Incidental Mutation 'R0510:Rb1cc1'
ID |
47765 |
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 |
038704-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0510 (G1)
|
Quality Score |
143 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 6319395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 938
(K938T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000162795]
|
AlphaFold |
Q9ESK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027040
AA Change: K938T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027040 Gene: ENSMUSG00000025907 AA Change: K938T
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: ENSMUST00000159206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159802
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161327
AA Change: K817T
|
SMART Domains |
Protein: ENSMUSP00000125348 Gene: ENSMUSG00000025907 AA Change: K817T
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 |
unknown
Transcript: ENSMUST00000162257
AA Change: K28T
|
SMART Domains |
Protein: ENSMUSP00000125334 Gene: ENSMUSG00000025907 AA Change: K28T
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 |
probably benign
Transcript: ENSMUST00000162795
|
SMART Domains |
Protein: ENSMUSP00000124676 Gene: ENSMUSG00000025907
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.2%
|
Validation Efficiency |
99% (102/103) |
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: 101 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,125,482 (GRCm39) |
I67T |
probably damaging |
Het |
Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
Adam10 |
T |
A |
9: 70,655,530 (GRCm39) |
W333R |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,995,596 (GRCm39) |
R5627* |
probably null |
Het |
Alms1 |
A |
T |
6: 85,597,351 (GRCm39) |
R1195* |
probably null |
Het |
Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
Brd8dc |
A |
T |
18: 34,729,204 (GRCm39) |
D42E |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ccdc110 |
T |
A |
8: 46,388,194 (GRCm39) |
N50K |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
Celsr3 |
G |
A |
9: 108,704,204 (GRCm39) |
C229Y |
possibly damaging |
Het |
Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
Col11a1 |
A |
T |
3: 113,899,105 (GRCm39) |
|
probably benign |
Het |
Cpe |
T |
A |
8: 65,064,501 (GRCm39) |
I233F |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,857 (GRCm39) |
|
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,955,045 (GRCm39) |
V272A |
probably damaging |
Het |
Creld2 |
A |
T |
15: 88,704,159 (GRCm39) |
N50I |
probably damaging |
Het |
Cyb5r1 |
T |
C |
1: 134,337,430 (GRCm39) |
|
probably benign |
Het |
Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
Defa34 |
A |
G |
8: 22,155,988 (GRCm39) |
|
probably null |
Het |
Dgat1 |
T |
C |
15: 76,395,767 (GRCm39) |
Y72C |
possibly damaging |
Het |
Efr3b |
G |
T |
12: 4,032,058 (GRCm39) |
D183E |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
Epyc |
A |
G |
10: 97,485,625 (GRCm39) |
T22A |
probably benign |
Het |
Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
Fam83b |
G |
T |
9: 76,400,108 (GRCm39) |
L332I |
possibly damaging |
Het |
Fat3 |
C |
A |
9: 15,910,981 (GRCm39) |
E1674* |
probably null |
Het |
Fbn1 |
A |
G |
2: 125,184,845 (GRCm39) |
|
probably benign |
Het |
Gm5134 |
C |
A |
10: 75,810,079 (GRCm39) |
T120N |
probably benign |
Het |
Gmip |
C |
T |
8: 70,268,259 (GRCm39) |
|
probably benign |
Het |
Gpbp1 |
G |
T |
13: 111,577,279 (GRCm39) |
Q204K |
possibly damaging |
Het |
Gpr108 |
T |
C |
17: 57,542,358 (GRCm39) |
D549G |
possibly damaging |
Het |
Gsdme |
C |
A |
6: 50,223,107 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
H2-Eb2 |
C |
T |
17: 34,553,218 (GRCm39) |
Q135* |
probably null |
Het |
Hectd4 |
T |
A |
5: 121,419,959 (GRCm39) |
Y635N |
possibly damaging |
Het |
Hectd4 |
G |
A |
5: 121,443,736 (GRCm39) |
E1319K |
possibly damaging |
Het |
Hs3st2 |
T |
C |
7: 121,099,792 (GRCm39) |
S213P |
probably damaging |
Het |
Ikbkb |
A |
T |
8: 23,161,651 (GRCm39) |
C412* |
probably null |
Het |
Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
Kcnh1 |
T |
A |
1: 192,101,249 (GRCm39) |
|
probably benign |
Het |
Kctd21 |
T |
C |
7: 96,996,748 (GRCm39) |
F74L |
probably damaging |
Het |
Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,536 (GRCm39) |
L740M |
possibly damaging |
Het |
Lrrc10 |
T |
A |
10: 116,881,695 (GRCm39) |
L123Q |
probably damaging |
Het |
Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
Mtss1 |
A |
T |
15: 58,828,387 (GRCm39) |
D175E |
probably benign |
Het |
Myef2 |
A |
T |
2: 124,950,954 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
T |
2: 52,180,755 (GRCm39) |
|
probably benign |
Het |
Or14a259 |
T |
C |
7: 86,013,035 (GRCm39) |
N170S |
probably benign |
Het |
Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
Parp3 |
A |
G |
9: 106,348,995 (GRCm39) |
F466L |
possibly damaging |
Het |
Pcdh15 |
A |
T |
10: 74,126,808 (GRCm39) |
N296Y |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,128,014 (GRCm39) |
I884N |
probably damaging |
Het |
Pim1 |
T |
C |
17: 29,712,883 (GRCm39) |
|
probably benign |
Het |
Pou6f2 |
A |
G |
13: 18,314,308 (GRCm39) |
|
probably benign |
Het |
Prelid3b |
A |
G |
2: 174,307,743 (GRCm39) |
|
probably benign |
Het |
Proc |
G |
A |
18: 32,258,171 (GRCm39) |
T258I |
probably benign |
Het |
Rab3gap2 |
T |
C |
1: 184,992,705 (GRCm39) |
|
probably benign |
Het |
Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rin2 |
A |
G |
2: 145,702,953 (GRCm39) |
K550E |
probably benign |
Het |
Rps6ka4 |
G |
T |
19: 6,817,866 (GRCm39) |
T17N |
probably benign |
Het |
Rtn4 |
T |
A |
11: 29,683,849 (GRCm39) |
|
probably benign |
Het |
Ruvbl2 |
C |
T |
7: 45,080,730 (GRCm39) |
|
probably benign |
Het |
Scaper |
A |
G |
9: 55,665,346 (GRCm39) |
|
probably benign |
Het |
Sdc2 |
T |
C |
15: 33,017,235 (GRCm39) |
|
probably benign |
Het |
Semp2l1 |
T |
A |
1: 32,584,956 (GRCm39) |
N318I |
possibly damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slco2b1 |
T |
A |
7: 99,310,743 (GRCm39) |
M603L |
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,060,991 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,065,854 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
A |
T |
5: 114,084,766 (GRCm39) |
D448E |
probably benign |
Het |
Ssmem1 |
A |
T |
6: 30,519,547 (GRCm39) |
|
probably null |
Het |
Sv2b |
T |
G |
7: 74,786,140 (GRCm39) |
M427L |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,317,600 (GRCm39) |
L498P |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,900,923 (GRCm39) |
|
probably null |
Het |
Taf6l |
G |
T |
19: 8,755,885 (GRCm39) |
H254Q |
probably benign |
Het |
Traf3ip3 |
T |
A |
1: 192,860,539 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
A |
7: 63,873,506 (GRCm39) |
G587D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,466,860 (GRCm39) |
|
probably benign |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,077,216 (GRCm39) |
S317T |
possibly damaging |
Het |
Vwa2 |
A |
G |
19: 56,886,500 (GRCm39) |
|
probably benign |
Het |
Wdr73 |
G |
A |
7: 80,547,698 (GRCm39) |
Q107* |
probably null |
Het |
Zbtb10 |
T |
A |
3: 9,329,728 (GRCm39) |
V362E |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp296 |
A |
T |
7: 19,311,831 (GRCm39) |
M113L |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,253 (GRCm39) |
V1004E |
probably benign |
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 |
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'- AGGACGATCTGTGCCATTTCAGAAC -3'
(R):5'- CTGATGTGCAGTGTGTCCTCTAATTCC -3'
Sequencing Primer
(F):5'- CTGTGCCATTTCAGAACATTTG -3'
(R):5'- CTTCAGGTGATTTTGTTCTAAGCAC -3'
|
Posted On |
2013-06-12 |