Incidental Mutation 'R0254:Rb1cc1'
| ID |
34520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rb1cc1
|
| Ensembl Gene |
ENSMUSG00000025907 |
| Gene Name |
RB1-inducible coiled-coil 1 |
| Synonyms |
Cc1, 2900055E04Rik, LaXp180, 5930404L04Rik, Fip200 |
| MMRRC Submission |
038485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0254 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6206197-6276648 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6262847 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1330
(T1330I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000159530]
|
| AlphaFold |
Q9ESK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027040
AA Change: T1330I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: T1330I
| 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: ENSMUST00000159349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159530
|
| SMART Domains |
Protein: ENSMUSP00000124220
Gene: ENSMUSG00000025907
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:ATG11
|
84 |
223 |
1.8e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161183
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161327
AA Change: T1209I
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: T1209I
| 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: T420I
|
| SMART Domains |
Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
AA Change: T420I
| 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 |
noncoding transcript
Transcript: ENSMUST00000162418
|
| Meta Mutation Damage Score |
0.3384 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
100% (100/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,952,404 (GRCm38) |
M252L |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,236,789 (GRCm38) |
V314A |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,827,409 (GRCm38) |
E656D |
probably benign |
Het |
| Abhd4 |
T |
C |
14: 54,263,234 (GRCm38) |
I160T |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,889,356 (GRCm38) |
V32A |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,554,144 (GRCm38) |
|
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,736,604 (GRCm38) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 81,076,974 (GRCm38) |
T136S |
probably benign |
Het |
| Ap1g1 |
G |
T |
8: 109,803,117 (GRCm38) |
M56I |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,370,571 (GRCm38) |
T855I |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,629,095 (GRCm38) |
F308L |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,514,819 (GRCm38) |
N371Y |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,812,110 (GRCm38) |
M378K |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,981,512 (GRCm38) |
|
probably benign |
Het |
| Blk |
C |
A |
14: 63,380,804 (GRCm38) |
A218S |
probably benign |
Het |
| C4b |
T |
A |
17: 34,734,776 (GRCm38) |
T953S |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,575,907 (GRCm38) |
|
probably benign |
Het |
| Cdca2 |
C |
A |
14: 67,677,178 (GRCm38) |
L877F |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,778,308 (GRCm38) |
V83L |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,514,574 (GRCm38) |
I677F |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,617,332 (GRCm38) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,064,803 (GRCm38) |
|
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,845,252 (GRCm38) |
V405D |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,739,594 (GRCm38) |
T13A |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,897,410 (GRCm38) |
E1835G |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,476,035 (GRCm38) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,440,514 (GRCm38) |
T1014A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,424,694 (GRCm38) |
N1332S |
probably benign |
Het |
| Efnb1 |
T |
C |
X: 99,137,028 (GRCm38) |
|
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,308,190 (GRCm38) |
P33Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,503,402 (GRCm38) |
G633D |
probably damaging |
Het |
| Gm10288 |
T |
C |
3: 146,838,920 (GRCm38) |
|
noncoding transcript |
Het |
| Gm14139 |
G |
A |
2: 150,191,864 (GRCm38) |
R35K |
possibly damaging |
Het |
| Gm7714 |
A |
T |
5: 88,282,371 (GRCm38) |
H42L |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 95,869,538 (GRCm38) |
N318S |
probably benign |
Het |
| Guk1 |
A |
T |
11: 59,186,028 (GRCm38) |
F76L |
probably damaging |
Het |
| H2-K1 |
A |
T |
17: 33,996,665 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 181,232,759 (GRCm38) |
G1981C |
probably damaging |
Het |
| Hinfp |
G |
A |
9: 44,298,239 (GRCm38) |
H250Y |
probably damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,652,268 (GRCm38) |
|
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 105,523,067 (GRCm38) |
V270E |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,658,203 (GRCm38) |
M81K |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,411,509 (GRCm38) |
T815A |
probably benign |
Het |
| Kit |
G |
A |
5: 75,620,921 (GRCm38) |
V337I |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,653,583 (GRCm38) |
S6P |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,723,821 (GRCm38) |
V193A |
probably benign |
Het |
| Krt73 |
T |
A |
15: 101,799,889 (GRCm38) |
|
probably benign |
Het |
| L1td1 |
T |
A |
4: 98,737,182 (GRCm38) |
L538* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,432,779 (GRCm38) |
L2061P |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,884,016 (GRCm38) |
I900T |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,900,200 (GRCm38) |
N371K |
possibly damaging |
Het |
| Mepce |
A |
C |
5: 137,785,436 (GRCm38) |
D209E |
possibly damaging |
Het |
| Mrc2 |
C |
G |
11: 105,347,866 (GRCm38) |
P1249R |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,556,095 (GRCm38) |
I463L |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,265,135 (GRCm38) |
N73K |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,147,945 (GRCm38) |
L404Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,243,390 (GRCm38) |
Y3379H |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,472,985 (GRCm38) |
E120G |
probably damaging |
Het |
| Olfr1276 |
A |
C |
2: 111,257,121 (GRCm38) |
N2T |
probably benign |
Het |
| Olfr561 |
C |
A |
7: 102,774,869 (GRCm38) |
S115* |
probably null |
Het |
| Olfr615 |
T |
A |
7: 103,560,622 (GRCm38) |
Y48* |
probably null |
Het |
| Olfr643 |
T |
C |
7: 104,059,521 (GRCm38) |
H27R |
probably benign |
Het |
| Olfr736 |
T |
C |
14: 50,393,079 (GRCm38) |
S108P |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,392,580 (GRCm38) |
F1584L |
probably benign |
Het |
| Pdgfra |
G |
A |
5: 75,167,935 (GRCm38) |
V243I |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,743,671 (GRCm38) |
I689V |
possibly damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,324,224 (GRCm38) |
|
probably benign |
Het |
| Prmt8 |
C |
A |
6: 127,711,808 (GRCm38) |
V200L |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,506,362 (GRCm38) |
I2007N |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,728,150 (GRCm38) |
E230G |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,563,148 (GRCm38) |
V195I |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 67,021,796 (GRCm38) |
T172N |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 111,294,023 (GRCm38) |
V236A |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,104,552 (GRCm38) |
I121V |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,664,170 (GRCm38) |
F11I |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,740,847 (GRCm38) |
|
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,847,946 (GRCm38) |
V117A |
probably benign |
Het |
| Scamp1 |
T |
G |
13: 94,210,580 (GRCm38) |
N192T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 101,018,364 (GRCm38) |
I1218N |
probably damaging |
Het |
| Serinc1 |
A |
G |
10: 57,523,208 (GRCm38) |
S200P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,334,591 (GRCm38) |
F358Y |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,997,245 (GRCm38) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 76,070,628 (GRCm38) |
M386V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 80,704,700 (GRCm38) |
F963L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,411,891 (GRCm38) |
F828I |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,897,960 (GRCm38) |
Q1333K |
probably benign |
Het |
| Svop |
T |
C |
5: 114,038,539 (GRCm38) |
S349G |
probably benign |
Het |
| Tdrd1 |
G |
A |
19: 56,842,566 (GRCm38) |
S271N |
probably benign |
Het |
| Tec |
G |
A |
5: 72,783,738 (GRCm38) |
P159S |
probably benign |
Het |
| Tec |
T |
C |
5: 72,763,556 (GRCm38) |
|
probably benign |
Het |
| Tfip11 |
G |
A |
5: 112,335,655 (GRCm38) |
M645I |
probably benign |
Het |
| Thap12 |
A |
T |
7: 98,715,281 (GRCm38) |
T219S |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,375,507 (GRCm38) |
R329H |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,343,745 (GRCm38) |
Y227H |
probably damaging |
Het |
| Urah |
G |
A |
7: 140,837,689 (GRCm38) |
V114I |
probably benign |
Het |
| Wnt5a |
G |
A |
14: 28,522,854 (GRCm38) |
E353K |
probably damaging |
Het |
| Zfp101 |
A |
T |
17: 33,380,978 (GRCm38) |
H601Q |
possibly damaging |
Het |
|
| Other mutations in Rb1cc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Rb1cc1
|
APN |
1 |
6,249,506 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00590:Rb1cc1
|
APN |
1 |
6,238,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00678:Rb1cc1
|
APN |
1 |
6,234,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00705:Rb1cc1
|
APN |
1 |
6,244,133 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00957:Rb1cc1
|
APN |
1 |
6,249,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01363:Rb1cc1
|
APN |
1 |
6,250,109 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01599:Rb1cc1
|
APN |
1 |
6,248,771 (GRCm38) |
nonsense |
probably null |
|
|
IGL01610:Rb1cc1
|
APN |
1 |
6,248,481 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01929:Rb1cc1
|
APN |
1 |
6,240,159 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01978:Rb1cc1
|
APN |
1 |
6,238,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02312:Rb1cc1
|
APN |
1 |
6,265,623 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02471:Rb1cc1
|
APN |
1 |
6,240,051 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02677:Rb1cc1
|
APN |
1 |
6,249,419 (GRCm38) |
missense |
probably benign |
|
|
IGL02702:Rb1cc1
|
APN |
1 |
6,240,023 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02816:Rb1cc1
|
APN |
1 |
6,262,828 (GRCm38) |
splice site |
probably benign |
|
|
IGL02899:Rb1cc1
|
APN |
1 |
6,264,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
fingerling
|
UTSW |
1 |
6,261,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tots
|
UTSW |
1 |
6,245,637 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02988:Rb1cc1
|
UTSW |
1 |
6,247,811 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0020:Rb1cc1
|
UTSW |
1 |
6,264,548 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0390:Rb1cc1
|
UTSW |
1 |
6,248,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0466:Rb1cc1
|
UTSW |
1 |
6,263,267 (GRCm38) |
splice site |
probably null |
|
|
R0482:Rb1cc1
|
UTSW |
1 |
6,240,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0510:Rb1cc1
|
UTSW |
1 |
6,249,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0512:Rb1cc1
|
UTSW |
1 |
6,248,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0616:Rb1cc1
|
UTSW |
1 |
6,244,262 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0617:Rb1cc1
|
UTSW |
1 |
6,248,790 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0837:Rb1cc1
|
UTSW |
1 |
6,234,271 (GRCm38) |
splice site |
probably null |
|
|
R1399:Rb1cc1
|
UTSW |
1 |
6,249,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1532:Rb1cc1
|
UTSW |
1 |
6,249,734 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1542:Rb1cc1
|
UTSW |
1 |
6,244,249 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1746:Rb1cc1
|
UTSW |
1 |
6,263,013 (GRCm38) |
splice site |
probably null |
|
|
R1764:Rb1cc1
|
UTSW |
1 |
6,214,680 (GRCm38) |
intron |
probably benign |
|
|
R1968:Rb1cc1
|
UTSW |
1 |
6,248,195 (GRCm38) |
splice site |
probably null |
|
|
R2025:Rb1cc1
|
UTSW |
1 |
6,245,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2076:Rb1cc1
|
UTSW |
1 |
6,250,038 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2101:Rb1cc1
|
UTSW |
1 |
6,249,335 (GRCm38) |
missense |
probably benign |
|
|
R2249:Rb1cc1
|
UTSW |
1 |
6,272,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3176:Rb1cc1
|
UTSW |
1 |
6,249,366 (GRCm38) |
missense |
probably benign |
|
|
R3276:Rb1cc1
|
UTSW |
1 |
6,249,366 (GRCm38) |
missense |
probably benign |
|
|
R3716:Rb1cc1
|
UTSW |
1 |
6,270,690 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3747:Rb1cc1
|
UTSW |
1 |
6,248,742 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3850:Rb1cc1
|
UTSW |
1 |
6,250,113 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3967:Rb1cc1
|
UTSW |
1 |
6,248,270 (GRCm38) |
splice site |
probably benign |
|
|
R3969:Rb1cc1
|
UTSW |
1 |
6,248,270 (GRCm38) |
splice site |
probably benign |
|
|
R3972:Rb1cc1
|
UTSW |
1 |
6,249,000 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4166:Rb1cc1
|
UTSW |
1 |
6,265,663 (GRCm38) |
intron |
probably benign |
|
|
R4168:Rb1cc1
|
UTSW |
1 |
6,230,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4358:Rb1cc1
|
UTSW |
1 |
6,245,637 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4370:Rb1cc1
|
UTSW |
1 |
6,248,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4869:Rb1cc1
|
UTSW |
1 |
6,215,021 (GRCm38) |
intron |
probably benign |
|
|
R4945:Rb1cc1
|
UTSW |
1 |
6,249,627 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5111:Rb1cc1
|
UTSW |
1 |
6,214,634 (GRCm38) |
intron |
probably benign |
|
|
R5175:Rb1cc1
|
UTSW |
1 |
6,248,321 (GRCm38) |
missense |
probably benign |
|
|
R5196:Rb1cc1
|
UTSW |
1 |
6,234,230 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5271:Rb1cc1
|
UTSW |
1 |
6,249,193 (GRCm38) |
nonsense |
probably null |
|
|
R5341:Rb1cc1
|
UTSW |
1 |
6,215,042 (GRCm38) |
intron |
probably benign |
|
|
R5952:Rb1cc1
|
UTSW |
1 |
6,248,182 (GRCm38) |
missense |
probably benign |
|
|
R5992:Rb1cc1
|
UTSW |
1 |
6,233,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6054:Rb1cc1
|
UTSW |
1 |
6,249,834 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6064:Rb1cc1
|
UTSW |
1 |
6,249,734 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6313:Rb1cc1
|
UTSW |
1 |
6,244,133 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6345:Rb1cc1
|
UTSW |
1 |
6,263,257 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6488:Rb1cc1
|
UTSW |
1 |
6,270,727 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6566:Rb1cc1
|
UTSW |
1 |
6,249,092 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6739:Rb1cc1
|
UTSW |
1 |
6,234,230 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6829:Rb1cc1
|
UTSW |
1 |
6,249,264 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6945:Rb1cc1
|
UTSW |
1 |
6,261,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6976:Rb1cc1
|
UTSW |
1 |
6,262,902 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7031:Rb1cc1
|
UTSW |
1 |
6,238,466 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7066:Rb1cc1
|
UTSW |
1 |
6,250,005 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7185:Rb1cc1
|
UTSW |
1 |
6,238,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7276:Rb1cc1
|
UTSW |
1 |
6,249,192 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7448:Rb1cc1
|
UTSW |
1 |
6,245,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7463:Rb1cc1
|
UTSW |
1 |
6,249,180 (GRCm38) |
missense |
probably benign |
|
|
R7484:Rb1cc1
|
UTSW |
1 |
6,274,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7496:Rb1cc1
|
UTSW |
1 |
6,248,191 (GRCm38) |
missense |
probably null |
0.02 |
|
R7618:Rb1cc1
|
UTSW |
1 |
6,265,558 (GRCm38) |
splice site |
probably null |
|
|
R7681:Rb1cc1
|
UTSW |
1 |
6,240,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7774:Rb1cc1
|
UTSW |
1 |
6,248,085 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7780:Rb1cc1
|
UTSW |
1 |
6,248,914 (GRCm38) |
nonsense |
probably null |
|
|
R7947:Rb1cc1
|
UTSW |
1 |
6,248,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8057:Rb1cc1
|
UTSW |
1 |
6,245,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Rb1cc1
|
UTSW |
1 |
6,263,224 (GRCm38) |
nonsense |
probably null |
|
|
R8527:Rb1cc1
|
UTSW |
1 |
6,244,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8758:Rb1cc1
|
UTSW |
1 |
6,240,227 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8843:Rb1cc1
|
UTSW |
1 |
6,245,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8922:Rb1cc1
|
UTSW |
1 |
6,248,970 (GRCm38) |
missense |
probably benign |
|
|
R8937:Rb1cc1
|
UTSW |
1 |
6,263,217 (GRCm38) |
missense |
probably benign |
|
|
R9018:Rb1cc1
|
UTSW |
1 |
6,249,266 (GRCm38) |
missense |
probably benign |
|
|
R9106:Rb1cc1
|
UTSW |
1 |
6,248,885 (GRCm38) |
missense |
|
|
|
R9127:Rb1cc1
|
UTSW |
1 |
6,262,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9130:Rb1cc1
|
UTSW |
1 |
6,244,885 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9311:Rb1cc1
|
UTSW |
1 |
6,240,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9365:Rb1cc1
|
UTSW |
1 |
6,244,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9563:Rb1cc1
|
UTSW |
1 |
6,244,115 (GRCm38) |
missense |
probably benign |
|
|
R9598:Rb1cc1
|
UTSW |
1 |
6,239,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9608:Rb1cc1
|
UTSW |
1 |
6,248,304 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9659:Rb1cc1
|
UTSW |
1 |
6,248,449 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9799:Rb1cc1
|
UTSW |
1 |
6,244,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Rb1cc1
|
UTSW |
1 |
6,249,018 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTGTCATCGCTATGGAGGCCC -3'
(R):5'- GCTGCTTCTTCTCTTCAAGCAAACG -3'
Sequencing Primer
(F):5'- CCTTCTCGAAAATGTCAGGC -3'
(R):5'- GTCCTCAGAGAGCGACTCTATC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation