 |
6,310,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Rb1cc1
|
UTSW |
1 |
6,318,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9659:Rb1cc1
|
UTSW |
1 |
6,318,673 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9799:Rb1cc1
|
UTSW |
1 |
6,315,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rb1cc1
|
UTSW |
1 |
6,319,242 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGCTCTCTCCTGATATGCCTAGAAC -3'
(R):5'- TGTAACTGAAAGCCCAATGTCTTGCTG -3'
Sequencing Primer
(F):5'- TTGGTAACCTCATTTCACAAGTC -3'
(R):5'- GGTGCTTACTGCAAAAAGACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation