Incidental Mutation 'R0616:Rb1cc1'
ID |
58276 |
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 |
038805-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0616 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6314486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 386
(K386R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000162795]
|
AlphaFold |
Q9ESK9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027040
AA Change: K386R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027040 Gene: ENSMUSG00000025907 AA Change: K386R
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 |
unknown
Transcript: ENSMUST00000161327
AA Change: K265R
|
SMART Domains |
Protein: ENSMUSP00000125348 Gene: ENSMUSG00000025907 AA Change: K265R
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 benign
Transcript: ENSMUST00000162257
|
SMART Domains |
Protein: ENSMUSP00000125334 Gene: ENSMUSG00000025907
Domain | Start | End | E-Value | Type |
coiled coil region
|
33 |
331 |
N/A |
INTRINSIC |
low complexity region
|
335 |
355 |
N/A |
INTRINSIC |
coiled coil region
|
363 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162795
AA Change: K386R
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124676 Gene: ENSMUSG00000025907 AA Change: K386R
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,341,830 (GRCm39) |
Q1044K |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,474,433 (GRCm39) |
T723S |
probably damaging |
Het |
Ackr3 |
G |
A |
1: 90,142,191 (GRCm39) |
V217I |
probably benign |
Het |
Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,050,857 (GRCm39) |
R1152G |
possibly damaging |
Het |
Arhgap15 |
G |
A |
2: 44,006,729 (GRCm39) |
|
probably null |
Het |
Arhgap5 |
C |
T |
12: 52,563,848 (GRCm39) |
T273I |
possibly damaging |
Het |
Armh4 |
G |
T |
14: 50,011,113 (GRCm39) |
T198K |
possibly damaging |
Het |
C1s2 |
T |
C |
6: 124,605,723 (GRCm39) |
E332G |
probably damaging |
Het |
Camp |
G |
A |
9: 109,677,707 (GRCm39) |
R88W |
probably benign |
Het |
Cdkl2 |
A |
G |
5: 92,156,863 (GRCm39) |
M564T |
probably benign |
Het |
Ceacam20 |
A |
G |
7: 19,704,321 (GRCm39) |
H124R |
probably benign |
Het |
Cep19 |
C |
T |
16: 31,922,829 (GRCm39) |
R32C |
probably damaging |
Het |
Cep295 |
G |
A |
9: 15,243,618 (GRCm39) |
Q1565* |
probably null |
Het |
Chd3 |
T |
C |
11: 69,236,313 (GRCm39) |
E1932G |
probably damaging |
Het |
Cibar1 |
G |
A |
4: 12,168,234 (GRCm39) |
R210* |
probably null |
Het |
Cnr2 |
G |
T |
4: 135,644,873 (GRCm39) |
W317L |
probably benign |
Het |
Cntnap5a |
C |
T |
1: 116,508,279 (GRCm39) |
H1264Y |
possibly damaging |
Het |
Depdc7 |
T |
A |
2: 104,557,650 (GRCm39) |
N200I |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,754,414 (GRCm39) |
S468P |
probably benign |
Het |
Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
Fam217a |
C |
A |
13: 35,097,666 (GRCm39) |
S55I |
probably benign |
Het |
Farp1 |
G |
A |
14: 121,514,434 (GRCm39) |
R921H |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,997,019 (GRCm39) |
D1746G |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,392,517 (GRCm39) |
F100L |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,836,991 (GRCm39) |
T458K |
possibly damaging |
Het |
Gm4841 |
T |
C |
18: 60,404,009 (GRCm39) |
Y28C |
probably benign |
Het |
Gprc5d |
T |
C |
6: 135,093,430 (GRCm39) |
E159G |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,538 (GRCm39) |
I757N |
probably damaging |
Het |
Hagh |
A |
G |
17: 25,076,551 (GRCm39) |
Y94C |
probably damaging |
Het |
Hycc1 |
T |
C |
5: 24,191,770 (GRCm39) |
T44A |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,249,301 (GRCm39) |
I892T |
probably damaging |
Het |
Kcmf1 |
T |
C |
6: 72,827,467 (GRCm39) |
I58V |
probably benign |
Het |
Khdrbs2 |
A |
G |
1: 32,506,856 (GRCm39) |
I167V |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,504,250 (GRCm39) |
I275T |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,310,388 (GRCm39) |
K442R |
probably benign |
Het |
Mak |
T |
C |
13: 41,195,661 (GRCm39) |
N382D |
probably benign |
Het |
Maob |
G |
A |
X: 16,576,402 (GRCm39) |
T480I |
possibly damaging |
Het |
Mcoln1 |
A |
G |
8: 3,565,025 (GRCm39) |
E573G |
probably benign |
Het |
Ms4a6b |
G |
A |
19: 11,504,262 (GRCm39) |
|
probably null |
Het |
Muc5ac |
A |
G |
7: 141,349,981 (GRCm39) |
M576V |
probably benign |
Het |
Nme8 |
T |
A |
13: 19,875,029 (GRCm39) |
D126V |
probably benign |
Het |
Npy2r |
T |
A |
3: 82,448,670 (GRCm39) |
D35V |
possibly damaging |
Het |
Nrxn1 |
T |
C |
17: 90,670,285 (GRCm39) |
D193G |
probably damaging |
Het |
Or2g7 |
A |
C |
17: 38,378,131 (GRCm39) |
E23A |
probably damaging |
Het |
Or2y1e |
T |
C |
11: 49,218,583 (GRCm39) |
L115P |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,935 (GRCm39) |
V255E |
probably benign |
Het |
Or4d5 |
A |
T |
9: 40,012,283 (GRCm39) |
F168I |
probably damaging |
Het |
Or52b4i |
T |
A |
7: 102,191,761 (GRCm39) |
M206K |
possibly damaging |
Het |
Or6d14 |
A |
G |
6: 116,533,889 (GRCm39) |
I168V |
probably benign |
Het |
Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
Or8c17 |
G |
T |
9: 38,180,630 (GRCm39) |
V266L |
probably benign |
Het |
Or8g18 |
G |
A |
9: 39,148,946 (GRCm39) |
T258M |
probably benign |
Het |
Pabpc2 |
A |
T |
18: 39,906,792 (GRCm39) |
H19L |
possibly damaging |
Het |
Pcdhb9 |
A |
T |
18: 37,535,028 (GRCm39) |
K341* |
probably null |
Het |
Pde4dip |
T |
C |
3: 97,654,849 (GRCm39) |
I859M |
probably benign |
Het |
Pfkfb2 |
T |
C |
1: 130,634,159 (GRCm39) |
|
probably null |
Het |
Pigg |
C |
T |
5: 108,461,951 (GRCm39) |
T94M |
probably damaging |
Het |
Pik3c2b |
T |
C |
1: 133,028,569 (GRCm39) |
F1353L |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,336,462 (GRCm39) |
D87G |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,508,271 (GRCm39) |
D974V |
probably damaging |
Het |
Prmt3 |
A |
G |
7: 49,437,076 (GRCm39) |
Y217C |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,382,118 (GRCm39) |
T192A |
probably damaging |
Het |
Rab3d |
G |
A |
9: 21,826,060 (GRCm39) |
T118M |
probably damaging |
Het |
Rcn2 |
A |
G |
9: 55,963,534 (GRCm39) |
D221G |
probably benign |
Het |
Rhbdl3 |
T |
G |
11: 80,222,687 (GRCm39) |
H245Q |
probably damaging |
Het |
Ribc1 |
T |
C |
X: 150,788,787 (GRCm39) |
E204G |
probably damaging |
Het |
Rpap1 |
G |
A |
2: 119,608,601 (GRCm39) |
L254F |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,880,988 (GRCm39) |
F148L |
possibly damaging |
Het |
Rusf1 |
A |
T |
7: 127,871,803 (GRCm39) |
|
probably null |
Het |
Setdb1 |
A |
T |
3: 95,249,109 (GRCm39) |
I333K |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,694,845 (GRCm39) |
I1210V |
probably benign |
Het |
Smchd1 |
T |
A |
17: 71,686,569 (GRCm39) |
D1379V |
probably benign |
Het |
Snap29 |
A |
T |
16: 17,240,370 (GRCm39) |
K159* |
probably null |
Het |
Spdye4c |
A |
T |
2: 128,436,132 (GRCm39) |
K176M |
possibly damaging |
Het |
Stk31 |
T |
A |
6: 49,400,419 (GRCm39) |
W415R |
probably damaging |
Het |
Supt6 |
C |
T |
11: 78,100,321 (GRCm39) |
R1497Q |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,729,191 (GRCm39) |
I1605T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,676,967 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,728,011 (GRCm39) |
|
probably benign |
Het |
Ucp3 |
A |
T |
7: 100,129,368 (GRCm39) |
T68S |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,237,336 (GRCm39) |
N316D |
probably benign |
Het |
Usp4 |
T |
G |
9: 108,244,003 (GRCm39) |
S247A |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,606,613 (GRCm39) |
V1653D |
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,250 (GRCm39) |
I18V |
probably benign |
Het |
Vmn1r237 |
A |
G |
17: 21,534,885 (GRCm39) |
M203V |
probably damaging |
Het |
Vmn1r61 |
A |
T |
7: 5,613,998 (GRCm39) |
F105L |
possibly damaging |
Het |
Zfp462 |
T |
C |
4: 55,011,951 (GRCm39) |
C158R |
probably damaging |
Het |
Zfyve16 |
C |
G |
13: 92,657,637 (GRCm39) |
R758P |
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 |
|
R0482:Rb1cc1
|
UTSW |
1 |
6,310,547 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CCAAAGAGTGGGTTTGTCATTAGCTCC -3'
(R):5'- AGGAAAACTCCAGTCCATCAAGTGTG -3'
Sequencing Primer
(F):5'- AACACCAGTTGTTTAGGATGGG -3'
(R):5'- TCCATCAAGTGTGACAAGCG -3'
|
Posted On |
2013-07-11 |