Incidental Mutation 'R6863:Cep85l'
ID |
535763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep85l
|
Ensembl Gene |
ENSMUSG00000038594 |
Gene Name |
centrosomal protein 85-like |
Synonyms |
Gm9766 |
MMRRC Submission |
044963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R6863 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 53225214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 125
(W125L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046221]
[ENSMUST00000095691]
[ENSMUST00000163319]
[ENSMUST00000218468]
[ENSMUST00000219491]
[ENSMUST00000219921]
[ENSMUST00000220197]
[ENSMUST00000220443]
[ENSMUST00000220376]
|
AlphaFold |
A0A1W2P884 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046221
|
SMART Domains |
Protein: ENSMUSP00000045709 Gene: ENSMUSG00000038583
Domain | Start | End | E-Value | Type |
Pfam:Phospholamban
|
1 |
52 |
2.7e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095691
AA Change: W23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093356 Gene: ENSMUSG00000038594 AA Change: W23L
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
578 |
N/A |
INTRINSIC |
coiled coil region
|
600 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163319
|
SMART Domains |
Protein: ENSMUSP00000132743 Gene: ENSMUSG00000038583
Domain | Start | End | E-Value | Type |
Pfam:Phospholamban
|
1 |
52 |
2.7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218468
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220197
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220443
AA Change: W125L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220376
AA Change: W23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (56/56) |
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 |
Adamts20 |
A |
T |
15: 94,277,627 (GRCm39) |
Y278* |
probably null |
Het |
Agap3 |
A |
T |
5: 24,657,461 (GRCm39) |
Y86F |
possibly damaging |
Het |
Agap3 |
C |
A |
5: 24,657,462 (GRCm39) |
Y86* |
probably null |
Het |
Ahnak |
T |
C |
19: 8,989,729 (GRCm39) |
|
probably benign |
Het |
Arhgap45 |
G |
T |
10: 79,853,616 (GRCm39) |
E43D |
probably benign |
Het |
Cacna1d |
A |
C |
14: 29,797,809 (GRCm39) |
I1426S |
probably damaging |
Het |
Calhm5 |
C |
A |
10: 33,968,451 (GRCm39) |
A201S |
probably benign |
Het |
Cdkn2a |
T |
C |
4: 89,193,003 (GRCm39) |
E159G |
probably benign |
Het |
Ces1g |
C |
T |
8: 94,043,647 (GRCm39) |
V431M |
possibly damaging |
Het |
Csmd1 |
G |
A |
8: 17,584,929 (GRCm39) |
A21V |
possibly damaging |
Het |
Ctsc |
T |
A |
7: 87,951,486 (GRCm39) |
Y243* |
probably null |
Het |
Ctu1 |
A |
G |
7: 43,326,046 (GRCm39) |
E235G |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,668,457 (GRCm39) |
Y14C |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,137,351 (GRCm39) |
F235L |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,942,290 (GRCm39) |
S5P |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,618,614 (GRCm39) |
I3288T |
probably benign |
Het |
Ebpl |
A |
T |
14: 61,597,751 (GRCm39) |
L30Q |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,968 (GRCm39) |
Y95C |
probably damaging |
Het |
Etaa1 |
T |
A |
11: 17,903,794 (GRCm39) |
M1L |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,120 (GRCm39) |
T1068A |
probably benign |
Het |
Eya1 |
C |
A |
1: 14,341,199 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
T |
8: 45,497,501 (GRCm39) |
V4329L |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,691,165 (GRCm39) |
Q127L |
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,792,360 (GRCm39) |
Y590S |
probably damaging |
Het |
Gm14410 |
G |
A |
2: 176,885,860 (GRCm39) |
Q135* |
probably null |
Het |
Greb1 |
A |
T |
12: 16,734,421 (GRCm39) |
V1523D |
probably damaging |
Het |
Hmg20b |
T |
C |
10: 81,182,854 (GRCm39) |
N210S |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,618,029 (GRCm39) |
K487E |
possibly damaging |
Het |
Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
Kif17 |
T |
A |
4: 137,997,195 (GRCm39) |
Y139* |
probably null |
Het |
Klhl2 |
A |
T |
8: 65,275,743 (GRCm39) |
N53K |
probably benign |
Het |
Lrit2 |
G |
T |
14: 36,793,901 (GRCm39) |
G322C |
probably damaging |
Het |
Macir |
T |
C |
1: 97,574,030 (GRCm39) |
T12A |
probably benign |
Het |
Matcap1 |
T |
C |
8: 106,012,435 (GRCm39) |
D4G |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,705,943 (GRCm39) |
Q4L |
probably benign |
Het |
Mst1r |
A |
G |
9: 107,797,225 (GRCm39) |
T1365A |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mydgf |
C |
A |
17: 56,490,789 (GRCm39) |
V35L |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,306,341 (GRCm39) |
|
probably null |
Het |
Or10s1 |
A |
G |
9: 39,986,110 (GRCm39) |
Y173C |
probably damaging |
Het |
Or52ad1 |
C |
T |
7: 102,996,123 (GRCm39) |
C4Y |
possibly damaging |
Het |
Pik3r2 |
T |
C |
8: 71,223,058 (GRCm39) |
Y454C |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,437,206 (GRCm39) |
S50T |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,317,300 (GRCm39) |
S755G |
probably damaging |
Het |
Shb |
A |
G |
4: 45,458,163 (GRCm39) |
W135R |
probably damaging |
Het |
Slc1a4 |
T |
C |
11: 20,264,001 (GRCm39) |
K239E |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,142,798 (GRCm39) |
V248D |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,684,107 (GRCm39) |
Y288* |
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,096,777 (GRCm39) |
M267V |
possibly damaging |
Het |
Taok2 |
C |
T |
7: 126,471,109 (GRCm39) |
R661Q |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,397,030 (GRCm39) |
I819F |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,516,907 (GRCm39) |
W198R |
probably damaging |
Het |
Timd4 |
C |
G |
11: 46,706,270 (GRCm39) |
S24* |
probably null |
Het |
Tnrc18 |
T |
C |
5: 142,800,952 (GRCm39) |
D2G |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,040,047 (GRCm39) |
D384G |
probably damaging |
Het |
Zfp560 |
C |
A |
9: 20,259,795 (GRCm39) |
V356F |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTCCTCAGCTCTTGCGGG -3'
(R):5'- GAAGCCACACTCGGATGTTTAC -3'
Sequencing Primer
(F):5'- CGGGTATGCAATGCCACTGTG -3'
(R):5'- ACCTGCTGATTGAAACTGACTTGG -3'
|
Posted On |
2018-10-18 |