Incidental Mutation 'R9293:Cep85l'
| ID |
704403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85l
|
| Ensembl Gene |
ENSMUSG00000038594 |
| Gene Name |
centrosomal protein 85-like |
| Synonyms |
Gm9766 |
| MMRRC Submission |
068991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R9293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53174282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 487
(Y487C)
|
| 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: Y385C
| 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: Y487C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
95% (54/57) |
| 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 |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,839 (GRCm39) |
S343P |
possibly damaging |
Het |
| 4930563M21Rik |
T |
A |
9: 55,916,568 (GRCm39) |
E36D |
unknown |
Het |
| Abcc8 |
T |
G |
7: 45,756,092 (GRCm39) |
K1450T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,361,953 (GRCm39) |
N720Y |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,518 (GRCm39) |
T249A |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,021 (GRCm39) |
S388R |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,944,461 (GRCm39) |
Q1437L |
probably damaging |
Het |
| Cdc42ep1 |
A |
C |
15: 78,734,025 (GRCm39) |
D375A |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,646,162 (GRCm39) |
A86V |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,244,027 (GRCm39) |
R1346H |
possibly damaging |
Het |
| Cltc |
T |
A |
11: 86,603,446 (GRCm39) |
R793S |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,214 (GRCm39) |
F162L |
probably benign |
Het |
| Cyp3a44 |
C |
A |
5: 145,711,187 (GRCm39) |
V495L |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,189,361 (GRCm39) |
T1575I |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,462,994 (GRCm39) |
T1292A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,495,016 (GRCm39) |
A109V |
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,419,297 (GRCm39) |
S546P |
|
Het |
| Hfe |
T |
C |
13: 23,890,792 (GRCm39) |
K204E |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,952,986 (GRCm39) |
Y329N |
probably damaging |
Het |
| Irf9 |
T |
G |
14: 55,846,247 (GRCm39) |
I426S |
probably damaging |
Het |
| Kif26a |
C |
A |
12: 112,112,835 (GRCm39) |
P13T |
probably damaging |
Het |
| Lhx5 |
A |
C |
5: 120,570,451 (GRCm39) |
K36Q |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,707,579 (GRCm39) |
S1623P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Mybl2 |
G |
A |
2: 162,910,135 (GRCm39) |
G187E |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,099,929 (GRCm39) |
Q613L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,087,312 (GRCm39) |
M1056K |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,285,955 (GRCm39) |
K298E |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,799 (GRCm39) |
T48I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,414 (GRCm39) |
I109V |
probably damaging |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,940 (GRCm39) |
V591M |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,116 (GRCm39) |
S161P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,205 (GRCm39) |
T775A |
probably benign |
Het |
| Pou3f3 |
T |
C |
1: 42,736,682 (GRCm39) |
V126A |
unknown |
Het |
| Reg4 |
A |
C |
3: 98,143,631 (GRCm39) |
K142Q |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,336 (GRCm39) |
D73G |
probably damaging |
Het |
| Sec22c |
G |
T |
9: 121,517,314 (GRCm39) |
A199E |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,603,181 (GRCm39) |
P395S |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,260,893 (GRCm39) |
E108K |
possibly damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,616 (GRCm39) |
K538E |
possibly damaging |
Het |
| Spatc1l |
A |
T |
10: 76,405,200 (GRCm39) |
D194V |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,408,185 (GRCm39) |
V77A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,930 (GRCm39) |
I230V |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,411,934 (GRCm39) |
T346A |
probably benign |
Het |
| Tmem8b |
C |
T |
4: 43,686,188 (GRCm39) |
T273M |
probably damaging |
Het |
| Trav6-1 |
A |
G |
14: 52,876,299 (GRCm39) |
N73S |
probably benign |
Het |
| Trav6d-5 |
A |
G |
14: 53,033,060 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,806 (GRCm39) |
L379Q |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,803,846 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,727,769 (GRCm39) |
D44A |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,457,443 (GRCm39) |
R5L |
unknown |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,712 (GRCm39) |
T670I |
probably damaging |
Het |
| Zfp433 |
A |
T |
10: 81,556,122 (GRCm39) |
H208L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly 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 |
|
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 |
|
|
R9478:Cep85l
|
UTSW |
10 |
53,224,875 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGGACAGTTTGCAATTTCTAAG -3'
(R):5'- AGAATCTTAGACTGGATTAAGGCAG -3'
Sequencing Primer
(F):5'- CAGTTTGCAATTTCTAAGTAACCCC -3'
(R):5'- GACTGGATTAAGGCAGATCTTAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation