Incidental Mutation 'R0390:Rb1cc1'
| ID |
31557 |
| 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 |
038596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0390 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6318858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 759
(M759K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000162795]
|
| AlphaFold |
Q9ESK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027040
AA Change: M759K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: M759K
| 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 damaging
Transcript: ENSMUST00000161327
AA Change: M638K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: M638K
| 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 benign
Transcript: ENSMUST00000162795
AA Change: M742K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: M742K
| 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 |
0.4452 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.0%
|
| Validation Efficiency |
98% (110/112) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,359,849 (GRCm39) |
M183T |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,038,678 (GRCm39) |
I364F |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,442,784 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,751,614 (GRCm39) |
M15V |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,302 (GRCm39) |
F131S |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,340 (GRCm39) |
S321G |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,358,006 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,418,789 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,344,620 (GRCm39) |
E479G |
probably benign |
Het |
| Chrm2 |
T |
G |
6: 36,501,046 (GRCm39) |
I301R |
probably benign |
Het |
| Clec2e |
A |
G |
6: 129,070,431 (GRCm39) |
W197R |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,458,218 (GRCm39) |
S96* |
probably null |
Het |
| Col19a1 |
A |
G |
1: 24,328,736 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,027,466 (GRCm39) |
|
probably benign |
Het |
| Cthrc1 |
A |
T |
15: 38,950,159 (GRCm39) |
*172L |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,839,515 (GRCm39) |
I821N |
probably benign |
Het |
| Daam1 |
G |
C |
12: 72,022,078 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
T |
11: 100,590,090 (GRCm39) |
I398N |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,091,794 (GRCm39) |
H844Q |
probably damaging |
Het |
| Dmac2 |
A |
G |
7: 25,320,454 (GRCm39) |
D50G |
probably damaging |
Het |
| Dmxl1 |
C |
A |
18: 50,012,429 (GRCm39) |
Q1529K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,730,558 (GRCm39) |
P315L |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,524,317 (GRCm39) |
S1382P |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,201,603 (GRCm39) |
N490K |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,107,662 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,980,806 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
C |
A |
16: 9,397,449 (GRCm39) |
K879N |
possibly damaging |
Het |
| Hacd3 |
A |
C |
9: 64,908,304 (GRCm39) |
I164S |
possibly damaging |
Het |
| Hinfp |
A |
C |
9: 44,210,245 (GRCm39) |
C197G |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,945,335 (GRCm39) |
|
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,355 (GRCm39) |
L212Q |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,264,093 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
A |
G |
16: 21,900,551 (GRCm39) |
F129L |
possibly damaging |
Het |
| Kirrel3 |
T |
A |
9: 34,931,459 (GRCm39) |
I409N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,551,597 (GRCm39) |
S65R |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,540,620 (GRCm39) |
D308V |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,143 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyzl1 |
A |
T |
18: 4,169,175 (GRCm39) |
T11S |
probably benign |
Het |
| Man1c1 |
A |
G |
4: 134,305,626 (GRCm39) |
L366P |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,901,472 (GRCm39) |
M100T |
probably damaging |
Het |
| Mettl13 |
G |
A |
1: 162,366,458 (GRCm39) |
H474Y |
possibly damaging |
Het |
| Minar2 |
T |
A |
18: 59,208,760 (GRCm39) |
V136E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,451,320 (GRCm39) |
D352G |
probably benign |
Het |
| Mns1 |
T |
C |
9: 72,360,086 (GRCm39) |
I412T |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,926 (GRCm39) |
D1501G |
probably null |
Het |
| Mylk |
G |
T |
16: 34,695,990 (GRCm39) |
G242W |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,377,704 (GRCm39) |
D1715G |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,362,310 (GRCm39) |
S2P |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,618,745 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,300,193 (GRCm39) |
|
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,122,705 (GRCm39) |
D53G |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,815,628 (GRCm39) |
S561P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,352,866 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
A |
9: 21,903,004 (GRCm39) |
H442L |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,168,789 (GRCm39) |
D866V |
possibly damaging |
Het |
| Optn |
A |
G |
2: 5,051,006 (GRCm39) |
L125P |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,662 (GRCm39) |
I150V |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,730,564 (GRCm39) |
F588Y |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,269,850 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
G |
3: 122,629,232 (GRCm39) |
C635W |
probably damaging |
Het |
| Pdgfb |
A |
T |
15: 79,887,620 (GRCm39) |
|
probably null |
Het |
| Pih1d2 |
T |
A |
9: 50,532,346 (GRCm39) |
C135S |
probably damaging |
Het |
| Plcg1 |
G |
T |
2: 160,594,286 (GRCm39) |
C361F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,567,619 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
T |
A |
4: 143,538,269 (GRCm39) |
D234V |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,260,564 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prss56 |
T |
G |
1: 87,112,452 (GRCm39) |
|
probably null |
Het |
| Prtg |
A |
G |
9: 72,752,240 (GRCm39) |
K209E |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,050,313 (GRCm39) |
T36I |
possibly damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,845,285 (GRCm39) |
Y302C |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,763,197 (GRCm39) |
M324L |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,987 (GRCm39) |
V500A |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,180,451 (GRCm39) |
K434R |
probably damaging |
Het |
| Rims1 |
C |
T |
1: 22,635,607 (GRCm39) |
A125T |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,473 (GRCm39) |
V746A |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,557,820 (GRCm39) |
E1340K |
unknown |
Het |
| Sacs |
G |
A |
14: 61,443,089 (GRCm39) |
D1712N |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,103,402 (GRCm39) |
P19S |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,956,151 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,500,410 (GRCm39) |
I393N |
probably damaging |
Het |
| Sigmar1 |
C |
T |
4: 41,741,243 (GRCm39) |
A4T |
probably benign |
Het |
| Skint9 |
C |
A |
4: 112,246,376 (GRCm39) |
L245F |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,512,832 (GRCm39) |
L372P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,478 (GRCm39) |
I1182N |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,785,138 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,491,648 (GRCm39) |
D417G |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,216 (GRCm39) |
N31S |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,738 (GRCm39) |
D811G |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,418,442 (GRCm38) |
T1221A |
probably benign |
Het |
| Tph2 |
T |
C |
10: 115,010,014 (GRCm39) |
D182G |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,518,933 (GRCm39) |
Q141* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,587,275 (GRCm39) |
D21574G |
probably damaging |
Het |
| Uba2 |
T |
A |
7: 33,850,446 (GRCm39) |
N367I |
probably benign |
Het |
| Ube2b |
T |
C |
11: 51,879,429 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
T |
15: 38,030,916 (GRCm39) |
L426I |
probably benign |
Het |
| Ugt2a2 |
T |
A |
5: 87,612,007 (GRCm39) |
H301L |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,023,705 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,585,804 (GRCm39) |
D991G |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,140 (GRCm39) |
D734G |
probably damaging |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vwf |
T |
A |
6: 125,603,324 (GRCm39) |
Y891* |
probably null |
Het |
| Wwox |
C |
T |
8: 115,433,018 (GRCm39) |
T228I |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,998,225 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
C |
T |
7: 23,804,132 (GRCm39) |
H184Y |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,487 (GRCm39) |
Y279N |
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 |
|
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 |
|
|
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'- AGGTATCCACAAGTCAGGCATCCC -3'
(R):5'- TGTTCTGAAATGGCACAGATCGTCC -3'
Sequencing Primer
(F):5'- ACACCTTATGTCCGGCAGTG -3'
(R):5'- CGTCCTTGATGGTTTGTATACTGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation