Incidental Mutation 'R0512:Rb1cc1'
| ID |
47863 |
| 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 |
038706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0512 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6318767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 729
(S729P)
|
| 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: S729P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: S729P
| 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: S608P
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: S608P
| 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 |
possibly damaging
Transcript: ENSMUST00000162795
AA Change: S712P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: S712P
| 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 |
0.1615 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (92/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
G |
5: 115,001,569 (GRCm39) |
M22R |
probably benign |
Het |
| Abca8b |
C |
A |
11: 109,841,476 (GRCm39) |
M1039I |
probably benign |
Het |
| Actn2 |
A |
T |
13: 12,292,301 (GRCm39) |
I653N |
probably damaging |
Het |
| Actr8 |
G |
T |
14: 29,700,513 (GRCm39) |
V31L |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,069,441 (GRCm39) |
C425R |
probably damaging |
Het |
| Armc1 |
A |
G |
3: 19,203,659 (GRCm39) |
V89A |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,817,579 (GRCm39) |
M2090T |
probably damaging |
Het |
| Braf |
T |
A |
6: 39,641,923 (GRCm39) |
|
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,302,091 (GRCm39) |
N75K |
probably benign |
Het |
| Chd7 |
C |
T |
4: 8,805,139 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,432,444 (GRCm39) |
Y488C |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,749,520 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
A |
4: 120,911,504 (GRCm39) |
M615K |
probably benign |
Het |
| Dedd |
G |
A |
1: 171,168,498 (GRCm39) |
R228H |
probably damaging |
Het |
| Dhtkd1 |
C |
T |
2: 5,908,902 (GRCm39) |
D731N |
probably damaging |
Het |
| Ercc2 |
A |
G |
7: 19,127,812 (GRCm39) |
T651A |
probably damaging |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fam193a |
T |
C |
5: 34,583,735 (GRCm39) |
S19P |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,553 (GRCm39) |
V379A |
possibly damaging |
Het |
| Fat1 |
C |
A |
8: 45,404,369 (GRCm39) |
Y373* |
probably null |
Het |
| Fbxl15 |
A |
C |
19: 46,317,861 (GRCm39) |
D181A |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,278,080 (GRCm39) |
C831* |
probably null |
Het |
| Foxj3 |
T |
A |
4: 119,443,033 (GRCm39) |
|
probably benign |
Het |
| Glul |
T |
C |
1: 153,781,132 (GRCm39) |
|
probably benign |
Het |
| Gm16380 |
A |
T |
9: 53,791,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
T |
7: 83,405,158 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk1 |
A |
G |
3: 103,667,890 (GRCm39) |
F559S |
possibly damaging |
Het |
| Hnf4g |
A |
T |
3: 3,716,682 (GRCm39) |
I284F |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Icosl |
A |
G |
10: 77,907,800 (GRCm39) |
N120S |
possibly damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,821 (GRCm39) |
V155A |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,252,031 (GRCm39) |
E426G |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,826,257 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,086,129 (GRCm39) |
C1456Y |
possibly damaging |
Het |
| Lamc3 |
T |
A |
2: 31,827,980 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Larp1b |
T |
A |
3: 40,924,469 (GRCm39) |
L121M |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lepr |
A |
C |
4: 101,671,901 (GRCm39) |
D975A |
possibly damaging |
Het |
| Magi1 |
A |
G |
6: 93,671,045 (GRCm39) |
V1068A |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,591,271 (GRCm39) |
N358K |
probably damaging |
Het |
| Mfap4 |
T |
A |
11: 61,378,771 (GRCm39) |
W240R |
probably damaging |
Het |
| Mis18a |
A |
G |
16: 90,523,244 (GRCm39) |
V84A |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,356,753 (GRCm39) |
E308G |
possibly damaging |
Het |
| Mpp2 |
C |
A |
11: 101,953,116 (GRCm39) |
L258F |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,079,504 (GRCm39) |
E987G |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,942,972 (GRCm39) |
V702A |
possibly damaging |
Het |
| Nhs |
C |
A |
X: 160,620,355 (GRCm39) |
R1467I |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,567,228 (GRCm39) |
T1360A |
probably damaging |
Het |
| Obox6 |
A |
G |
7: 15,567,874 (GRCm39) |
I191T |
probably benign |
Het |
| Pacs2 |
G |
T |
12: 113,014,547 (GRCm39) |
R236L |
probably damaging |
Het |
| Pcdhb2 |
T |
G |
18: 37,429,032 (GRCm39) |
V335G |
probably damaging |
Het |
| Phyhipl |
T |
C |
10: 70,404,748 (GRCm39) |
I140M |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,380,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
T |
G |
8: 35,851,571 (GRCm39) |
C137G |
probably damaging |
Het |
| Prdm13 |
T |
A |
4: 21,678,490 (GRCm39) |
I667F |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,270,157 (GRCm39) |
M1281V |
probably benign |
Het |
| Rab40b |
A |
G |
11: 121,250,412 (GRCm39) |
F81L |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,497 (GRCm39) |
D228G |
probably damaging |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,875 (GRCm39) |
C19* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf150 |
G |
A |
8: 83,590,807 (GRCm39) |
V57M |
probably benign |
Het |
| Rp9 |
A |
G |
9: 22,370,015 (GRCm39) |
F51L |
probably benign |
Het |
| Sav1 |
A |
T |
12: 70,015,975 (GRCm39) |
Y274* |
probably null |
Het |
| Scn4a |
A |
T |
11: 106,236,503 (GRCm39) |
D252E |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,379,724 (GRCm39) |
T187A |
probably damaging |
Het |
| Sigirr |
T |
A |
7: 140,672,333 (GRCm39) |
D229V |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,896,031 (GRCm39) |
S157G |
possibly damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,489,471 (GRCm39) |
S191P |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,979,128 (GRCm39) |
A457S |
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,210,412 (GRCm39) |
|
probably benign |
Het |
| Spon1 |
A |
G |
7: 113,436,066 (GRCm39) |
E119G |
possibly damaging |
Het |
| Spred2 |
T |
A |
11: 19,958,485 (GRCm39) |
|
probably benign |
Het |
| Sprr3 |
T |
G |
3: 92,364,784 (GRCm39) |
Q20P |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,673,966 (GRCm39) |
F464L |
possibly damaging |
Het |
| Sun1 |
A |
G |
5: 139,220,602 (GRCm39) |
|
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,133,486 (GRCm39) |
W28R |
possibly damaging |
Het |
| Syt5 |
A |
T |
7: 4,545,813 (GRCm39) |
V150D |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,168,363 (GRCm39) |
F302L |
probably damaging |
Het |
| Thsd7a |
A |
G |
6: 12,379,604 (GRCm39) |
I940T |
possibly damaging |
Het |
| Tlcd3b |
C |
T |
7: 126,426,795 (GRCm39) |
R73C |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,785,951 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
T |
A |
11: 69,479,509 (GRCm39) |
L203Q |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,005,900 (GRCm39) |
V96A |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,510,246 (GRCm39) |
T284A |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,401,997 (GRCm39) |
M2409T |
probably benign |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,350 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,799,900 (GRCm39) |
V446A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,220,262 (GRCm39) |
C762R |
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 |
|
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'- TCAGGTATCCACAAGTCAGGCATCC -3'
(R):5'- TGCAGCAGCTCTGCATTTCTCCAG -3'
Sequencing Primer
(F):5'- GCTGCTTCTCCAAGAATAGAAAG -3'
(R):5'- ATGTAGAGCAGCCCGATCC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation