Incidental Mutation 'R7796:Cep85l'
ID |
600236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep85l
|
Ensembl Gene |
ENSMUSG00000038594 |
Gene Name |
centrosomal protein 85-like |
Synonyms |
Gm9766 |
MMRRC Submission |
045852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R7796 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 53157497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 735
(N735K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095691]
[ENSMUST00000220376]
[ENSMUST00000220443]
|
AlphaFold |
A0A1W2P884 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000093356 Gene: ENSMUSG00000038594 AA Change: N633K
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
578 |
N/A |
INTRINSIC |
coiled coil region
|
600 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220443
AA Change: N735K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.0937 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (54/54) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630089N07Rik |
T |
A |
16: 97,867,024 (GRCm39) |
I313F |
probably benign |
Het |
Acot2 |
T |
A |
12: 84,035,257 (GRCm39) |
|
probably null |
Het |
Agbl4 |
G |
T |
4: 110,518,165 (GRCm39) |
G152V |
unknown |
Het |
Arap2 |
A |
G |
5: 62,888,105 (GRCm39) |
S414P |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,585,833 (GRCm39) |
S1209G |
possibly damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
Dpf1 |
C |
G |
7: 29,011,106 (GRCm39) |
N168K |
possibly damaging |
Het |
Dync1li2 |
T |
A |
8: 105,157,181 (GRCm39) |
Y184F |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,319,727 (GRCm39) |
T187A |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fndc3b |
G |
A |
3: 27,515,892 (GRCm39) |
T638I |
probably benign |
Het |
Gm11564 |
A |
G |
11: 99,706,424 (GRCm39) |
V2A |
unknown |
Het |
Gm3159 |
A |
G |
14: 4,400,560 (GRCm38) |
*206W |
probably null |
Het |
Gm32742 |
A |
G |
9: 51,071,123 (GRCm39) |
|
probably null |
Het |
Gm4847 |
G |
A |
1: 166,469,819 (GRCm39) |
H85Y |
probably damaging |
Het |
Gprc5c |
A |
T |
11: 114,755,358 (GRCm39) |
D345V |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,007,854 (GRCm39) |
Y1363* |
probably null |
Het |
Kdm5a |
T |
C |
6: 120,367,724 (GRCm39) |
V473A |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,032,350 (GRCm39) |
C28R |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,321,965 (GRCm39) |
Y664H |
probably damaging |
Het |
Krt17 |
A |
G |
11: 100,151,698 (GRCm39) |
S32P |
probably benign |
Het |
Krt87 |
A |
G |
15: 101,383,865 (GRCm39) |
V424A |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,759,634 (GRCm39) |
T201A |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,455,654 (GRCm39) |
|
probably null |
Het |
Megf10 |
C |
A |
18: 57,410,731 (GRCm39) |
T680N |
possibly damaging |
Het |
Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,299,923 (GRCm39) |
S1704P |
probably damaging |
Het |
Nr2f2 |
A |
G |
7: 70,007,901 (GRCm39) |
S194P |
probably benign |
Het |
Nrsn2 |
T |
A |
2: 152,218,471 (GRCm39) |
|
probably benign |
Het |
Ociad1 |
C |
T |
5: 73,452,290 (GRCm39) |
P27L |
probably damaging |
Het |
Or13p5 |
T |
A |
4: 118,591,882 (GRCm39) |
I52N |
probably damaging |
Het |
Or4a39 |
T |
A |
2: 89,237,157 (GRCm39) |
T89S |
possibly damaging |
Het |
Patj |
A |
T |
4: 98,435,220 (GRCm39) |
M1L |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,428,446 (GRCm39) |
I140V |
possibly damaging |
Het |
Pla2g6 |
T |
C |
15: 79,202,025 (GRCm39) |
N49D |
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,380,727 (GRCm39) |
D432V |
possibly damaging |
Het |
Pxdc1 |
T |
A |
13: 34,836,354 (GRCm39) |
N22I |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 91,996,865 (GRCm39) |
Y672H |
probably damaging |
Het |
Rps23rg1 |
T |
C |
8: 3,634,160 (GRCm39) |
V111A |
probably benign |
Het |
Safb2 |
T |
C |
17: 56,873,327 (GRCm39) |
R779G |
possibly damaging |
Het |
Skic2 |
C |
T |
17: 35,063,394 (GRCm39) |
G628S |
probably damaging |
Het |
Smg5 |
A |
T |
3: 88,256,739 (GRCm39) |
Q299L |
probably damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Sulf1 |
T |
C |
1: 12,929,044 (GRCm39) |
L864S |
probably benign |
Het |
Tas1r1 |
A |
G |
4: 152,119,212 (GRCm39) |
V119A |
probably benign |
Het |
Tasp1 |
T |
C |
2: 139,850,705 (GRCm39) |
N106S |
probably damaging |
Het |
Tcf4 |
T |
A |
18: 69,697,140 (GRCm39) |
N156K |
probably benign |
Het |
Trav14n-3 |
T |
A |
14: 53,607,827 (GRCm39) |
Y52* |
probably null |
Het |
Ttn |
T |
C |
2: 76,665,222 (GRCm39) |
E11598G |
unknown |
Het |
Unc80 |
A |
G |
1: 66,542,873 (GRCm39) |
I376V |
probably benign |
Het |
Ybx3 |
T |
C |
6: 131,345,479 (GRCm39) |
E298G |
probably damaging |
Het |
Yipf7 |
T |
C |
5: 69,684,596 (GRCm39) |
Y73C |
possibly damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,583 (GRCm39) |
A321T |
possibly damaging |
Het |
Zfp369 |
A |
G |
13: 65,444,029 (GRCm39) |
R391G |
probably benign |
Het |
Zfp54 |
A |
G |
17: 21,654,982 (GRCm39) |
E492G |
probably damaging |
Het |
Zfp971 |
A |
G |
2: 177,673,403 (GRCm39) |
T51A |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAAATCACTGCTAACTTGTG -3'
(R):5'- TCCACTGTAGAACCAAAGACAGATG -3'
Sequencing Primer
(F):5'- GGTTTTGGAAACATGTCTATGCATTC -3'
(R):5'- ACAGATGGGAGAGACGTACTC -3'
|
Posted On |
2019-11-26 |