Incidental Mutation 'R9478:Cep85l'
| ID |
715937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85l
|
| Ensembl Gene |
ENSMUSG00000038594 |
| Gene Name |
centrosomal protein 85-like |
| Synonyms |
Gm9766 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R9478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53149539-53256043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53224875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 238
(E238A)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: E136A
| 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 |
possibly damaging
Transcript: ENSMUST00000220443
AA Change: E238A
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,573 (GRCm39) |
I886F |
possibly damaging |
Het |
| 3100002H09Rik |
A |
G |
4: 124,504,151 (GRCm39) |
S134P |
unknown |
Het |
| Abcf2 |
A |
G |
5: 24,770,940 (GRCm39) |
L604P |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg14 |
G |
T |
14: 47,783,138 (GRCm39) |
H373Q |
probably damaging |
Het |
| Atmin |
C |
T |
8: 117,681,537 (GRCm39) |
H179Y |
probably damaging |
Het |
| Catsperg1 |
G |
T |
7: 28,897,777 (GRCm39) |
P197T |
possibly damaging |
Het |
| Ccdc7b |
C |
T |
8: 129,837,473 (GRCm39) |
Q155* |
probably null |
Het |
| Cfap119 |
T |
C |
7: 127,184,087 (GRCm39) |
|
probably null |
Het |
| Cntln |
G |
A |
4: 84,897,630 (GRCm39) |
V406I |
probably benign |
Het |
| Csf2rb2 |
C |
A |
15: 78,168,965 (GRCm39) |
G730V |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,034,997 (GRCm39) |
L225Q |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,367,962 (GRCm39) |
F511I |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,531,008 (GRCm39) |
Y453F |
|
Het |
| Dync1h1 |
T |
C |
12: 110,625,137 (GRCm39) |
F3829L |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Esco2 |
C |
A |
14: 66,068,657 (GRCm39) |
G218* |
probably null |
Het |
| Gale |
C |
T |
4: 135,692,574 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,766,029 (GRCm39) |
D55G |
possibly damaging |
Het |
| Il17ra |
A |
G |
6: 120,451,336 (GRCm39) |
D170G |
possibly damaging |
Het |
| Inha |
A |
G |
1: 75,486,562 (GRCm39) |
S286G |
probably benign |
Het |
| Kif1b |
C |
T |
4: 149,345,616 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
G |
16: 19,941,763 (GRCm39) |
S570R |
possibly damaging |
Het |
| Krt87 |
G |
A |
15: 101,385,449 (GRCm39) |
R308W |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,891,478 (GRCm39) |
E2545V |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,537,167 (GRCm39) |
K165E |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,725,987 (GRCm39) |
D336E |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,345,242 (GRCm39) |
I83T |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,812,941 (GRCm39) |
D458G |
probably benign |
Het |
| Ncbp3 |
A |
G |
11: 72,968,768 (GRCm39) |
D513G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,788 (GRCm39) |
K5818N |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,053,934 (GRCm39) |
P120S |
probably damaging |
Het |
| Oit3 |
C |
A |
10: 59,274,464 (GRCm39) |
C112F |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,051 (GRCm39) |
T61S |
probably benign |
Het |
| Or4b1 |
C |
A |
2: 89,979,595 (GRCm39) |
A252S |
possibly damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,238 (GRCm39) |
V105M |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,960 (GRCm39) |
M176K |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,064,565 (GRCm39) |
R708Q |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,825 (GRCm39) |
L1026F |
probably benign |
Het |
| Poglut3 |
T |
C |
9: 53,303,236 (GRCm39) |
F232L |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,573 (GRCm39) |
I772N |
probably damaging |
Het |
| Purb |
A |
G |
11: 6,425,424 (GRCm39) |
F155L |
probably damaging |
Het |
| Rcor2 |
C |
T |
19: 7,248,794 (GRCm39) |
R256W |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,417,545 (GRCm39) |
L1189P |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,156,493 (GRCm39) |
E472G |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,286,386 (GRCm39) |
Y536H |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,672 (GRCm39) |
I331F |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,679 (GRCm39) |
S38P |
probably damaging |
Het |
| Sfrp4 |
G |
T |
13: 19,807,610 (GRCm39) |
R3L |
unknown |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,993 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,694,615 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,154,387 (GRCm39) |
K2020E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,601,740 (GRCm39) |
T247S |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,352,544 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trav7d-3 |
A |
T |
14: 52,982,054 (GRCm39) |
I32F |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 19,046,913 (GRCm39) |
N788D |
|
Het |
| Zfp521 |
G |
A |
18: 13,950,372 (GRCm39) |
T1194I |
probably damaging |
Het |
| Zmynd8 |
C |
A |
2: 165,649,569 (GRCm39) |
K841N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCAGCCACATCTGAGTC -3'
(R):5'- CAACCACAGTGGCATTGCATAC -3'
Sequencing Primer
(F):5'- CATCTGAGTCCTCACAGAAGGTTG -3'
(R):5'- TGCATACCCGCAAGAGCTGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation