Incidental Mutation 'R0103:Cep85l'
ID |
17458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep85l
|
Ensembl Gene |
ENSMUSG00000038594 |
Gene Name |
centrosomal protein 85-like |
Synonyms |
Gm9766 |
MMRRC Submission |
038389-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R0103 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53154270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 776
(D776E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095691]
[ENSMUST00000220376]
[ENSMUST00000220443]
|
AlphaFold |
A0A1W2P884 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095691
AA Change: D674E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000093356 Gene: ENSMUSG00000038594 AA Change: D674E
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
578 |
N/A |
INTRINSIC |
coiled coil region
|
600 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219618
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219673
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220376
AA Change: D674E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220443
AA Change: D776E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.0735 |
Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 77.8%
- 20x: 63.0%
|
Validation Efficiency |
91% (89/98) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,223,951 (GRCm39) |
R443S |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,940,194 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,522,372 (GRCm39) |
|
probably benign |
Het |
Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,206,922 (GRCm39) |
|
probably benign |
Het |
Asah2 |
G |
T |
19: 31,996,377 (GRCm39) |
H374N |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,943,771 (GRCm39) |
N703D |
unknown |
Het |
Ccdc106 |
C |
A |
7: 5,060,544 (GRCm39) |
Q35K |
probably benign |
Het |
Ccm2l |
G |
T |
2: 152,909,839 (GRCm39) |
E64* |
probably null |
Het |
Cfap52 |
T |
A |
11: 67,815,951 (GRCm39) |
I611F |
possibly damaging |
Het |
Cldn22 |
C |
T |
8: 48,277,589 (GRCm39) |
T9M |
probably benign |
Het |
Coa7 |
T |
C |
4: 108,195,338 (GRCm39) |
L89P |
possibly damaging |
Het |
Cox7a2l |
A |
T |
17: 83,821,701 (GRCm39) |
Y2N |
probably damaging |
Het |
Cyp27a1 |
A |
C |
1: 74,775,074 (GRCm39) |
E301A |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,730,683 (GRCm39) |
Y860C |
probably benign |
Het |
Dhx58 |
T |
C |
11: 100,586,096 (GRCm39) |
T642A |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,922,019 (GRCm39) |
Y87C |
probably damaging |
Het |
Dnah6 |
C |
T |
6: 73,069,155 (GRCm39) |
E2511K |
probably damaging |
Het |
Entpd5 |
C |
A |
12: 84,443,717 (GRCm39) |
E9* |
probably null |
Het |
Fbln2 |
A |
C |
6: 91,248,532 (GRCm39) |
I1066L |
probably benign |
Het |
Fhl2 |
C |
T |
1: 43,192,381 (GRCm39) |
R4H |
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,229,884 (GRCm39) |
I17K |
probably damaging |
Het |
Gbp7 |
T |
A |
3: 142,252,299 (GRCm39) |
N627K |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,265,381 (GRCm39) |
Y331C |
probably damaging |
Het |
Hibadh |
T |
A |
6: 52,534,862 (GRCm39) |
M173L |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,152,790 (GRCm39) |
I211V |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,696,280 (GRCm39) |
I155F |
possibly damaging |
Het |
Ltb |
A |
G |
17: 35,414,016 (GRCm39) |
|
probably benign |
Het |
Manea |
A |
T |
4: 26,329,080 (GRCm39) |
|
probably null |
Het |
Ms4a4a |
T |
A |
19: 11,370,048 (GRCm39) |
M202K |
possibly damaging |
Het |
Myo3a |
T |
G |
2: 22,436,360 (GRCm39) |
|
probably benign |
Het |
Myo9b |
C |
T |
8: 71,776,493 (GRCm39) |
|
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Ncor1 |
G |
T |
11: 62,233,871 (GRCm39) |
Q444K |
possibly damaging |
Het |
Nek7 |
A |
T |
1: 138,471,980 (GRCm39) |
C53* |
probably null |
Het |
Obscn |
G |
T |
11: 58,953,522 (GRCm39) |
Y4044* |
probably null |
Het |
Pcsk6 |
T |
C |
7: 65,578,845 (GRCm39) |
|
probably benign |
Het |
Phax |
T |
A |
18: 56,695,785 (GRCm39) |
V7D |
probably benign |
Het |
Phxr4 |
T |
C |
9: 13,343,087 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,583 (GRCm39) |
D1510V |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,460,537 (GRCm39) |
C4249R |
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,102,057 (GRCm39) |
V378A |
possibly damaging |
Het |
Psd2 |
A |
G |
18: 36,137,770 (GRCm39) |
N455S |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rab4b |
A |
G |
7: 26,873,927 (GRCm39) |
I117T |
probably benign |
Het |
Rad9b |
A |
T |
5: 122,469,590 (GRCm39) |
V348E |
probably damaging |
Het |
Rcor1 |
T |
C |
12: 111,076,212 (GRCm39) |
|
probably benign |
Het |
Rhoc |
A |
T |
3: 104,699,307 (GRCm39) |
E32V |
possibly damaging |
Het |
Rnf40 |
T |
G |
7: 127,199,743 (GRCm39) |
V925G |
probably damaging |
Het |
Slc25a32 |
A |
T |
15: 38,963,292 (GRCm39) |
Y176* |
probably null |
Het |
Slc7a1 |
T |
A |
5: 148,289,236 (GRCm39) |
K4* |
probably null |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Taar4 |
A |
T |
10: 23,837,304 (GRCm39) |
N305Y |
probably damaging |
Het |
Tcaf1 |
G |
T |
6: 42,663,324 (GRCm39) |
D185E |
probably benign |
Het |
Tmem138 |
T |
C |
19: 10,552,316 (GRCm39) |
N62S |
possibly damaging |
Het |
Tnfrsf25 |
C |
T |
4: 152,201,405 (GRCm39) |
P65S |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,067,240 (GRCm39) |
S495R |
possibly damaging |
Het |
Trpv3 |
T |
C |
11: 73,184,805 (GRCm39) |
F597S |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,484,577 (GRCm39) |
V149A |
possibly damaging |
Het |
Ush2a |
T |
G |
1: 188,051,267 (GRCm39) |
I251R |
possibly damaging |
Het |
Vamp4 |
T |
C |
1: 162,417,108 (GRCm39) |
C114R |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,908 (GRCm39) |
V1067E |
probably damaging |
Het |
Zcwpw1 |
G |
A |
5: 137,808,375 (GRCm39) |
W274* |
probably null |
Het |
|
Other mutations in Cep85l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
debauchery
|
UTSW |
10 |
53,224,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
saturnalia
|
UTSW |
10 |
53,195,690 (GRCm39) |
splice site |
probably null |
|
R0103:Cep85l
|
UTSW |
10 |
53,154,270 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0559:Cep85l
|
UTSW |
10 |
53,224,597 (GRCm39) |
missense |
probably benign |
0.00 |
R0689:Cep85l
|
UTSW |
10 |
53,224,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R0750:Cep85l
|
UTSW |
10 |
53,157,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R0969:Cep85l
|
UTSW |
10 |
53,157,592 (GRCm39) |
missense |
probably benign |
0.00 |
R1375:Cep85l
|
UTSW |
10 |
53,225,354 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Cep85l
|
UTSW |
10 |
53,177,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Cep85l
|
UTSW |
10 |
53,224,777 (GRCm39) |
missense |
probably benign |
|
R1749:Cep85l
|
UTSW |
10 |
53,154,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Cep85l
|
UTSW |
10 |
53,224,908 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2007:Cep85l
|
UTSW |
10 |
53,154,171 (GRCm39) |
utr 3 prime |
probably benign |
|
R2043:Cep85l
|
UTSW |
10 |
53,234,224 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2144:Cep85l
|
UTSW |
10 |
53,234,222 (GRCm39) |
missense |
probably benign |
0.04 |
R2186:Cep85l
|
UTSW |
10 |
53,224,714 (GRCm39) |
missense |
probably damaging |
0.97 |
R2201:Cep85l
|
UTSW |
10 |
53,224,827 (GRCm39) |
missense |
probably benign |
0.01 |
R3767:Cep85l
|
UTSW |
10 |
53,167,906 (GRCm39) |
missense |
probably benign |
0.09 |
R5249:Cep85l
|
UTSW |
10 |
53,195,690 (GRCm39) |
splice site |
probably null |
|
R5764:Cep85l
|
UTSW |
10 |
53,225,090 (GRCm39) |
missense |
probably benign |
0.00 |
R6207:Cep85l
|
UTSW |
10 |
53,157,651 (GRCm39) |
missense |
probably benign |
|
R6333:Cep85l
|
UTSW |
10 |
53,225,197 (GRCm39) |
nonsense |
probably null |
|
R6422:Cep85l
|
UTSW |
10 |
53,167,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6511:Cep85l
|
UTSW |
10 |
53,154,188 (GRCm39) |
missense |
probably benign |
0.00 |
R6645:Cep85l
|
UTSW |
10 |
53,177,768 (GRCm39) |
missense |
probably benign |
0.26 |
R6863:Cep85l
|
UTSW |
10 |
53,225,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R6904:Cep85l
|
UTSW |
10 |
53,225,194 (GRCm39) |
missense |
probably benign |
0.00 |
R7000:Cep85l
|
UTSW |
10 |
53,174,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7015:Cep85l
|
UTSW |
10 |
53,225,151 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7256:Cep85l
|
UTSW |
10 |
53,172,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R7425:Cep85l
|
UTSW |
10 |
53,177,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Cep85l
|
UTSW |
10 |
53,157,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7796:Cep85l
|
UTSW |
10 |
53,157,497 (GRCm39) |
missense |
probably damaging |
0.96 |
R7960:Cep85l
|
UTSW |
10 |
53,172,403 (GRCm39) |
missense |
probably benign |
|
R7969:Cep85l
|
UTSW |
10 |
53,174,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R8042:Cep85l
|
UTSW |
10 |
53,224,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Cep85l
|
UTSW |
10 |
53,175,420 (GRCm39) |
splice site |
probably null |
|
R8251:Cep85l
|
UTSW |
10 |
53,157,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8460:Cep85l
|
UTSW |
10 |
53,225,313 (GRCm39) |
missense |
probably benign |
0.18 |
R8698:Cep85l
|
UTSW |
10 |
53,234,201 (GRCm39) |
missense |
probably damaging |
0.98 |
R8814:Cep85l
|
UTSW |
10 |
53,225,065 (GRCm39) |
missense |
probably benign |
0.00 |
R8888:Cep85l
|
UTSW |
10 |
53,224,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8895:Cep85l
|
UTSW |
10 |
53,224,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9090:Cep85l
|
UTSW |
10 |
53,157,670 (GRCm39) |
nonsense |
probably null |
|
R9271:Cep85l
|
UTSW |
10 |
53,157,670 (GRCm39) |
nonsense |
probably null |
|
R9293:Cep85l
|
UTSW |
10 |
53,174,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9478:Cep85l
|
UTSW |
10 |
53,224,875 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2013-01-31 |