Incidental Mutation 'R1968:Rb1cc1'
| ID |
219140 |
| 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 |
039981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 6318419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000162795]
[ENSMUST00000162795]
|
| AlphaFold |
Q9ESK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027040
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
| 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 |
probably null
Transcript: ENSMUST00000161327
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
| 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 |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,397,193 (GRCm39) |
Y180H |
possibly damaging |
Het |
| Abcc10 |
A |
T |
17: 46,633,125 (GRCm39) |
L528Q |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,136,463 (GRCm39) |
T353S |
probably benign |
Het |
| Aldh1a3 |
A |
G |
7: 66,061,248 (GRCm39) |
|
probably null |
Het |
| Aldh3b2 |
T |
A |
19: 4,030,705 (GRCm39) |
M390K |
probably benign |
Het |
| Arhgap45 |
T |
C |
10: 79,863,536 (GRCm39) |
I793T |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,067 (GRCm39) |
M253V |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,048,312 (GRCm39) |
D258G |
possibly damaging |
Het |
| Atf1 |
G |
T |
15: 100,152,395 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
C |
T |
1: 172,067,731 (GRCm39) |
E511K |
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,825,000 (GRCm39) |
V777A |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,947,122 (GRCm39) |
T1173A |
possibly damaging |
Het |
| Bdh2 |
A |
T |
3: 134,991,370 (GRCm39) |
D15V |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,576,240 (GRCm39) |
Y69C |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,440 (GRCm39) |
L387P |
probably benign |
Het |
| Cat |
T |
C |
2: 103,315,334 (GRCm39) |
E17G |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,259,091 (GRCm39) |
I54M |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,353,965 (GRCm39) |
Y275C |
probably damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,801,682 (GRCm39) |
I754L |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,856,313 (GRCm39) |
T368I |
probably benign |
Het |
| Cep126 |
C |
A |
9: 8,100,909 (GRCm39) |
D542Y |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,772,594 (GRCm39) |
S660P |
possibly damaging |
Het |
| Cfap70 |
A |
T |
14: 20,470,879 (GRCm39) |
S455R |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,458,450 (GRCm39) |
M886T |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,416,688 (GRCm39) |
S1098P |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,260,533 (GRCm39) |
I204N |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,666,291 (GRCm39) |
R1107H |
probably damaging |
Het |
| Cramp1 |
T |
C |
17: 25,183,913 (GRCm39) |
D1234G |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,245,867 (GRCm39) |
I275L |
probably benign |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,435 (GRCm39) |
E457G |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,273,749 (GRCm39) |
T410A |
probably benign |
Het |
| Cyp2d22 |
G |
C |
15: 82,257,373 (GRCm39) |
T264S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,790,088 (GRCm39) |
R390W |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,053 (GRCm39) |
S226G |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,074,544 (GRCm39) |
D91G |
possibly damaging |
Het |
| Dglucy |
T |
C |
12: 100,825,903 (GRCm39) |
V515A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,214,187 (GRCm39) |
L734* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,579,307 (GRCm39) |
N1690D |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,347 (GRCm39) |
Y356H |
probably benign |
Het |
| Fut7 |
T |
A |
2: 25,315,738 (GRCm39) |
V332D |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,140,526 (GRCm39) |
S232P |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,017,106 (GRCm39) |
E522G |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,970 (GRCm39) |
T297A |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,109,304 (GRCm39) |
S180P |
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,435 (GRCm39) |
P584S |
possibly damaging |
Het |
| Irag2 |
T |
A |
6: 145,115,499 (GRCm39) |
S310T |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,641,729 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
T |
10: 67,061,219 (GRCm39) |
S1191C |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,717,565 (GRCm39) |
N147S |
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,266 (GRCm39) |
T506I |
probably damaging |
Het |
| Mat1a |
A |
T |
14: 40,832,991 (GRCm39) |
E58V |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,845,470 (GRCm39) |
Y1413H |
probably damaging |
Het |
| Mpp3 |
C |
A |
11: 101,909,378 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
T |
A |
1: 59,183,961 (GRCm39) |
I260F |
probably damaging |
Het |
| Myocd |
C |
A |
11: 65,091,733 (GRCm39) |
G70C |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nckap5 |
T |
A |
1: 125,942,367 (GRCm39) |
D209V |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,264,366 (GRCm39) |
K707R |
probably benign |
Het |
| Npr3 |
A |
G |
15: 11,905,055 (GRCm39) |
L224S |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,549 (GRCm39) |
L155Q |
probably damaging |
Het |
| Or5w20 |
T |
A |
2: 87,727,383 (GRCm39) |
V280E |
probably damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,602 (GRCm39) |
S36G |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,545,998 (GRCm39) |
D467N |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,350,640 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
G |
A |
10: 7,516,474 (GRCm39) |
R179* |
probably null |
Het |
| Phkb |
T |
A |
8: 86,697,580 (GRCm39) |
V463D |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,250,208 (GRCm39) |
V175A |
probably damaging |
Het |
| Rasl11b |
T |
G |
5: 74,356,797 (GRCm39) |
I58S |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,913,771 (GRCm39) |
|
probably null |
Het |
| Riox1 |
G |
T |
12: 83,998,156 (GRCm39) |
D231Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,005,617 (GRCm39) |
N1231I |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,530 (GRCm39) |
D291G |
possibly damaging |
Het |
| Samsn1 |
C |
T |
16: 75,742,461 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
C |
14: 65,927,249 (GRCm39) |
C49R |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,521,785 (GRCm39) |
D92G |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,656,858 (GRCm39) |
L153Q |
probably damaging |
Het |
| Sh3rf3 |
C |
T |
10: 58,649,809 (GRCm39) |
T138M |
probably benign |
Het |
| Shkbp1 |
C |
T |
7: 27,054,825 (GRCm39) |
|
probably null |
Het |
| Slc22a29 |
G |
A |
19: 8,195,707 (GRCm39) |
P111S |
probably benign |
Het |
| Smarca1 |
A |
G |
X: 46,941,564 (GRCm39) |
V618A |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,609,602 (GRCm39) |
M1308L |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,123,775 (GRCm39) |
N354S |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,465 (GRCm39) |
S2370P |
probably damaging |
Het |
| Ssxb3 |
A |
T |
X: 8,454,905 (GRCm39) |
I28N |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,831,119 (GRCm39) |
T411A |
probably damaging |
Het |
| Tex38 |
A |
C |
4: 115,637,537 (GRCm39) |
S89A |
probably benign |
Het |
| Tjp2 |
A |
T |
19: 24,088,437 (GRCm39) |
D723E |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,183 (GRCm39) |
N1121K |
probably damaging |
Het |
| Tti1 |
T |
C |
2: 157,850,966 (GRCm39) |
E91G |
possibly damaging |
Het |
| Wbp2 |
A |
T |
11: 115,973,191 (GRCm39) |
M72K |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,828,001 (GRCm39) |
C1062F |
possibly damaging |
Het |
| Wiz |
A |
G |
17: 32,578,346 (GRCm39) |
Y389H |
probably damaging |
Het |
| Zcchc3 |
T |
C |
2: 152,256,012 (GRCm39) |
K229R |
probably damaging |
Het |
| Zmat3 |
C |
A |
3: 32,415,131 (GRCm39) |
D60Y |
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 |
|
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 |
|
|
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'- AAGGACTGACTATGCTGTTCATTG -3'
(R):5'- TGTCCTGAACAGTTAGTGGAGG -3'
Sequencing Primer
(F):5'- TGCTGTTCATTGTTTTTAAGAGAATG -3'
(R):5'- AACAGTTAGTGGAGGAGGAGTTTTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation