Incidental Mutation 'R1611:Cep85l'
| ID |
176805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85l
|
| Ensembl Gene |
ENSMUSG00000038594 |
| Gene Name |
centrosomal protein 85-like |
| Synonyms |
Gm9766 |
| MMRRC Submission |
039648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R1611 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53224777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 271
(T271A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046221]
[ENSMUST00000095691]
[ENSMUST00000163319]
[ENSMUST00000218468]
[ENSMUST00000219491]
[ENSMUST00000220443]
[ENSMUST00000220376]
[ENSMUST00000220197]
[ENSMUST00000219921]
|
| 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 benign
Transcript: ENSMUST00000095691
AA Change: T169A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: T169A
| 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 |
noncoding transcript
Transcript: ENSMUST00000218351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220443
AA Change: T271A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220376
AA Change: T169A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220401
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
97% (75/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,216,390 (GRCm39) |
I186F |
possibly damaging |
Het |
| Actr6 |
T |
A |
10: 89,568,064 (GRCm39) |
K14* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,707,236 (GRCm39) |
V1390E |
probably damaging |
Het |
| Akap1 |
C |
T |
11: 88,736,104 (GRCm39) |
R186K |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,109,984 (GRCm39) |
V99D |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,051 (GRCm39) |
G407S |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,515,489 (GRCm39) |
M401V |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,198,998 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
A |
10: 74,961,034 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
C |
1: 44,165,907 (GRCm39) |
I119T |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,600,445 (GRCm39) |
I1632T |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,338,251 (GRCm39) |
V537M |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,726,032 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
A |
1: 132,050,113 (GRCm39) |
I21F |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,309,532 (GRCm39) |
N528S |
possibly damaging |
Het |
| Cpsf6 |
T |
A |
10: 117,197,733 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
T |
C |
7: 44,609,536 (GRCm39) |
T689A |
probably benign |
Het |
| D030068K23Rik |
T |
C |
8: 109,975,935 (GRCm39) |
Y64C |
unknown |
Het |
| Ddb1 |
T |
A |
19: 10,604,128 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
A |
19: 10,590,252 (GRCm39) |
C260S |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,148,297 (GRCm39) |
Q1478K |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,033,755 (GRCm39) |
M247R |
unknown |
Het |
| Dnai3 |
T |
C |
3: 145,801,113 (GRCm39) |
Y115C |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,694 (GRCm39) |
S299G |
probably benign |
Het |
| Erbb4 |
C |
A |
1: 68,079,547 (GRCm39) |
G1178C |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,186,091 (GRCm39) |
I370N |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gm12353 |
T |
A |
4: 19,631,843 (GRCm39) |
Y27* |
probably null |
Het |
| Gnl1 |
C |
T |
17: 36,298,441 (GRCm39) |
T395I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,504 (GRCm39) |
T554I |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,157,765 (GRCm39) |
I116V |
probably benign |
Het |
| Inava |
G |
A |
1: 136,143,855 (GRCm39) |
P527L |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,423,552 (GRCm39) |
V233E |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,321,992 (GRCm39) |
T673A |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,564,309 (GRCm39) |
|
probably null |
Het |
| Lipg |
T |
C |
18: 75,081,130 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,627,219 (GRCm39) |
L109Q |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,671 (GRCm39) |
I105N |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Naa35 |
G |
T |
13: 59,776,747 (GRCm39) |
R574L |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,084 (GRCm39) |
|
probably benign |
Het |
| Nedd9 |
T |
A |
13: 41,470,406 (GRCm39) |
D249V |
probably benign |
Het |
| Nsg1 |
T |
A |
5: 38,296,060 (GRCm39) |
K38* |
probably null |
Het |
| Nup155 |
T |
A |
15: 8,159,644 (GRCm39) |
D518E |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,968 (GRCm39) |
I28N |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,601,098 (GRCm39) |
H231L |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,960,527 (GRCm39) |
I586V |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,310,236 (GRCm39) |
N242S |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,607,013 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
A |
T |
4: 144,119,382 (GRCm39) |
V395E |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,430 (GRCm39) |
V404A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,223,862 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,442,625 (GRCm39) |
L259P |
probably damaging |
Het |
| Rps6ka5 |
C |
G |
12: 100,537,111 (GRCm39) |
V540L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,850 (GRCm39) |
D3966N |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,771 (GRCm39) |
S1163R |
probably benign |
Het |
| Serpinb9g |
T |
C |
13: 33,676,857 (GRCm39) |
I213T |
possibly damaging |
Het |
| Sil1 |
A |
T |
18: 35,402,141 (GRCm39) |
V331E |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,244,395 (GRCm39) |
F410S |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Slfnl1 |
A |
G |
4: 120,390,574 (GRCm39) |
E75G |
probably benign |
Het |
| Sp1 |
T |
A |
15: 102,339,370 (GRCm39) |
I436N |
probably damaging |
Het |
| Taf4b |
A |
T |
18: 14,977,526 (GRCm39) |
E766V |
probably null |
Het |
| Tgfbr1 |
A |
G |
4: 47,396,526 (GRCm39) |
Y180C |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,868,035 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,011,958 (GRCm39) |
C606* |
probably null |
Het |
| Zfp341 |
C |
A |
2: 154,487,623 (GRCm39) |
H702Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTTGCCAAGGAGCTAAACTG -3'
(R):5'- AGGGCAAGCCTTTTATGTCCCAC -3'
Sequencing Primer
(F):5'- GAGCTAAACTGTAAGAATCGTCTGTG -3'
(R):5'- GGCCAAGTTGCTTACATGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation