Incidental Mutation 'R2911:Cep104'
| ID |
261240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep104
|
| Ensembl Gene |
ENSMUSG00000039523 |
| Gene Name |
centrosomal protein 104 |
| Synonyms |
BC046331 |
| MMRRC Submission |
040498-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R2911 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154059651-154093189 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 154079884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047497]
|
| AlphaFold |
Q80V31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047497
|
| SMART Domains |
Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
222 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
SCOP:d1gw5b_
|
523 |
646 |
3e-5 |
SMART |
|
coiled coil region
|
688 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183790
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
| Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
| Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
| Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
| Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
possibly damaging |
Het |
|
| Other mutations in Cep104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02755:Cep104
|
APN |
4 |
154,081,416 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02884:Cep104
|
APN |
4 |
154,074,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02928:Cep104
|
APN |
4 |
154,065,716 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03119:Cep104
|
APN |
4 |
154,066,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Cep104
|
UTSW |
4 |
154,067,510 (GRCm39) |
splice site |
probably benign |
|
|
R0505:Cep104
|
UTSW |
4 |
154,080,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Cep104
|
UTSW |
4 |
154,091,249 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1208:Cep104
|
UTSW |
4 |
154,069,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Cep104
|
UTSW |
4 |
154,069,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Cep104
|
UTSW |
4 |
154,072,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1338:Cep104
|
UTSW |
4 |
154,078,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1528:Cep104
|
UTSW |
4 |
154,078,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1648:Cep104
|
UTSW |
4 |
154,063,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1831:Cep104
|
UTSW |
4 |
154,087,003 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1832:Cep104
|
UTSW |
4 |
154,087,003 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1911:Cep104
|
UTSW |
4 |
154,091,255 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1914:Cep104
|
UTSW |
4 |
154,074,296 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2516:Cep104
|
UTSW |
4 |
154,073,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Cep104
|
UTSW |
4 |
154,079,884 (GRCm39) |
splice site |
probably null |
|
|
R3751:Cep104
|
UTSW |
4 |
154,066,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828:Cep104
|
UTSW |
4 |
154,069,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Cep104
|
UTSW |
4 |
154,069,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Cep104
|
UTSW |
4 |
154,069,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Cep104
|
UTSW |
4 |
154,073,693 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4731:Cep104
|
UTSW |
4 |
154,072,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cep104
|
UTSW |
4 |
154,072,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Cep104
|
UTSW |
4 |
154,072,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Cep104
|
UTSW |
4 |
154,090,699 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5449:Cep104
|
UTSW |
4 |
154,069,762 (GRCm39) |
splice site |
probably null |
|
|
R5567:Cep104
|
UTSW |
4 |
154,086,734 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5761:Cep104
|
UTSW |
4 |
154,065,681 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5980:Cep104
|
UTSW |
4 |
154,072,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7003:Cep104
|
UTSW |
4 |
154,078,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Cep104
|
UTSW |
4 |
154,077,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7376:Cep104
|
UTSW |
4 |
154,067,509 (GRCm39) |
splice site |
probably null |
|
|
R8278:Cep104
|
UTSW |
4 |
154,068,122 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8877:Cep104
|
UTSW |
4 |
154,077,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9035:Cep104
|
UTSW |
4 |
154,063,462 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9060:Cep104
|
UTSW |
4 |
154,074,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Cep104
|
UTSW |
4 |
154,078,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0026:Cep104
|
UTSW |
4 |
154,071,342 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACGTGCTGCTCTCTACATAAATG -3'
(R):5'- ACCAGGGCTGCTAAAGTGAC -3'
Sequencing Primer
(F):5'- AGCAAACATGTCTAAATATATCTGCC -3'
(R):5'- GGCTGCTAAAGTGACACTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation