Incidental Mutation 'R1749:Cep85l'
| ID |
194204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85l
|
| Ensembl Gene |
ENSMUSG00000038594 |
| Gene Name |
centrosomal protein 85-like |
| Synonyms |
Gm9766 |
| MMRRC Submission |
039781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R1749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53154250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 681
(D681G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095691]
[ENSMUST00000220376]
[ENSMUST00000220443]
|
| AlphaFold |
A0A1W2P884 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095691
AA Change: D681G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: D681G
| 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 damaging
Transcript: ENSMUST00000220376
AA Change: D681G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220443
AA Change: D783G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
T |
3: 152,178,557 (GRCm39) |
M486K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,705,261 (GRCm39) |
D41V |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,097,623 (GRCm39) |
E802* |
probably null |
Het |
| Barhl2 |
T |
C |
5: 106,605,572 (GRCm39) |
S46G |
unknown |
Het |
| Cacna1e |
A |
G |
1: 154,319,746 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ccdc69 |
T |
C |
11: 54,941,979 (GRCm39) |
R176G |
probably null |
Het |
| Cdan1 |
T |
C |
2: 120,560,280 (GRCm39) |
N321S |
probably damaging |
Het |
| Cntrob |
A |
T |
11: 69,213,700 (GRCm39) |
V30E |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,056 (GRCm39) |
G3646E |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,789 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
T |
4: 104,185,495 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,352 (GRCm39) |
S167P |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,182,767 (GRCm39) |
|
probably null |
Het |
| Dok3 |
GCC |
GC |
13: 55,672,168 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,798,835 (GRCm39) |
I287L |
possibly damaging |
Het |
| Eci1 |
G |
A |
17: 24,645,721 (GRCm39) |
|
probably null |
Het |
| Emb |
T |
A |
13: 117,386,242 (GRCm39) |
I133N |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,183,348 (GRCm39) |
D1779G |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,605 (GRCm39) |
|
probably null |
Het |
| Flt1 |
G |
A |
5: 147,591,929 (GRCm39) |
T511M |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,089,456 (GRCm39) |
L205P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,483,379 (GRCm39) |
V134A |
probably damaging |
Het |
| Htr3a |
A |
G |
9: 48,812,233 (GRCm39) |
V291A |
probably damaging |
Het |
| Ip6k3 |
T |
A |
17: 27,364,053 (GRCm39) |
T332S |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,915 (GRCm39) |
F148I |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,927,162 (GRCm39) |
S1206P |
probably benign |
Het |
| Mbnl2 |
T |
A |
14: 120,626,462 (GRCm39) |
C231S |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,773,952 (GRCm39) |
D5521V |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,557,946 (GRCm39) |
V52M |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,444,763 (GRCm39) |
S232P |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,808,550 (GRCm39) |
K504R |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,753,694 (GRCm39) |
N220S |
possibly damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,370 (GRCm39) |
I393F |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,952 (GRCm39) |
T108A |
probably benign |
Het |
| Pabpc1 |
T |
C |
15: 36,608,584 (GRCm39) |
Y56C |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,938,542 (GRCm39) |
K498R |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,627,045 (GRCm39) |
S467P |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,544,048 (GRCm39) |
S47P |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,293 (GRCm39) |
I229N |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,359 (GRCm39) |
S617R |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,295 (GRCm39) |
T885P |
possibly damaging |
Het |
| Sp100 |
A |
C |
1: 85,627,357 (GRCm39) |
T417P |
possibly damaging |
Het |
| Tat |
A |
T |
8: 110,722,846 (GRCm39) |
N303Y |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,892 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,411 (GRCm39) |
S1113G |
probably benign |
Het |
| Tspear |
G |
A |
10: 77,705,507 (GRCm39) |
E302K |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,314,722 (GRCm39) |
L23P |
probably damaging |
Het |
| Vti1b |
T |
C |
12: 79,211,807 (GRCm39) |
E42G |
probably damaging |
Het |
| Yeats2 |
G |
T |
16: 20,005,018 (GRCm39) |
E333* |
probably null |
Het |
| Zfp455 |
T |
G |
13: 67,355,073 (GRCm39) |
C114G |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,555 (GRCm39) |
V163M |
possibly damaging |
Het |
| Zfp940 |
A |
T |
7: 29,544,952 (GRCm39) |
C318* |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTAGTAACGTGATGTGTTTGCCTG -3'
(R):5'- TGGTAACTTTGCCACGCACCAAG -3'
Sequencing Primer
(F):5'- CTCCTTCAGAAAGCATGTGTAAC -3'
(R):5'- CACCAAGCTTGCCAAATTTGT -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation