Incidental Mutation 'R9130:Rb1cc1'
| ID |
693508 |
| 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 |
068928-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6315109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 421
(I421V)
|
| 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: I421V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: I421V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: I300V
| 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: I421V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: I421V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (87/88) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
G |
11: 76,342,753 (GRCm39) |
C585R |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,202,145 (GRCm39) |
L1380S |
probably damaging |
Het |
| Aifm2 |
A |
C |
10: 61,563,505 (GRCm39) |
Q125P |
probably null |
Het |
| Ak5 |
A |
T |
3: 152,178,569 (GRCm39) |
L482* |
probably null |
Het |
| Aldh3a2 |
T |
C |
11: 61,139,758 (GRCm39) |
Q458R |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,810,565 (GRCm39) |
T524I |
|
Het |
| Apoc3 |
A |
T |
9: 46,146,481 (GRCm39) |
S25T |
unknown |
Het |
| Ash1l |
A |
T |
3: 88,965,848 (GRCm39) |
R2417* |
probably null |
Het |
| Bbs12 |
A |
G |
3: 37,373,205 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,919,146 (GRCm39) |
I1992N |
|
Het |
| Brd9 |
G |
A |
13: 74,092,906 (GRCm39) |
V299M |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,866,130 (GRCm39) |
N217K |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,678 (GRCm39) |
Y1235C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,907 (GRCm39) |
Y1538C |
|
Het |
| Ccdc172 |
T |
A |
19: 58,525,779 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Cdc6 |
A |
G |
11: 98,802,999 (GRCm39) |
D313G |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,022 (GRCm39) |
V353A |
probably damaging |
Het |
| Dlg2 |
G |
T |
7: 92,080,258 (GRCm39) |
V711F |
probably damaging |
Het |
| Dmac2 |
T |
C |
7: 25,320,448 (GRCm39) |
F49S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,173,674 (GRCm39) |
K660E |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,642,155 (GRCm39) |
S106T |
probably benign |
Het |
| Dynll1 |
T |
A |
5: 115,438,604 (GRCm39) |
I34F |
probably benign |
Het |
| Epb41l4b |
A |
G |
4: 57,103,447 (GRCm39) |
F130L |
possibly damaging |
Het |
| Erc2 |
T |
C |
14: 27,751,418 (GRCm39) |
Y705H |
probably benign |
Het |
| Exosc8 |
T |
A |
3: 54,638,503 (GRCm39) |
L160F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,001,830 (GRCm39) |
T178A |
probably benign |
Het |
| F7 |
C |
A |
8: 13,085,059 (GRCm39) |
P362T |
probably damaging |
Het |
| Fkbp3 |
T |
C |
12: 65,112,567 (GRCm39) |
K156E |
possibly damaging |
Het |
| Folh1 |
G |
A |
7: 86,368,913 (GRCm39) |
T738I |
probably benign |
Het |
| Gatad2b |
C |
T |
3: 90,255,936 (GRCm39) |
A134V |
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,057,349 (GRCm39) |
W338R |
|
Het |
| Gm21149 |
T |
C |
5: 15,680,261 (GRCm39) |
K62E |
possibly damaging |
Het |
| Gm32742 |
A |
G |
9: 51,050,049 (GRCm39) |
Y1517H |
probably damaging |
Het |
| Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
A |
T |
8: 121,295,052 (GRCm39) |
E391V |
unknown |
Het |
| Gxylt2 |
C |
T |
6: 100,710,329 (GRCm39) |
Q157* |
probably null |
Het |
| Hbq1b |
C |
T |
11: 32,237,092 (GRCm39) |
T27I |
probably damaging |
Het |
| Hoxd13 |
T |
A |
2: 74,499,382 (GRCm39) |
D243E |
probably benign |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,211 (GRCm39) |
I80F |
possibly damaging |
Het |
| Hsf2bp |
A |
T |
17: 32,230,082 (GRCm39) |
|
probably benign |
Het |
| Itch |
G |
A |
2: 155,052,045 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,215,742 (GRCm39) |
F76L |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,295,424 (GRCm39) |
T948A |
unknown |
Het |
| Kmt2c |
A |
T |
5: 25,516,102 (GRCm39) |
H2580Q |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,382,281 (GRCm39) |
T3727A |
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,147,042 (GRCm39) |
I619V |
possibly damaging |
Het |
| Mansc1 |
C |
A |
6: 134,586,951 (GRCm39) |
G409W |
probably damaging |
Het |
| Map3k11 |
C |
A |
19: 5,746,038 (GRCm39) |
L418I |
possibly damaging |
Het |
| Mettl4 |
T |
A |
17: 95,042,913 (GRCm39) |
I308L |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,739,514 (GRCm39) |
D742G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,652 (GRCm39) |
Q137R |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,427 (GRCm39) |
Y282* |
probably null |
Het |
| Nup210 |
A |
G |
6: 91,020,799 (GRCm39) |
F965S |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,185,098 (GRCm39) |
T872A |
possibly damaging |
Het |
| Or1ab2 |
G |
T |
8: 72,863,697 (GRCm39) |
G96C |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,096,358 (GRCm39) |
C139R |
probably damaging |
Het |
| Or5m8 |
T |
G |
2: 85,822,819 (GRCm39) |
Y219* |
probably null |
Het |
| Or6c68 |
A |
G |
10: 129,157,897 (GRCm39) |
N135S |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,515,245 (GRCm39) |
D696E |
possibly damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,325,729 (GRCm39) |
|
probably benign |
Het |
| Plpp1 |
A |
T |
13: 112,988,038 (GRCm39) |
I54L |
|
Het |
| Ppp4r2 |
T |
G |
6: 100,842,113 (GRCm39) |
N191K |
probably damaging |
Het |
| Ptpdc1 |
G |
T |
13: 48,739,655 (GRCm39) |
P592Q |
probably benign |
Het |
| Qrich2 |
A |
T |
11: 116,347,692 (GRCm39) |
L1044* |
probably null |
Het |
| Ripor3 |
A |
T |
2: 167,823,267 (GRCm39) |
C881* |
probably null |
Het |
| Rreb1 |
T |
C |
13: 38,114,282 (GRCm39) |
F547S |
probably benign |
Het |
| Scel |
T |
C |
14: 103,770,746 (GRCm39) |
V60A |
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,442,419 (GRCm39) |
A1771T |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,469,631 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
C |
T |
11: 82,851,446 (GRCm39) |
T581I |
probably damaging |
Het |
| Ssh3 |
A |
C |
19: 4,314,113 (GRCm39) |
V412G |
probably damaging |
Het |
| Stx17 |
T |
G |
4: 48,159,071 (GRCm39) |
|
probably benign |
Het |
| Sun3 |
T |
G |
11: 8,968,170 (GRCm39) |
T274P |
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,875,464 (GRCm39) |
T427A |
probably damaging |
Het |
| Tmem114 |
T |
A |
16: 8,229,983 (GRCm39) |
I140F |
|
Het |
| Tmem40 |
T |
C |
6: 115,710,980 (GRCm39) |
R167G |
possibly damaging |
Het |
| Top3a |
C |
A |
11: 60,641,401 (GRCm39) |
|
probably null |
Het |
| Trafd1 |
A |
G |
5: 121,516,573 (GRCm39) |
V210A |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,076,896 (GRCm39) |
I348V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,679,172 (GRCm39) |
A10850V |
unknown |
Het |
| Unc80 |
G |
A |
1: 66,677,244 (GRCm39) |
A2058T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,668,020 (GRCm39) |
Y238H |
probably damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,242 (GRCm39) |
I273N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,836,805 (GRCm39) |
S1768P |
probably damaging |
Het |
| Zfp26 |
G |
A |
9: 20,348,723 (GRCm39) |
H614Y |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,567,701 (GRCm39) |
T672I |
probably benign |
Het |
| Zfp641 |
T |
A |
15: 98,186,732 (GRCm39) |
Q297L |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,560,031 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,418,981 (GRCm39) |
E656G |
unknown |
Het |
| Zfyve19 |
A |
G |
2: 119,045,330 (GRCm39) |
D206G |
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 |
|
|
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 |
|
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'- CACCCGCCTTTAATGGGAGATAG -3'
(R):5'- ATCAAGGCTCTATAAAGTCTAACCC -3'
Sequencing Primer
(F):5'- GTCATTTTCCTTCCCAAAGG -3'
(R):5'- GGCTCTATAAAGTCTAACCCTAGAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation