Incidental Mutation 'R5980:Cep104'
| ID |
481369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep104
|
| Ensembl Gene |
ENSMUSG00000039523 |
| Gene Name |
centrosomal protein 104 |
| Synonyms |
BC046331 |
| MMRRC Submission |
044162-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R5980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154059651-154093189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 154072930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 396
(A396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047497]
|
| AlphaFold |
Q80V31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047497
AA Change: A396E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: A396E
| 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 |
noncoding transcript
Transcript: ENSMUST00000155414
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183790
AA Change: A2E
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
96% (50/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,544,018 (GRCm39) |
N508D |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,354,362 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
A |
T |
15: 76,935,219 (GRCm39) |
T163S |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,247,095 (GRCm39) |
T33A |
probably benign |
Het |
| Atg7 |
C |
A |
6: 114,657,197 (GRCm39) |
F132L |
possibly damaging |
Het |
| Cers4 |
T |
A |
8: 4,568,269 (GRCm39) |
C107* |
probably null |
Het |
| Cntn6 |
T |
C |
6: 104,825,093 (GRCm39) |
S878P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,158,705 (GRCm39) |
K633E |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,972 (GRCm39) |
I2592K |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,881,595 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,157,324 (GRCm39) |
C2320R |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,928,351 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
G |
8: 120,956,376 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,295 (GRCm39) |
H708Q |
probably benign |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,573 (GRCm39) |
S10P |
probably damaging |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,009 (GRCm39) |
V5A |
probably benign |
Het |
| Irgq |
G |
A |
7: 24,232,770 (GRCm39) |
G204S |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,234,463 (GRCm39) |
K681R |
possibly damaging |
Het |
| Kcnv1 |
C |
A |
15: 44,972,810 (GRCm39) |
V358L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,349 (GRCm39) |
S275T |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,219 (GRCm39) |
D155V |
probably damaging |
Het |
| Magel2 |
A |
T |
7: 62,030,344 (GRCm39) |
I1083F |
unknown |
Het |
| Mta3 |
T |
A |
17: 84,015,834 (GRCm39) |
V12D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,494,977 (GRCm39) |
I423T |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,616,887 (GRCm39) |
Y16H |
possibly damaging |
Het |
| Mycbp |
G |
A |
4: 123,804,889 (GRCm39) |
V91I |
probably benign |
Het |
| Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
| Nol4 |
T |
A |
18: 23,085,258 (GRCm39) |
Q52L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,416 (GRCm39) |
V808A |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,309 (GRCm39) |
H176R |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,509 (GRCm39) |
F238Y |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,141 (GRCm39) |
L207* |
probably null |
Het |
| Pate10 |
A |
C |
9: 35,652,911 (GRCm39) |
D51A |
probably damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,016,046 (GRCm39) |
D869E |
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,167,546 (GRCm39) |
S606P |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,613,770 (GRCm39) |
R517* |
probably null |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,401 (GRCm39) |
|
probably null |
Het |
| Saraf |
T |
A |
8: 34,632,541 (GRCm39) |
F207I |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,628 (GRCm39) |
D874G |
probably damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,190,411 (GRCm39) |
L14M |
unknown |
Het |
| Sidt1 |
A |
T |
16: 44,083,675 (GRCm39) |
C485* |
probably null |
Het |
| Sptbn4 |
A |
G |
7: 27,071,596 (GRCm39) |
Y1618H |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,662,716 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,310,703 (GRCm39) |
A206T |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,662 (GRCm39) |
I820F |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,520 (GRCm39) |
Y433H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,328,038 (GRCm39) |
V305A |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,480 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,626 (GRCm39) |
H291Q |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,624 (GRCm39) |
I457V |
probably benign |
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 |
|
|
R2911: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 |
|
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'- CCTCACACTAGTCTGAGAGGAAATG -3'
(R):5'- CACATGTGCATGCCATTGTG -3'
Sequencing Primer
(F):5'- AGGAAATGGATGACCTTTCTCCTGC -3'
(R):5'- CATGCCATTGTGATTGTGTGCATAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation